ORIGINAL_ARTICLE
Activated PI3K-Delta Syndrome: Pathogenesis, Clinical Manifestations, Diagnosis, Classification, and Management
Activated PI3 kinase delta syndrome (APDS) is a newly recognized primary immunodeficiency that was firstly discovered in 2013. APDS can result from gain-of-function mutations in PI3Kδ catalytic p110δ (PIK3CD known as APDS1) and regulatory p85α (PIK3R1 known as APDS2). Patients with APDS syndrome mostly present some major manifestations such as lymphadenopathy and autoimmune diseases like cytopenia and Immune thrombocytopenic purpura (ITP). Distinguishing APDS from the other antibody deficiencies such as the common variable immunodeficiency (CVID) and hyper IgM disorders is very important to use appropriate and targeted treatment strategies. In this review article, we attempted to discuss the pathogenesis, cell abnormality, clinical manifestations, diagnosis, and treatment of APDS disorder.
http://www.igjournal.ir/article_114661_160211755b24734746467275cdc10f29.pdf
2020-09-01
8
15
10.22034/igj.2020.247410.1049
Activated phosphoinositide 3- kinase d syndrome (APDS)
Phosphoinositide-3-kinase δ
Primary immunodeficiency
Gain of function
nazanin
Aghamohamadi
nazaninaghamohamadi@gmail.com
1
Department of Immunology, Faculty of Medicine, Iran University of Medical Sciences, Tehran, Iran
AUTHOR
Ali
Zarezadeh mehrabadi
ali.zare1994@gmail.com
2
Department of Immunology, Faculty of Medicine, Iran University of Medical Sciences, Tehran, Iran
LEAD_AUTHOR
1. Lucas CL, Chandra A, Nejentsev S, Condliffe AM, Okkenhaug K. PI3Kδ and primary immunodeficiencies Nat Rev Immunol. 2016;16(11):702-14. 2. Zhang Q, Ma H, Ma J, Wang D, Zhao Y, Wang T, et al. Clinical and genetic analysis of immunodeficiency‐related diseases associated with PIK3CD mutations. Pediatr Investig. 2018;2(4):257-62. 3. Michalovich D, Nejentsev S. Activated PI3 kinase delta syndrome: from genetics to therapy. Front Immunol. 2018;9:369. 4. Jamee M, Moniri S, Zaki-Dizaji M, Olbrich P, Yazdani R, Jadidi-Niaragh F, et al. Clinical, Immunological, and Genetic Features in Patients with Activated PI3Kδ Syndrome (APDS): a Systematic Review. Clin Rev Allergy Immunol. 2019;10.1007/s12016-019-08738-9. doi:10.1007/s12016-019-08738-9 5. Singh A, Joshi V, Jindal AK, Mathew B, Rawat A. An updated review on activated PI3 kinase delta syndrome (APDS). Genes Dis. 2020;7(1):67-74. 6. Nunes-Santos CJ, Uzel G, Rosenzweig SD. PI3K pathway defects leading to immunodeficiency and immune dysregulation. J Allergy Clin Immunol. 2019;143(5):1676-87. 7. Lucas CL, Zhang Y, Venida A, Wang Y, Hughes J, McElwee J, et al. Heterozygous splice mutation in PIK3R1 causes human immunodeficiency with lymphoproliferation due to dominant activation of PI3K. J Exp Med.2014;211(13):2537-47. 8. Dornan GL, Siempelkamp BD, Jenkins ML, Vadas O, Lucas CL, Burke JE. Conformational disruption of PI3Kδ regulation by immunodeficiency mutations in PIK3CD and PIK3R1. Proc Natl Acad Sci U S A 2017;114(8):1982-7. 9. Petrovski S, Parrott RE, Roberts JL, Huang H, Yang J, Gorentla B, et al. Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature J Clin Immunol. 2016;36(5):462-71. 10. Elkaim E, Neven B, Bruneau J, Mitsui-Sekinaka K, Stanislas A, Heurtier L, et al. Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study. J Allergy Clin Immunol. 2016;138(1):210-8.e9. 11. Condliffe AM, Chandra A. Respiratory Manifestations of the Activated Phosphoinositide 3-Kinase Delta Syndrome. Front Immunol. 2018;9:338. 12. Coulter TI, Chandra A, Bacon CM, Babar J, Curtis J, Screaton N, et al. Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study. J Allergy Clin Immunol. 2017;139(2):597-606.e4. 13. Crank MC, Grossman JK, Moir S, Pittaluga S, Buckner CM, Kardava L, et al. Mutations in PIK3CD can cause hyper IgM syndrome (HIGM) associated with increased cancer susceptibility. J Clin Immunol. 2014;34(3):272-6. 14. Angulo I, Vadas O, Garçon F, Banham-Hall E, Plagnol V, Leahy TR, et al. Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage. Science (New York, NY). 2013;342(6160):866-71. 15. Ewertowska M, Grześk E, Urbańczyk A, Dąbrowska A, Bąbol-Pokora K, Łęcka M, et al. Activated phosphoinositide 3-kinase delta syndrome 1 and 2 (APDS 1 and APDS 2): similarities and differences based on clinical presentation in two boys. Allergy Asthma Clin Immunol. 2020;16:22. 16. Lougaris V, Baronio M, Moratto D, Tampella G, Gazzurelli L, Facchetti M, et al. A novel monoallelic gain of function mutation in p110δ causing atypical activated phosphoinositide 3-kinase δ syndrome (APDS-1). Clin Immunol. 2019;200:31-4. 17. Lucas CL, Kuehn HS, Zhao F, Niemela JE, Deenick EK, Palendira U, et al. Dominant-activating germline mutations in the gene encoding the PI(3)K catalytic subunit p110δ result in T cell senescence and human immunodeficiency. Nat Immunol. 2014;15(1):88-97. 18. Okkenhaug K, Vanhaesebroeck B. PI3K in lymphocyte development, differentiation and activation. Nat Rev Immunol. 2003;3(4):317-30. 19. Preite S, Gomez-Rodriguez J, Cannons JL, Schwartzberg PL. T and B-cell signaling in activated PI3K delta syndrome: From immunodeficiency to autoimmunity. Immunol Rev. 2019;291(1):154-73. 20. Stokes CA, Condliffe AM. Phosphoinositide 3-kinase δ (PI3Kδ) in respiratory disease. Biochem Soc Trans. 2018;46(2):361-9. 21. Magis-Escurra C, Reijers MH. Bronchiectasis. BMJ clinical evidence. BMJ Clin Evid. 2015;2015. 22. Maccari ME, Abolhassani H, Aghamohammadi A, Aiuti A, Aleinikova O, Bangs C, et al. Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry. Front Immunol. 2018;9:543. 23. Jamee M, Moniri S, Zaki-Dizaji M, Olbrich P, Yazdani R, Jadidi-Niaragh F, et al. Clinical, immunological, and genetic features in patients with activated PI3Kδ syndrome (APDS): a systematic review. Clin Rev Allergy Immunol. 2019:1-11. 24. Martínez-Saavedra MT, García-Gomez S, Domínguez Acosta A, Mendoza Quintana JJ, Páez JP, García-Reino EJ, et al. Gain-of-function mutation in PIK3R1 in a patient with anarrow clinical phenotype of respiratory infections. Clin Immunol. 2016;173:117-120. 25. Asano T, Okada S, Tsumura M, Yeh TW, Mitsui-Sekinaka K, Tsujita Y, et al. Enhanced AKT Phosphorylation of Circulating B Cells in Patients With Activated PI3Kδ Syndrome. Front Immunol. 2018;9:568. 26. Lucas CL, Chandra A, Nejentsev S, Condliffe AM, Okkenhaug K. PI3Kδ and primary immunodeficiencies. Nat Rev Immunol. 2016;16(11):702-14. 27. Swan DJ, Aschenbrenner D, Lamb CA, Chakraborty K, Clark J, Pandey S, et al. Immunodeficiency, autoimmune thrombocytopenia and enterocolitis caused by autosomal recessive deficiency of PIK3CD-encoded phosphoinositide 3-kinase δ. Haematologica. 2019;104(10):e483-e6. 28. Preite S, Cannons JL, Radtke AJ, Vujkovic-Cvijin I, Gomez-Rodriguez J, Volpi S. Hyperactivated PI3Kδ promotes self and commensal reactivity at the expense of optimal humoral immunity Nat Immunol. 2018;19(9):986-1000. 29. Elgizouli M, Lowe DM, Speckmann C, Schubert D, Hülsdünker J, Eskandarian Z, et al. Activating PI3Kδ mutations in a cohort of 669 patients with primary immunodeficiency. Clin Exp Immunol. 2016;183(2):221-9. 30. Cohen JI. Herpesviruses in the Activated Phosphatidylinositol-3-Kinase-δ Syndrome. Front Immunol. 2018;9:237. 31. Seidel MG. Autoimmune and other cytopenias in primary immunodeficiencies: pathomechanisms, novel differential diagnoses, and treatment. Blood. 2014;124(15):2337-44. 32. Lucas M, Hugh-Jones K, Welby A, Misbah S, Spaeth P, Chapel H. Immunomodulatory therapy to achieve maximum efficacy: doses, monitoring, compliance, and self-infusion at home. J Clin Immunol. 2010;30 Suppl 1:S84-9. 33. Edgar JDM, Richter AG, Huissoon AP, Kumararatne DS, Baxendale HE, Bethune CA, et al. Prescribing Immunoglobulin Replacement Therapy for Patients with Non-classical and Secondary Antibody Deficiency: an Analysis of the Practice of Clinical Immunologists in the UK and Republic of Ireland. J Clin Immunol. 2018;38(2):204-13. 34. Berger M, Jolles S, Orange JS, Sleasman JW. Bioavailability of IgG administered by the subcutaneous route. J Clin Immunol. 2013;33(5):984-90. 35. Kracker S, Curtis J, Ibrahim MA, Sediva A, Salisbury J, Campr V, et al. Occurrence of B-cell lymphomas in patients with activated phosphoinositide 3-kinase δ syndrome. J Allergy Clin Immunol. 2014;134(1):233-6. 36. Kannan JA, Dávila-Saldaña BJ, Zhang K, Filipovich AH, Kucuk ZY. Activated phosphoinositide 3-kinase δ syndrome in a patient with a former diagnosis of common variable immune deficiency, bronchiectasis, and lymphoproliferative disease. Ann Allergy Asthma Immunol . 2015;115(5):452-4. 37. Nademi Z, Slatter MA, Dvorak CC, Neven B, Fischer A, Suarez F, et al. Hematopoietic stem cell transplant in patients with activated PI3K delta syndrome. J Allergy Clin Immunol. 2017;139(3):1046-9. 38. Okano T, Imai K, Tsujita Y, Mitsuiki N, Yoshida K, Kamae C, et al. Hematopoietic stem cell transplantation for progressive combined immunodeficiency and lymphoproliferation in patients with activated phosphatidylinositol-3-OH kinase δ syndrome type 1. J Allergy Clin Immunol. 2019;143(1):266-75. 39. Quinti I, Soresina A, Spadaro G, Martino S, Donnanno S, Agostini C, et al. Long-term follow-up and outcome of a large cohort of patients with common variable immunodeficiency. J Clin Immunol. 2007;27(3):308-16. 40. Jung S, Gámez-Díaz L, Proietti M, Grimbacher B. “Immune TOR-opathies,” a Novel Disease Entity in Clinical Immunology. Front Immunol. 2018;9:966.
1
ORIGINAL_ARTICLE
Chronic granulomatous disease (CGD): Epidemiology, Pathogenesis, Clinical Phenotype, Diagnosis, Prognosis and Management
Chronic granulomatous disease (CGD) is a relatively rare inborn error of immune system caused by defects in the phagocyte nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex which leads to impaired production of reactive oxygen species (ROS) and ineffective phagocyte function. Genetic defects of any of proteinaceous components of NADPH oxidase complex results in CGD. The most common type of CGD (65-70%) is caused by X-linked mutations in the CYBB gene encoding gp91phox, followed by autosomal recessive mutations in the NCF1, NCF2, CYBA and NCF4 genes encoding p47phox, p67phox, p22phox, and p40phox, respectively. Dihydrorhodamine (DHR) 123 oxidation and nitroblue tetrazolium (NBT) tests are both used for the diagnosis of CGD that should be confirmed by genetic testing. CGD patients generally present with recurrent infections caused by uncommon pathogens like aspergillus, staphylococcus aureus, burkholderia cepacia, serratia marcescens, Aspergillus species and nocardia. They manifest with deep seated abscess formation, genitourinary and gastrointestinal granuloma development, autoimmunity and malignancy. Apart from comprehensive treatment of acute infections, management of CGD is based on reducing bacterial and fungal infections in addition to minimizing the inflammatory symptoms. Antibiotics, anti-fungal and IFN-γ are used for prophylaxis. Allogeneic hematopoietic stem cell transplantation from a human leucocyte antigen identical donor is currently the only proven curative treatment for CGD. Gene therapy is considered an alternative, novel therapeutic approach in near future.
http://www.igjournal.ir/article_114662_692608756b068a581a26e1426915036f.pdf
2020-09-01
16
29
10.22034/igj.2020.242713.1045
Chronic Granulomatous Disease
Primary immunodeficiency
nitroblue tetrazolium
Farimah
Fayyaz
farimah_fayaz75@yahoo.com
1
Student Research Committee, Alborz University of Medical Sciences, Karaj, Iran
AUTHOR
Kiavash
Khashayar
kiavash.khashayar@yahoo.com
2
Alborz University of Medical Sciences, Karaj, Iran.
AUTHOR
Matineh
Nirouei
matinehnirouei@gmail.com
3
Alborz University of Medical Sciences, Karaj, Iran
AUTHOR
Zahra
Tavakol
zahra.tavakol@yahoo.com
4
Department of Sports and Exercise Medicine, Imam Khomeini Complex Hospital, Tehran University of Medical Sciences, Tehran, Iran Sports Medicine Research Center, Neuroscience Institute, Tehran University of Medical Sciences, Tehran, Iran
AUTHOR
Forough
Askarimoghaddam
faskarimoghaddam@yahoo.com
5
Alborz University of Medical Sciences, Karaj, Iran
AUTHOR
Marzieh
Tavakol
marziyeh.tavakol@gmail.com
6
Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran
LEAD_AUTHOR
1. van den Berg JM, van Koppen E, Ahlin A, Belohradsky BH, Bernatowska E, Corbeel L, et al. Chronic granulomatous disease: the European experience. PLoS One. 2009;4(4):e5234. 2. Winkelstein JA, Marino MC, Johnston RB, Jr., Boyle J, Curnutte J, Gallin JI, et al. Chronic granulomatous disease. Report on a national registry of 368 patients. Medicine (Baltimore). 2000;79(3):155-69. 3. Arnadottir GA, Norddahl GL, Gudmundsdottir S, Agustsdottir AB, Sigurdsson S, Jensson BO, et al. A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease. Nat Commun. 2018;9(1):4447. 4. Roos D, Kuhns DB, Maddalena A, Roesler J, Lopez JA, Ariga T, et al. Hematologically important mutations: X-linked chronic granulomatous disease (third update). Blood Cells Mol Dis. 2010;45(3):246-65. 5. Kuhns DB, Alvord WG, Heller T, Feld JJ, Pike KM, Marciano BE, et al. Residual NADPH oxidase and survival in chronic granulomatous disease. N Engl J Med. 2010;363(27):2600-10. 6. Jones LB, McGrogan P, Flood TJ, Gennery AR, Morton L, Thrasher A, et al. Special article: chronic granulomatous disease in the United Kingdom and Ireland: a comprehensive national patient-based registry. Clin Exp Immunol. 2008;152(2):211-8. 7. Marciano BE, Spalding C, Fitzgerald A, Mann D, Brown T, Osgood S, et al. Common severe infections in chronic granulomatous disease. Clin Infect Dis. 2015;60(8):1176-83. 8. Rider NL, Jameson MB, Creech CB. Chronic Granulomatous Disease: Epidemiology, Pathophysiology, and Genetic Basis of Disease. J Pediatric Infect Dis Soc. 2018;7(suppl_1):S2-S5. 9. Arnold DE, Heimall JR. A Review of Chronic Granulomatous Disease. Adv Ther. 2017;34(12):2543-57. 10. Anjani G, Vignesh P, Joshi V, Shandilya JK, Bhattarai D, Sharma J, et al. Recent advances in chronic granulomatous disease. Genes Dis. 2020;7(1):84-92. 11. Rider N, Jameson M, Creech C. Chronic granulomatous disease: epidemiology, pathophysiology, and genetic basis of disease. J Pediatric Infect Dis Soc. 2018;7(suppl_1):S2-S5. 12. Leiding JW, Holland SM. Chronic granulomatous disease. Stiehm’s Immune Deficiencies: Elsevier; 2020. p. 829-47. 13. Reeves EP, Lu H, Jacobs HL, Messina CG,Bolsover S, Gabella G, et al. Killing activity of neutrophils is mediated through activation of proteases by K+ flux. Nature. 2002;416(6878):291-7. 14. Segal BH, Leto TL, Gallin JI, Malech HL, Holland SM. Genetic, biochemical, and clinical features of chronic granulomatous disease. Medicine (Baltimore). 2000;79(3):170-200. 15. Yu HH, Yang YH, Chiang BL. Chronic Granulomatous Disease: a Comprehensive Review. Clin Rev Allergy Immunol. 2020:1-13. 16. Hoffman R. Hematology : basic principles and practice. 6th ed. Philadelphia, PA: Saunders/Elsevier; 2013. xxxi, 2343 p. p. 17. Salvator H, Mahlaoui N, Catherinot E, Rivaud E, Pilmis B, Borie R, et al. Pulmonary manifestations in adult patients with chronic granulomatous disease. Eur Respir J. 2015;45(6):1613-23. 18. Falcone EL, Holland SM. Invasive fungal infection in chronic granulomatous disease: insights into pathogenesis and management. Curr Opin Infect Dis. 2012;25(6):658-69. 19. Beaute J, Obenga G, Le Mignot L, Mahlaoui N, Bougnoux ME, Mouy R, et al. Epidemiology and outcome of invasive fungal diseases in patients with chronic granulomatous disease: a multicenter study in France. Pediatr Infect Dis J. 2011;30(1):57-62. 20. Blumental S, Mouy R, Mahlaoui N, Bougnoux ME, Debre M, Beaute J, et al. Invasive mold infections in chronic granulomatous disease: a 25-year retrospective survey. Clin Infect Dis. 2011;53(12):e159-69. 21. Desjardins A, Coignard-Biehler H, Mahlaoui N, Frange P, Bougnoux ME, Blanche S, et al. [Chronic granulomatous disease: pathogenesis and therapy of associated fungal infections]. Med Sci (Paris). 2012;28(11):963-9. 22. Siddiqui S, Anderson VL, Hilligoss DM, Abinun M, Kuijpers TW, Masur H, et al. Fulminant mulch pneumonitis: an emergency presentation of chronic granulomatous disease. Clin Infect Dis. 2007;45(6):673-81. 23. Liese J, Kloos S, Jendrossek V, Petropoulou T, Wintergerst U, Notheis G, et al. Longterm follow-up and outcome of 39 patients with chronic granulomatous disease. J Pediatr. 2000;137(5):687-93. 24. Magnani A, Brosselin P, Beaute J, de Vergnes N, Mouy R, Debre M, et al. Inflammatory manifestations in a single-center cohort of patients with chronic granulomatous disease. J Allergy Clin Immunol. 2014;134(3):655-62 e8. 25. Spagnolo P, Rossi G, Cavazza A, Bonifazi M, Paladini I, Bonella F, et al. Hypersensitivity Pneumonitis: A Comprehensive Review. J Investig Allergol Clin Immunol. 2015;25(4):237- 50; quiz follow 50. 26. Buchvald F, Petersen BL, Damgaard K, Deterding R, Langston C, Fan LL, et al. Frequency, treatment, and functional outcome in children with hypersensitivity pneumonitis. Pediatr Pulmonol. 2011;46(11):1098-107. 27. Katsuya Y, Hojo M, Kawai S, Kawai T, Onodera M, Sugiyama H. Chronic granulomatous disease with pulmonary mass-like opacities secondary to hypersensitivity pneumonitis: a case report. J Med Case Rep. 2014;8:242. 28. Segerer F, Morbach H, Hassold N, Kleinert S, Tony HP, Roesler J, et al. A 58-year-old man with respiratory insufficiency after a 50-year history of hypersensitivity pneumonitis and pulmonary Aspergillus infections. J Allergy Clin Immunol Pract. 2013;1(6):677-80. 29. Esenboga S, Emiralioglu N, Cagdas D, Erman B, De Boer M, Oguz B, et al. Diagnosis of Interstitial Lung Disease Caused by Possible Hypersensitivity Pneumonitis in a Child: Think CGD. J Clin Immunol. 2017;37(3):269-72. 30. Liu H, Liu J, Li H, Peng Y, Zhao S. Mimicking hypersensitivity pneumonitis as an uncommon initial presentation of chronic granulomatous disease in children. Orphanet J Rare Dis. 2017;12(1):169. 31. Liu H, Yang H, Li H, Liu J, Zhao S. Hyper-sensitive Pneumonitis: an Initial Presentation of Chronic Granulomatous Disease in a Child. J Clin Immunol. 2018;38(2):155-8. 32. Kawai T, Watanabe N, Yokoyama M, Nakazawa Y, Goto F, Uchiyama T, et al. Interstitial lung disease with multiple microgranulomas in chronic granulomatous disease. J Clin Immunol. 2014;34(8):933-40. 33. Ameratunga R, Woon ST, Vyas J, Roberts S. Fulminant mulch pneumonitis in undiagnosed chronic granulomatous disease: a medical emergency. Clin Pediatr (Phila). 2010;49(12):1143-6. 34. van de Veerdonk FL, Smeekens SP, Joosten LA, Kullberg BJ, Dinarello CA, van der Meer JW, et al. Reactive oxygen species-independent activation of the IL-1beta inflammasome in cells from patients with chronic granulomatous disease. Proc Natl Acad Sci U S A. 2010;107(7):3030-3. 35. Bains SN, Judson MA. Allergic bronchopulmonary aspergillosis. Clin Chest Med. 2012;33(2):265-81. 36. Agarwal R. Allergic bronchopulmonary aspergillosis. Chest. 2009;135(3):805-26. 37. Chakrabarti A, Sethi S, Raman DS, Behera D. Eight-year study of allergic bronchopulmonary aspergillosis in an Indian teaching hospital. Mycoses. 2002;45(8):295-9. 38. Patterson TF, Thompson GR, 3rd, Denning DW, Fishman JA, Hadley S, Herbrecht R, et al. Practice Guidelines for the Diagnosis and Management of Aspergillosis: 2016 Update by the Infectious Diseases Society of America. Clin Infect Dis. 2016;63(4):e1-e60. 39. Malbora B, Aksoylar S, Ozdemir HH, Ozdemir S, Kansoy S. A Case of Allergic Broncopulmonary Aspergillosis Associated With Hematopoietic Stem Cell Transplantation Due to Chronic Granulomatous Disease. J Pediatr Hematol Oncol. 2019;41(3):e161-e3. 40. Lugo Reyes SO, Ramirez-Vazquez G, Cruz Hernandez A, Medina-Torres EA, Ramirez-Lopez AB, Espana-Cabrera C, et al. Clinical Features, Non-Infectious Manifestations and Survival Analysis of 161 Children with Primary Immunodeficiency in Mexico: A Single Center Experience Over two Decades. J Clin Immunol. 2016;36(1):56-65. 41. Cale CM, Morton L, Goldblatt D. Cutaneous and other lupus-like symptoms in carriers of X-linked chronic granulomatous disease: incidence and autoimmune serology. Clin Exp Immunol. 2007;148(1):79-84. 42. Battersby AC, Braggins H, Pearce MS, Cale CM, Burns SO, Hackett S, et al. Inflammatory and autoimmune manifestations in X-linked carriers of chronic granulomatous disease in the United Kingdom. J Allergy Clin Immunol. 2017;140(2):628-30 e6. 43. Thompson EN, Soothill JF. Chronic granulomatous disease: quantitative clinicopathological relationships. Arch Dis Child. 1970;45(239):24-32. 44. Brown JR, Goldblatt D, Buddle J, Morton L, Thrasher AJ. Diminished production of anti-inflammatory mediators during neutrophil apoptosis and macrophage phagocytosis in chronic granulomatous disease (CGD). J Leukoc Biol. 2003;73(5):591-9. 45. Sanford AN, Suriano AR, Herche D, Dietzmann K, Sullivan KE. Abnormal apoptosis in chronic granulomatous disease and autoantibody production characteristic of lupus. Rheumatology (Oxford). 2006;45(2):178-81. 46. Carneiro-Sampaio M, Liphaus BL, Jesus AA, Silva CA, Oliveira JB, Kiss MH. Understanding systemic lupus erythematosus physiopathology in the light of primary immunodeficiencies. J Clin Immunol. 2008;28 Suppl 1:S34-41. 47. Foster CB, Lehrnbecher T, Mol F, Steinberg SM, Venzon DJ, Walsh TJ, et al. Host defense molecule polymorphisms influence the risk for immune-mediated complications in chronic granulomatous disease. J Clin Invest.1998;102(12):2146-55. 48. Manzi S, Urbach AH, McCune AB, Altman HA, Kaplan SS, Medsger TA, Jr., et al. Systemic lupus erythematosus in a boy with chronic granulomatous disease: case report and review of the literature. Arthritis Rheum. 1991;34(1):101-5. 49. Stalder JF, Dreno B, Bureau B, Hakim J. Discoid lupus erythematosus-like lesions in an autosomal form of chronic granulomatous disease. Br J Dermatol. 1986;114(2):251-4. 50. Badolato R, Notarangelo LD, Plebani A, Roos D. Development of systemic lupus erythematosus in a young child affected with chronic granulomatous disease following withdrawal of treatment with interferon-gamma. Rheumatology (Oxford). 2003;42(6):804-5. 51. Gallin JI, Buescher ES, Seligmann BE, Nath J, Gaither T, Katz P. NIH conference. Recent advances in chronic granulomatous disease. Ann Intern Med. 1983;99(5):657-74. 52. Matsuura R, Kagosaki Y, Tanaka Y, Kashiwa H, Sakano T, Kobayashi Y, et al. A female case of chronic granulomatous disease (CGD) associated with chronic idiopathic thrombocytopenic purpura. Hiroshima J Med Sci. 1980;29(2):83-6. 53. Frifelt JJ, Schonheyder H, Valerius NH, Strate M, Starklint H. Chronic granulomatous disease associated with chronic glomerulonephritis. Acta Paediatr Scand. 1985;74(1):152-7. 54. van Rhenen DJ, Koolen MI, Feltkamp-Vroom TM, Weening RS. Immune complex glomerulonephritis in chronic granulomatous disease. Case report of an eighteen-year-old girl. Acta Med Scand. 1979;206(3):233-7. 55. De Ravin SS, Naumann N, Cowen EW, Friend J, Hilligoss D, Marquesen M, et al. Chronic granulomatous disease as a risk factor for autoimmune disease. J Allergy Clin Immunol. 2008;122(6):1097-103. 56. Macedo F, McHugh K, Goldblatt D. Pericardial effusions in two boys with chronic granulomatous disease. Pediatr Radiol. 1999;29(11):820-2. 57. Lee BW, Yap HK. Polyarthritis resembling juvenile rheumatoid arthritis in a girl with chronic granulomatous disease. Arthritis Rheum. 1994;37(5):773-6. 58. Schmitt CP, Scharer K, Waldherr R, Seger RA, Debatin KM. Glomerulonephritis associated with chronic granulomatous disease and systemic lupus erythematosus. Nephrol Dial Transplant. 1995;10(6):891-5. 59. Narsipur SS, Shanley PF. IgA nephropathy in a patient with chronic granulomatous disease. J Nephrol. 2002;15(6):713-5. 60. De Ravin SS, Naumann N, Robinson MR, Barron KS, Kleiner DE, Ulrick J, et al. Sarcoidosis in chronic granulomatous disease. Pediatrics. 2006;117(3):e590-5. 61. Marciano BE, Rosenzweig SD, Kleiner DE, Anderson VL, Darnell DN, Anaya-O’Brien S, et al. Gastrointestinal involvement in chronic granulomatous disease. Pediatrics. 2004;114(2):462-8. 62. Kang EM, Marciano BE, DeRavin S, Zarember KA, Holland SM, Malech HL. Chronic granulomatous disease: overview and hematopoietic stem cell transplantation. J Allergy Clin Immunol. 2011;127(6):1319-26; quiz 27-8. 63. Rosenzweig SD. Inflammatory manifestations in chronic granulomatous disease (CGD). J Clin Immunol. 2008;28 Suppl 1:S67-72. 64. van de Geer A, Cuadrado E, Slot MC, van Bruggen R, Amsen D, Kuijpers TW. Regulatory T cell features in chronic granulomatous disease. Clin Exp Immunol. 2019;197(2):222-9. 65. Kobayashi SD, Voyich JM, Braughton KR, Whitney AR, Nauseef WM, Malech HL, et al. Gene expression profiling provides insight into the pathophysiology of chronic granulomatous disease. J Immunol. 2004;172(1):636-43. 66. Damen GM, van Krieken JH, Hoppenreijs E, van Os E, Tolboom JJ, Warris A, et al. Overlap, common features, and essential differences in pediatric granulomatous inflammatorybowel disease. J Pediatr Gastroenterol Nutr. 2010;51(6):690-7. 67. Khangura SK, Kamal N, Ho N, Quezado M, Zhao X, Marciano B, et al. Gastrointestinal Features of Chronic Granulomatous Disease Found During Endoscopy. Clin Gastroenterol Hepatol. 2016;14(3):395-402 e5. 68. Markowitz JF, Aronow E, Rausen AR, Aiges H, Silverberg M, Daum F. Progressive esophageal dysfunction in chronic granulomatous disease. J Pediatr Gastroenterol Nutr. 1982;1(1):145-9. 69. Golioto M, O’Connor JB. Esophageal dysmotility in an adult with chronic granulomatous disease. J Clin Gastroenterol. 2001;33(4):330-2. 70. Ruiz-Contreras J, Bastero R, Serrano C, Benavent MI, Martinez A. Oesophageal narrowing in chronic granulomatous disease. Eur J Radiol. 1998;27(2):149-52. 71. Alimchandani M, Lai JP, Aung PP, Khangura S, Kamal N, Gallin JI, et al. Gastrointestinal histopathology in chronic granulomatous disease: a study of 87 patients. Am J Surg Pathol. 2013;37(9):1365-72. 72. Falcone EL, Holland SM. Gastrointestinal Complications in Chronic Granulomatous Disease. Methods Mol Biol. 2019;1982:573-86. 73. Liu S, Russo PA, Baldassano RN, Sullivan KE. CD68 expression is markedly different in Crohn’s disease and the colitis associated with chronic granulomatous disease. Inflamm Bowel Dis. 2009;15(8):1213-7. 74. Rosh JR, Tang HB, Mayer L, Groisman G, Abraham SK, Prince A. Treatment of intractable gastrointestinal manifestations of chronic granulomatous disease with cyclosporine. J Pediatr. 1995;126(1):143-5. 75. Noel N, Mahlaoui N, Blanche S, Suarez F, Coignard-Biehler H, Durieu I, et al. Efficacy and safety of thalidomide in patients with inflammatory manifestations of chronic granulomatous disease: a retrospective case series. J Allergy Clin Immunol. 2013;132(4):997-1000 e1-4. 76. Marks DJ, Miyagi K, Rahman FZ, Novelli M, Bloom SL, Segal AW. Inflammatory bowel disease in CGD reproduces the clinicopathological features of Crohn’s disease. Am J Gastroenterol. 2009;104(1):117-24. 77. Uzel G, Orange JS, Poliak N, Marciano BE, Heller T, Holland SM. Complications of tumor necrosis factor-alpha blockade in chronic granulomatous disease-related colitis. Clin Infect Dis. 2010;51(12):1429-34. 78. Gungor T, Teira P, Slatter M, Stussi G, Stepensky P, Moshous D, et al. Reduced-intensity conditioning and HLA-matched haemopoietic stem-cell transplantation in patients with chronic granulomatous disease: a prospective multicentre study. Lancet. 2014;383(9915):436-48. 79. Straughan DM, McLoughlin KC, Mullinax JE, Marciano BE, Freeman AF, Anderson VL, et al. The Changing Paradigm of Management of Liver Abscesses in Chronic Granulomatous Disease. Clin Infect Dis. 2018;66(9):1427-34. 80. Feld JJ, Hussain N, Wright EC, Kleiner DE, Hoofnagle JH, Ahlawat S, et al. Hepatic involvement and portal hypertension predict mortality in chronic granulomatous disease. Gastroenterology. 2008;134(7):1917-26. 81. Cunningham-Rundles C, Cooper DL, Duffy TP, Strauchen J. Lymphomas of mucosal-associated lymphoid tissue in common variable immunodeficiency. Am J Hematol. 2002;69(3):171-8. 82. Mueller N. Overview of the epidemiology of malignancy in immune deficiency. J Acquir Immune Defic Syndr. 1999;21 Suppl 1:S5-10. 83. Weel EA, Redekop WK, Weening RS. Increased risk of malignancy for patients with chronic granulomatous disease and its possible link to the pathogenesis of cancer. Eur J Cancer. 1996;32A(4):734-5. 84. Lugo Reyes SO, Suarez F, Herbigneaux RM, Pacquement H, Reguerre Y, Riviere JP, et al. Hodgkin lymphoma in 2 children with chronic granulomatous disease. J Allergy Clin Immu-nol. 2011;127(2):543-4 e1-3. 85. Geramizadeh B, Alborzi A, Hosseini M, Ramzi M, Foroutan H. Primary splenic Hodgkin’s disease in a patient with chronic granulomatous disease, a case report. Iranian Red Crescent Medical Journal2010. p. 319-21. 86. Wolach B, Ash S, Gavrieli R, Stark B, Yaniv I, Roos D. Acute lymphoblastic leukemia in a patient with chronic granulomatous disease and a novel mutation in CYBB: first report. Am J Hematol. 2005;80(1):50-4. 87. Aguilera DG, Tomita T, Rajaram V, Fangusaro J, Katz BZ, Shulman S, et al. Glioblastoma multiforme in a patient with chronic granulomatous disease treated with subtotal resection, radiation, and thalidomide: case report of a long-term survivor. J Pediatr Hematol Oncol. 2009;31(12):965-9. 88. Yu JE, Azar AE, Chong HJ, Jongco AM, 3rd, Prince BT. Considerations in the Diagnosis of Chronic Granulomatous Disease. J Pediatric Infect Dis Soc. 2018;7(suppl_1):S6-S11. 89. Yu JE, Azar AE, Chong HJ, Jongco III AM, Prince BT. Considerations in the diagnosis of chronic granulomatous disease. J Pediatric Infect Dis Soc. 2018;7(suppl_1):S6-S11. 90. Holland SM. Chronic granulomatous disease. Clin Rev Allergy Immunol. 2010;38(1):3-10. 91. Margolis DM, Melnick DA, Alling DW, Gallin JI. Trimethoprim-sulfamethoxazole prophylaxis in the management of chronic granulomatous disease. J Infect Dis. 1990;162(3):723-6. 92. Gallin JI, Alling DW, Malech HL, Wesley R, Koziol D, Marciano B, et al. Itraconazole to prevent fungal infections in chronic granulomatous disease. N Engl J Med. 2003;348(24):2416-22. 93. Kang EM, Malech HL. Advances in treatment for chronic granulomatous disease. Immunol Res. 2009;43(1-3):77-84. 94. Seger RA. Modern management of chronic granulomatous disease. Br J Haematol. 2008;140(3):255-66. 95. Soncini E, Slatter MA, Jones LB, Hughes S, Hodges S, Flood TJ, et al. Unrelated donor and HLA-identical sibling haematopoietic stem cell transplantation cure chronic granulomatous disease with good long-term outcome and growth. Br J Haematol. 2009;145(1):73-83. 96. Malech HL, Maples PB, Whiting-Theobald N, Linton GF, Sekhsaria S, Vowells SJ, et al. Prolonged production of NADPH oxidase-corrected granulocytes after gene therapy of chronic granulomatous disease. Proc Natl Acad Sci U S A. 1997;94(22):12133-8. 97. Ott MG, Schmidt M, Schwarzwaelder K, Stein S, Siler U, Koehl U, et al. Correction of X-linked chronic granulomatous disease by gene therapy, augmented by insertional activation of MDS1-EVI1, PRDM16 or SETBP1. Nat Med. 2006;12(4):401-9. 98. Kang EM, Choi U, Theobald N, Linton G, Long Priel DA, Kuhns D, et al. Retrovirus gene therapy for X-linked chronic granulomatous disease can achieve stable long-term correction of oxidase activity in peripheral blood neutrophils. Blood. 2010;115(4):783-91.
1
ORIGINAL_ARTICLE
Bronchiectasis in Patients with the Common Variable Immunodeficiency (CVID)
Background/objectives: the common variable immunodeficiency (CVID) is known as the most prevalent symptomatic primary immune deficiency (PID) diseases, which is characterized by lower antibody serum levels as well as several infectious and noninfectious manifestations. In this regard, Bronchiectasis is considered as a common respiratory complication and a vital challenge in CVID cases. This study aimed to evaluate the prevalence of bronchiectasis and investigate its association with other manifestations in CVID patients. Methods: A total of 297 patients diagnosed with CVID according to the relevant criteria were included in the current study. The query was performed to collect the participants’ demographic data, clinical manifestations, and laboratory findings. The analysis was performed between the two groups of the study including CVID patients with bronchiectasis and those without it. Results: Overall, the prevalence rate of bronchiectasis was calculated to be 28.3%. Also, CVID patients with bronchiectasis had a significant higher prevalence rates of respiratory manifestations, recurrent infections, otitis, clubbing, lymphoproliferative diseases, urinary tract infections, gastrointestinal diseases, dermatologic infections, allergy, and autoimmunity compared to the group including the patients without bronchiectasis. Notably, no significant differences were observed in antibodies serum levels between the patients with and without bronchiectasis. Moreover, CD19+ lymphocytes and CD8+ lymphocytes had significantly lower and higher percentages in CVID patients with bronchiectasis compared to those without it, respectively. Conclusions: The higher prevalence of bronchiectasis in CVID patients might be correlated with some other severe respiratory and off-respiratory clinical complications. Therefore, these manifestations should be precisely managed to impede a serious condition of bronchiectasis in CVID patients.
http://www.igjournal.ir/article_114663_8eb69c65fb71be7e792028edd47324fd.pdf
2020-09-01
30
38
10.22034/igj.2020.247491.1050
Common variable immunodeficiency
bronchiectasis
clinical manifestations
Mohammad Javad
Sanaei
javadsanaei137@gmail.com
1
Cellular and Molecular Research Center, Basic Health Sciences Institute, Shahrekord University of Medical Sciences, Shahrekord, Iran
LEAD_AUTHOR
1. Knight AK, Cunningham-Rundles C. Inflammatory and autoimmune complications of common variable immune deficiency. Autoimmun Rev. 2006;5(2):156-9. 2. Smith T, Cunningham-Rundles C. Primary B-cell immunodeficiencies. Hum Immunol. 2019;80(6):351-62. 3. Ahn S, Cunningham-Rundles C. Role of B cells in common variable immune deficiency. Expert Rev Clin Immunol. 2009;5(5):557-64. 4. Yazdani R, Habibi S, Sharifi L, Azizi G, Abolhassani H, Olbrich P, et al. Common Variable Immunodeficiency: Epidemiology, Pathogenesis, Clinical Manifestations, Diagnosis, Classification, and Management. J Investig Allergol Clin Immunol. 2020;30(1):14-34. 5. Yazdani R, Abolhassani H, Asgardoon MH, Shaghaghi M, Modaresi M, Azizi G, et al. Infectious and Noninfectious Pulmonary Complications in Patients With Primary Immunodeficiency Disorders. J Investig Allergol Clin Immunol. 2017;27(4):213-24. 6. Maglione PJ, Overbey JR, Radigan L, Bagiella E, Cunningham-Rundles C. Pulmonary radiologic findings in common variable immunodeficiency: clinical and immunological correlations. Ann Allergy Asthma Immunol. 2014;113(4):452-9. 7. Brent J, Guzman D, Bangs C, Grimbacher B, Fayolle C, Huissoon A, et al. Clinical and laboratory correlates of lung disease and cancer in adults with idiopathic hypogammaglobulinaemia. Clin Exp Immunol. 2016;184(1):73-82. 8. Cinetto F, Scarpa R, Rattazzi M, Agostini C. The broad spectrum of lung diseases in primary antibody deficiencies. Eur Respir Rev. 2018;27(149). 9. Hurst JR, Elborn JS, De Soyza A. COPD-bronchiectasis overlap syndrome. Eur Respir J. 2015;45(2):310-3. 10. Mooney D, Edgar D, Einarsson G, Downey D, Elborn S, Tunney M. Chronic lung disease in common variable immune deficiency (CVID): A pathophysiological role for microbial and non-B cell immune factors. Crit Rev Microbiol. 2017;43(4):508-19. 11. Cole PJ. Inflammation: a two-edged sword-- the model of bronchiectasis. Eur J Respir Dis Suppl. 1986;147:6-15. 12. Quinti I, Soresina A, Guerra A, Rondelli R, Spadaro G, Agostini C, et al. Effectiveness of immunoglobulin replacement therapy on clinical outcome in patients with primary antibody deficiencies: results from a multicenter prospective cohort study. J Clin Immunol. 2011;31(3):315-22. 13. Ramzi N, Jamee M, Bakhtiyari M, Rafiemanesh H, Zainaldain H, Tavakol M, et al. Bronchiectasis in common variable immunodeficiency: A systematic review and meta-analysis. Pediatr Pulmonol. 2020;55(2):292-9. 14. Moazzami B, Mohayeji Nasrabadi MA,Abolhassani H, Olbrich P, Azizi G, Shirzadi R, et al. Comprehensive assessment of respiratory complications in patients with common variable immunodeficiency. Ann Allergy Asthma Immunol. 2020;124(5):505-11.e3. 15. Resnick ES, Moshier EL, Godbold JH, Cunningham-Rundles C. Morbidity and mortality in common variable immune deficiency over 4 decades. Blood. 2012;119(7):1650-7. 16. Chapel H, Lucas M, Lee M, Bjorkander J, Webster D, Grimbacher B, et al. Common variable immunodeficiency disorders: division into distinct clinical phenotypes. Blood. 2008;112(2):277-86. 17. Quinti I, Soresina A, Spadaro G, Martino S, Donnanno S, Agostini C, et al. Long-term follow-up and outcome of a large cohort of patients with common variable immunodeficiency. J Clin Immunol. 2007;27(3):308-16. 18. Pereira AC, Kokron CM, Romagnolo BM, Yagi CS, Saldiva PH, Lorenzi Filho G, et al. Analysis of the sputum and inflammatory alterations of the airways in patients with common variable immunodeficiency and bronchiectasis. Clinics (Sao Paulo). 2009;64(12):1155-60. 19. Azizi G, Bagheri Y, Tavakol M, Askarimoghaddam F, Porrostami K, Rafiemanesh H, et al. The Clinical and Immunological Features of Patients with Primary Antibody Deficiencies. Endocr Metab Immune Disord Drug Targets. 2018;18(5):537-45. 20. Hampson FA, Chandra A, Screaton NJ, Condliffe A, Kumararatne DS, Exley AR, et al. Respiratory disease in common variable immunodeficiency and other primary immunodeficiency disorders. Clin Radiol. 2012;67(6):587-95. 21. Maglione PJ, Ko HM, Beasley MB, Strauchen JA, Cunningham-Rundles C. Tertiary lymphoid neogenesis is a component of pulmonary lymphoid hyperplasia in patients with common variable immunodeficiency. J Allergy Clin Immunol. 2014;133(2):535-42. 22. Prasse A, Kayser G, Warnatz K. Common variable immunodeficiency-associated granulomatous and interstitial lung disease. Curr Opin Pulm Med. 2013;19(5):503-9. 23. Maarschalk-Ellerbroek LJ, de Jong PA, van Montfrans JM, Lammers JW, Bloem AC, Hoepelman AI, et al. CT screening for pulmonary pathology in common variable immunodeficiency disorders and the correlation with clinical and immunological parameters. J Clin Immunol. 2014;34(6):642-54. 24. Mayor PC, Eng KH, Singel KL, Abrams SI, Odunsi K, Moysich KB, et al. Cancer in primary immunodeficiency diseases: Cancer incidence in the United States Immune Deficiency Network Registry. J Allergy Clin Immunol. 2018;141(3):1028-35. 25. Huck K, Feyen O, Ghosh S, Beltz K, Bellert S, Niehues T. Memory B-cells in healthy and antibody-deficient children. Clin Immunol. 2009;131(1):50-9. 26. Oksenhendler E, Gérard L, Fieschi C, Malphettes M, Mouillot G, Jaussaud R, et al. Infections in 252 patients with common variable immunodeficiency. Clin Infect Dis. 2008;46(10):1547-54. 27. Alkan G, Keles S, Reisli İ. Evaluation of Clinical and Immunological Characteristics of Children with Common Variable Immunodeficiency. Int J Pediatr. 2018;2018:3527480. 28. Filion CA, Taylor-Black S, Maglione PJ, Radigan L, Cunningham-Rundles C. Differentiation of Common Variable Immunodeficiency From IgG Deficiency. J Allergy Clin Immunol Pract. 2019;7(4):1277-84. 29. Ameratunga R, Woon ST, Gillis D, Koopmans W, Steele R. New diagnostic criteria for common variable immune deficiency (CVID), which may assist with decisions to treat with intravenous or subcutaneous immunoglobulin. Clin Exp Immunol. 2013;174(2):203-11. 30. Cerutti A, Chen K, Chorny A. Immunoglobulin responses at the mucosal interface. Annu Rev Immunol. 2011;29:273-93.
1
ORIGINAL_ARTICLE
Comparison of the Familial and Sporadic Forms of Hyper IgM Syndrome in the Iranian Patients
Background/Objectives: Hyper IgM (HIGM) syndrome or immunoglobulin class-switch recombination deficiency (Ig-CSR) is a group of primary immunodeficiencies (PIDs) where B cells are unable to undergo the process of immunoglobulin class -switching recombination (CSR), a process in which B-cells modify their DNA to switch from production of IgM to other immunoglobulins. Hence, the affected patients exhibit normal to high levels of serum IgM and low or absence of other immunoglobulin isotypes relative to mean values of age. Therefore, the present study was conducted to assess the demographic data, clinical manifestation, and immunological findings in the sporadic and familial types of HIGM. Methodology: Demographic data, laboratory findings, and clinical presentations of 79 Iranian patients diagnosed with HIgM syndrome were collected. All the patients were classified into two different groups: sporadic and familial types of HIGM. Results: Male to female ratio was significantly higher in the familial group compared to the sporadic group so that, 94.7% of the patients were male in the familial group, while only 70% of the sporadic patients were male (P=0.032). It was also found that the familial group had a significantly higher consanguinity rate (P=0.047) and a significantly lower delay of diagnosis compared to the sporadic group (P=0.006). The lower respiratory infection (42%) followed by upper respiratory infection (26%) and diarrhea (15%) were the most frequent initial presentations. It was shown that diarrhea, as an initial presentation was about three times more common among the familial group (31.6%) compared to the sporadic group (10%, P=0.028). Otitis was also found to be more prevalent in the sporadic group (P=0.042). Conclusion: Our findings could be explained by more careful screenings and more vigilant and informative parents in the families with another affected member.
http://www.igjournal.ir/article_114664_5cdfcfc3ae6f57e3a7d6d0ed9b1c9585.pdf
2020-09-01
39
46
10.22034/igj.2020.247400.1048
Hyper IgM
Primary immunodeficiency
Sporadic HIGM
Familial HIGM
Salar
Pashangzadeh
salar71000@gmail.com
1
Department of Immunology, Faculty of Medicine, Iran University of Medical Sciences, Tehran, Iran
LEAD_AUTHOR
Kasra
Mehdizadeh
kassramhz@outlook.com
2
Faculty of Medicine, Qazvin University of Medical Sciences, Qazvin, Iran
AUTHOR
1. Davies EG, Thrasher AJ. Update on the hyper immunoglobulin M syndromes. Br J Haematol. 2010;149(2):167-80. 2. Tsai HY, Yu HH, Chien YH, Chu KH, Lau YL, Lee JH, et al. X-linked hyper-IgM syndrome with CD40LG mutation: two case reports and literature review in Taiwanese patients. J Microbiol Immunol Infect. 2015;48(1):113-8. 3. Korthauer U, Graf D, Mages HW, Briere F, Padayachee M, Malcolm S, et al. Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM. Nature. 1993;361(6412):539-41. 4. Yazdani R, Abolhassani H, Kiaee F, Habibi S, Azizi G, Tavakol M, et al. Comparison of Common Monogenic Defects in a Large Predominantly Antibody Deficiency Cohort. J Allergy Clin Immunol Pract. 2019;7(3):864-78.e9. 5. Etzioni A, Ochs HD. The hyper IgM syndrome--an evolving story. Pediatr Res. 2004;56(4):519-25. 6. Leven EA, Maffucci P, Ochs HD, Scholl PR, Buckley RH, Fuleihan RL, et al. Hyper IgM Syndrome: a Report from the USIDNET Registry. J Clin Immunol. 2016;36(5):490-501. 7. Lee WI, Torgerson TR, Schumacher MJ, Yel L, Zhu Q, Ochs HD. Molecular analysis of a large cohort of patients with the hyper immunoglobulin M (IgM) syndrome. Blood. 2005;105(5):1881-90. 8. Cabral-Marques O, Klaver S, Schimke LF, Ascendino EH, Khan TA, Pereira PV, et al. First report of the Hyper-IgM syndrome Registry of the Latin American Society for Immunodeficiencies: novel mutations, unique infections, and outcomes. J Clin Immunol. 2014;34(2):146-56. 9. Rawat A, Mathew B, Pandiarajan V, Jindal A, Sharma M, Suri D, et al. Clinical and molecular features of X-linked hyper IgM syndrome - An experience from North India. Clin Immunol. 2018;195:59-66. 10. Azizi G, Abolhassani H, Asgardoon MH, Rahnavard J, Dizaji MZ, Yazdani R, et al. The use of Immunoglobulin Therapy in Primary Immunodeficiency Diseases. Endocr Metab Im‐ mune Disord Drug Targets. 2016;16(2):80-8. 11. Brandt D, Gershwin ME. Common variable immune deficiency and autoimmunity. Autoimmun Rev. 2006;5(7):465-70. 12. Alkhairy OK, Perez-Becker R, Driessen GJ, Abolhassani H, van Montfrans J, Borte S, et al. Novel mutations in TNFRSF7/CD27: Clinical, immunologic, and genetic characterization of human CD27 deficiency. J Allergy Clin Immunol. 2015;136(3):703-12.e10. 13. Notarangelo LD, Duse M, Ugazio AG. Immunodeficiency with hyper-IgM (HIM). Immunodefic rev. 1992;3(2):101-21. 14. Qamar N, Fuleihan RL. The hyper IgM syndromes. Clin Rev Allergy Immunol. 2014;46(2):120-30. 15. Günaydin NC, Chou J, Karaca NE, Aksu G, Massaad MJ, Azarsiz E, et al. A novel disease-causing CD40L mutation reduces expression of CD40 ligand, but preserves CD40 bind-ing capacity. Clin Immunol. 2014;153(2):288-91. 16. Rosen FS, Kevy SV, Merler E, Janeway CA, Gitlin D. Recurrent bacterial infections and dysgamma-globulinemia: deficiency of 7S gamma-globulins in the presence of elevated 19S gamma-globulins. Report of two cases. Pediatrics. 1961;28:182-95. 17. Yazdani R, Fekrvand S, Shahkarami S, Azizi G, Moazzami B, Abolhassani H, et al. The hyper IgM syndromes: Epidemiology, pathogenesis, clinical manifestations, diagnosis and management. Clin Immunol. 2019;198:19-30. 18. Aghamohammadi A, Mohammadinejad P, Abolhassani H, Mirminachi B, Movahedi M, Gharagozlou M, et al. Primary immunodeficiency disorders in Iran: update and new insights from the third report of the national registry. J Clin Immunol. 2014;34(4):478-90. 19. Jain A, Ma CA, Liu S, Brown M, Cohen J, Strober W. Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia. Nat Immunol. 2001;2(3):223-8. 20. Abinun M. Ectodermal dysplasia and immunodeficiency. Arch Dis Child. 1995;73(2):185. 21. Zonana J, Elder ME, Schneider LC, Orlow SJ, Moss C, Golabi M, et al. A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO). Am J Hum Genet. 2000;67(6):1555-62. 22. Rezaei N, Aghamohammadi A, Moin M, Pourpak Z, Movahedi M, Gharagozlou M, et al. Frequency and clinical manifestations of patients with primary immunodeficiency disorders in Iran: update from the Iranian Primary Immunodeficiency Registry. J Clin Immunol. 2006;26(6):519-32. 23. Rezaei N, Pourpak Z, Aghamohammadi A, Farhoudi A, Movahedi M, Gharagozlou M, et al. Consanguinity in primary immunodeficiency disorders; the report from Iranian Primary Immunodeficiency Registry. Am J Reprod Immunol (New York, NY : 1989). 2006;56(2):145-51. 24. Al-Herz W, Aldhekri H, Barbouche MR, Rezaei N. Consanguinity and primary immunodeficiencies. Hum Hered. 2014;77(1-4):138-43. 25. Rivoisy C, Gérard L, Boutboul D, Malphettes M, Fieschi C, Durieu I, et al. Parental consanguinity is associated with a severe phenotype in common variable immunodeficiency. J Clin Immunol. 2012;32(1):98-105. 26. Schonell ME. Immunoglobulin levels in pneumonia. Clin Exp Immuno. 1971;8(1):63-8. 27. Valizadeh A, Yazdani R, Azizi G, Abolhassani H, Aghamohammadi A. A Comparison of Clinical and Immunologic Phenotypes in Familial and Sporadic Forms of Common Variable Immunodeficiency. Scand J Immunol. 2017;86(4):239-47.
1
ORIGINAL_ARTICLE
Case Report: MALT1 Mutation in A Patient with Severe Combined Immunodeficiency
Severe combined immunodeficiency (SCID) is one of the most serious and life-threatening forms of primary immunodeficiency disorders (PID). SCID patients manifest a large clinically heterogeneous group of monogenic disorders caused by a defect in human innate and adaptive immune response. It leads to an increased susceptibility to variety of infections, sometimes with fetal outcome. To date, more than 30 candidate genes and mutations in patients with SCID phenotype have been identified. We found a homozygous variation (c.1454 A>G_ p. Asn485Ser) in the MALT1 identified by WES in an expired infant with SCID. The mutation in MALT1 is associated with absence of T cell activation, which produces immature lymphocytes leading to SCID.
http://www.igjournal.ir/article_114665_95ba646164bda02465c3130d5ff5c57f.pdf
2020-09-01
47
52
10.22034/igj.2020.245559.1047
Whole exome sequencing
Severe Combined Immunodeficiency
Mucosa-associated lymphoid lymphoma translocation gene 1
Paniz
Shirmast
paniz.shirmast@gmail.com
1
Department of Microbiology and Virology, Faculty of medicine, Zanjan University of Medical Sciences, Zanjan, Iran
AUTHOR
Kimiya
Padidar
kimiya.padidar@gmail.com
2
Department of Molecular Genetics, Faculty of Basic Sciences and Advanced Technologies in biology, University of Science and Culture, Tehran, Iran
AUTHOR
Tannaz
Moeini shad
tnzmsh2014@gmail.com
3
Department of Immunology, Semnan University of Medical Sciences, Semnan, Iran
LEAD_AUTHOR
1. Bousfiha A, Jeddane L, Picard C, Ailal F, Gaspar HB, Al-Herz W, et al. The 2017 IUIS phenotypic classification for primary immunodeficiencies. J. Clin. Immunol. 2018;38(1):129-43. 2. Lipstein EA, Vorono S, Browning MF, Green NS, Kemper AR, Knapp AA, et al. Systematic evidence review of newborn screening and treatment of severe combined immunodeficiency. Pediatrics. 2010;125(5):e1226-e35. 3. Routes J, Verbsky J. Newborn screening for severe combined immunodeficiency. CURR ALLERGY ASTHM R. 2018;18(6):34. 4. Van Der Spek J, Groenwold RH, Van Der Burg M, van Montfrans JM. TREC based newborn screening for severe combined immunodeficiency disease: a systematic review. J. Clin. Immunol. 2015;35(4):416-30. 5. Kumrah R, Vignesh P, Patra P, Singh A, Anjani G, Saini P, et al. Genetics of severe combined immunodeficiency. Genes Dis. 2020;7(1):52-61. 6. Aluri J, Desai M, Gupta M, Dalvi A, Terance A, Rosenzweig SD, et al. Clinical, immunological, and molecular findings in 57 patients with severe combined immunodeficiency (SCID) from India. Front. Immunol. 2019;10:23. 7. Tasher D, Dalal I. The genetic basis of severe combined immunodeficiency and its variants. Appl. Clin. Genet. 2012;5:67. 8. Lionakis MS, Netea MG, Holland SM. Mendelian genetics of human susceptibility to fungal infection. Cold Spring Harb Perspect Med. 2014;4(6):a019638. 9. Baker MW, Grossman WJ, Laessig RH, Hoffman GL, Brokopp CD, Kurtycz DF, et al. Development of a routine newborn screening protocol for severe combined immunodeficiency. J. Allergy Clin. Immunol. 2009;124(3):522-7. 10. Amatuni GS, Currier RJ, Church JA, Bishop T, Grimbacher E, Nguyen AA-C, et al. Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California, 2010–2017. Pediatrics. 2019;143(2). 11. Lucas PC, McAllister-Lucas LM, Nuñez G. NF-κB signaling in lymphocytes: a new cast of characters. J. Cell Sci. 2004;117(1):31-9. 12. Lee CH, Bae SJ, Kim M. Mucosa-associated lymphoid tissue lymphoma translocation 1 as a novel therapeutic target for rheumatoid arthritis. Sci. Rep. 2017;7(1):1-11.13. Lee Y-H, Huang J-H, Chang T-H, Yang H-C, Wu-Hsieh BA. Mucosa-associated lymphoid tissue lymphoma translocation protein 1 positively modulates matrix metalloproteinase-9 production in alveolar macrophages upon Tolllike receptor 7 signaling and influenza virus infection. Front. Immunol. 2017;8:1177. 14. Juilland M, Thome M. Holding all the CARDs: how MALT1 controls CARMA/CARD-dependent signaling. Front. Immunol. 2018;9:1927. 15. Frizinsky S, Rechavi E, Barel O, Najeeb RH, Greenberger S, Lee YN, et al. Novel MALT1 mutation linked to immunodeficiency, immune dysregulation, and an abnormal T cell receptor repertoire. J. Clin. Immunol. 2019;39(4):401-13. 16. Staal J, Bekaert T, Beyaert R. Regulation of NF-κB signaling by caspases and MALT1 paracaspase. Cell Res. 2011;21(1):40-54. 17. de Diego RP, Sánchez-Ramón S, LópezCollazo E, Martínez-Barricarte R, Cubillos-Zapata C, Cerdán AF, et al. Genetic errors of the human CARD-BCL10-MALT1 (CBM) complex: molecular, immunological, and clinical heterogeneity. Allergy Clin. Immunol. 2015;136(5):1139. 18. Caamaño J, Hunter CA. NF-κB family of transcription factors: central regulators of innate and adaptive immune functions. Clin. Microbiol. Rev. 2002;15(3):414-29. 19. Braun DA, Schueler M, Halbritter J, Gee HY, Porath JD, Lawson JA, et al. Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity. Kidney Int. 2016;89(2):468-75. 20. Al-Herz W, Bousfiha A, Casanova J-L, Chatila T, Conley ME, Cunningham-Rundles C, et al. Corrigendum: Primary immunodeficiency diseases: An update on the classification from the International Union of Immunological Societies Expert Committee for primary immunodeficiency. Front Immunol. 2014;5:460. 21. Casanova J-L, Abel L. Primary immunodeficiencies: a field in its infancy. Science. 2007;317(5838):617-9. 22. Casanova J-L, Abel L. The genetic theory of infectious diseases: a brief history and selected illustrations. Annu Rev Genom Hum G. 2013;14:215-43. 23. Buckley RH. Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution. Annu Rev Immunol. 2004;22:625-55. 24. Notarangelo LD. Functional T cell immunodeficiencies (with T cells present). Annu. Rev. Immunol. 2013;31:195-225. 25. Lanternier F, Pathan S, Vincent QB, Liu L, Cypowyj S, Prando C, et al. Deep dermatophytosis and inherited CARD9 deficiency. N. Engl. J. Med. 2013;369(18):1704-14. 26. Stepensky P, Keller B, Buchta M, Kienzler A-K, Elpeleg O, Somech R, et al. Deficiency of caspase recruitment domain family, member 11 (CARD11), causes profound combined immunodeficiency in human subjects. J. Allergy Clin. Immunol. 2013;131(2):477-85. e1. 27. Jabara HH, Ohsumi T, Chou J, Massaad MJ, Benson H, Megarbane A, et al. A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency. J. Allergy Clin. Immunol. 2013;132(1):151-8. 28. McKinnon ML, Rozmus J, Fung S-Y, Hirschfeld AF, Del Bel KL, Thomas L, et al. Combined immunodeficiency associated with homozygous MALT1 mutations. J. Allergy Clin. Immunol. 2014;133(5):1458-62. e7. 29. Punwani D, Wang H, Chan AY, Cowan MJ, Mallott J, Sunderam U, et al. Combined immunodeficiency due to MALT1 mutations, treated by hematopoietic cell transplantation. J. Clin. Immunol. 2015;35(2):135-46. 30. Charbit-Henrion F, Jeverica AK, Bègue B, Markelj G, Parlato M, Avcin SL, et al. Deficiency in mucosa-associated lymphoid tissue lymphoma translocation 1: a novel causeof IPEX-like syndrome. J Pediatr Gastr Nutr. 2017;64(3):378-84. 31. Bornancin F, Renner F, Touil R, Sic H, Kolb Y, Touil-Allaoui I, et al. Deficiency of MALT1 paracaspase activity results in unbalanced regulatory and effector T and B cell responses leading to multiorgan inflammation. J. Immunol. 2015;194(8):3723-34. 32. Wiegmann H, Reunert J, Metze D, Marquardt T, Engel T, Kunde V, et al. Refining the dermatological spectrum in primary immunodeficiency: mucosa‐associated lymphoid tissue lymphoma translocation protein 1 deficiency mimicking Netherton/Omenn syndromes. Br. J. Dermatol. 2020;182(1):202-7. 33. Afonina IS, Van Nuffel E, Baudelet G, Driege Y, Kreike M, Staal J, et al. The paracaspase MALT 1 mediates CARD 14‐induced signaling in keratinocytes. EMBO Rep. 2016;17(6):914-27. 34. Demeyer A, Van Nuffel E, Baudelet G, Driege Y, Kreike M, Muyllaert D, et al. MALT1-deficient mice develop atopic-like dermatitis upon aging. FRONT IMMUNOL. 2019;10:2330. 35. Ma CA, Stinson JR, Zhang Y, Abbott JK, Weinreich MA, Hauk PJ, et al. Germline hypomorphic CARD11 mutations in severe atopic disease. Nat.Genet. 2017;49(8):1192. 36. Dadi H, Jones TA, Merico D, Sharfe N, Ovadia A, Schejter Y, et al. Combined immunodeficiency and atopy caused by a dominant negative mutation in caspase activation and recruitment domain family member 11 (CARD11). J. Allergy Clin. Immunol. 2018;141(5):1818-30. e2. 37. Dorjbal B, Stinson JR, Ma CA, Weinreich MA, Miraghazadeh B, Hartberger JM, et al. Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease. J. Allergy Clin. Immunol. 2019;143(4):1482-95. 38. Glocker E-O, Hennigs A, Nabavi M, Schäffer AA, Woellner C, Salzer U, et al. A homozygous CARD9 mutation in a family with susceptibility to fungal infections. N. Engl. J. Med. 2009;361(18):1727-35. 39. Snow AL, Xiao W, Stinson JR, Lu W, Chaigne-Delalande B, Zheng L, et al. Congenital B cell lymphocytosis explained by novel germline CARD11 mutationsGermline CARD11 mutations in humans. J EXP MED. 2012;209(12):2247-61.
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ORIGINAL_ARTICLE
Normal Expression of cytotoxic T-lymphocyte-associated protein 4 (CTLA4) in LPS-responsive and beige-like anchor protein (LRBA) Patient
Bialelic LRBA mutations leads to an Immune dysregulation disorder which name is LRBA deficiency. A wide spectrum of clinical manifestation associated with recurrent infections, enteropathy, hypogammaglobulinemia, and autoimmune manifestations. LRBA interacts with CTLA-4 within recycling it to the T-cell surface. Accordingly, LRBA deficiency abolish CTLA4 protein expression. In this study, we present a case with homozygous mutation in LRBA gene and normal level of CTLA4 protein. This patient revelaed low immunoglobulin levels, CD4+ cells, and CD19+ cells.
http://www.igjournal.ir/article_114666_8497e56c8e48a483aaae8999c4cf0a6f.pdf
2020-09-22
53
58
10.22034/igj.2020.245520.1046
LRBA
hypogammaglobulinemia
enteropathy
CTLA4
Fereshte
Salami
freshtesalami@gmail.com
1
1- Reproductive Immuology Research Center, Shahid Sadoughi University of Medical Sciences, Yazd, Irann
LEAD_AUTHOR
1. Habibi S, Zaki-Dizaji M, Rafiemanesh H, Lo B, Jamee M, Gamez-Diaz L, et al. Clinical, Immunologic, and Molecular Spectrum of Patients with LPS-Responsive Beige-Like Anchor Protein Deficiency: A Systematic Review. J Allergy Clin Immunol Pract. 2019;7(7):2379-86 e5. 2. Azizi G, Abolhassani H, Zaki-Dizaji M, Habibi S, Mohammadi H, Shaghaghi M, et al. Polyautoimmunity in Patients with LPS-Responsive Beige-Like Anchor (LRBA) Deficiency. Immunol Invest. 2018;47(5):457-67. 3. Azizi G, Abolhassani H, Habibi S, Rahamooz T, Mohammadi H, Jafarnezhad-Ansariha F, et al. Two Faces of LRBA Deficiency in Siblings: Hypogammaglobulinemia and Normal Immunoglobulin Levels. J Investig Allergol Clin Immunol. 2018;28(1):48-50. 4. Azizi G, Abolhassani H, Yazdani R, Mohammadikhajehdehi S, Parvaneh N, Negahdari B, et al. New therapeutic approach by sirolimus for enteropathy treatment in patients with LRBA deficiency. Eur Ann Allergy Clin Immunol. 2017;49(5):235-9. 5. Alkhairy OK, Abolhassani H, Rezaei N, Fang M, Andersen KK, Chavoshzadeh Z, et al. Spectrum of Phenotypes Associated with Mutations in LRBA. J Clin Immunol. 2016;36(1):33-45. 6. Lopez-Herrera G, Tampella G, Pan-Hammarstrom Q, Herholz P, Trujillo-Vargas CM, Phadwal K, et al. Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity. Am J Hum Genet. 2012;90(6):986-1001. 7. Azizi G, Mirshafiey A, Abolhassani H, Yazdani R, Ghanavatinejad A, Noorbakhsh F, et al. The imbalance of circulating T helper subsets and regulatory T cells in patients with LRBA deficiency: Correlation with disease severity. J Cell Physiol. 2018;233(11):8767-77. 8. Salami F, Shirkani A, Shahrooei M, Azizi G, Yazdani R, Abolhassani H, et al. Leishmaniasis and Autoimmunity in Patient with LPS-Re-sponsive Beige-Like Anchor Protein (LRBA) Deficiency. Endocr Metab Immune Disord Drug Targets. 2020;20(3):479-84. 9. Azizi G, Abolhassani H, Mahdaviani SA, Chavoshzadeh Z, Eshghi P, Yazdani R, et al. Clinical, immunologic, molecular analyses and outcomes of iranian patients with LRBA deficiency: A longitudinal study. Pediatr Allergy Immunol. 2017;28(5):478-84. 10. Rowshanravan B, Halliday N, Sansom DM. CTLA-4: a moving target in immunotherapy. Blood. 2018;131(1):58-67. 11. Lo B, Abdel-Motal UM. Lessons from CTLA4 deficiency and checkpoint inhibition. Curr Opin Immunol. 2017;49:14-9. 12. Alroqi FJ, Charbonnier LM, Baris S, Kiykim A, Chou J, Platt CD, et al. Exaggerated follicular helper T-cell responses in patients with LRBA deficiency caused by failure of CTLA4-mediated regulation. J Allergy Clin Immunol. 2018;141(3):1050-9 e10. 13. Kostel Bal S, Haskologlu S, Serwas NK, Islamoglu C, Aytekin C, Kendirli T, et al. Multiple Presentations of LRBA Deficiency: a Single-Center Experience. J Clin Immunol. 2017;37(8):790-800. 14. Lo B, Zhang K, Lu W, Zheng L, Zhang Q, Kanellopoulou C, et al. Autoimmune Disease. Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy. Science. 2015;349(6246):436-40. 15. Martínez Jaramillo C, Trujillo-Vargas CM. LRBA in the endomembrane system. Colomb Med (Cali). 2018;49(3):236-43. 16. Cepika AM, Sato Y, Liu JM, Uyeda MJ, Bacchetta R, Roncarolo MG. Tregopathies: Monogenic diseases resulting in regulatory T-cell deficiency. J Allergy Clin Immunol. 2018;142(6):1679-95. 17. De Bruyne M, Bogaert DJ, Venken K, Van den Bossche L, Bonroy C, Roels L, et al. A novel LPS-responsive beige-like anchor protein (LRBA) mutation presents with normal cytotoxic T lymphocyte-associated protein 4 (CTLA-4) and overactive T(H)17 immunity. J Allergy Clin Immunol. 2018;142(6):1968-71. 18. Gámez-Díaz L, August D, Stepensky P, Revel-Vilk S, Seidel MG, Noriko M, et al. The extended phenotype of LPS-responsive beigelike anchor protein (LRBA) deficiency. J Allergy Clin Immunol. 2016;137(1):223-30. 19. Tesi B, Priftakis P, Lindgren F, Chiang SC, Kartalis N, Löfstedt A, et al. Successful Hematopoietic Stem Cell Transplantation in a Patient with LPS-Responsive Beige-Like Anchor (LRBA) Gene Mutation. J Clin Immunol. 2016;36(5):480-9. 20. Azizi G, Jamee M, Yazdani R, Bagheri Y, Fayyaz F, Jadidi-Niaragh F, et al. CTLA-4 Expression in CD4+ T Cells From Patients With LRBA Deficiency and Common Variable Immunodeficiency With No Known Monogenic Disease. J Investig Allergol Clin Immunol. 2018;28(6):422-4. 21. Burnett DL, Parish IA, Masle-Farquhar E, Brink R, Goodnow CC. Murine LRBA deficiency causes CTLA-4 deficiency in Tregs without progression to immune dysregulation. Immunol Cell Biol. 2017;95(9):775-88. 22. De Bruyne M, Bogaert DJ, Venken K, Van den Bossche L, Bonroy C, Roels L, et al. A novel LPS-responsive beige-like anchor protein (LRBA) mutation presents with normal cytotoxic T lymphocyte-associated protein 4 (CTLA-4) and overactive TH17 immunity. J Allergy Clin Immunol. 2018;142(6):1968-71. 23. Burnett DL, Parish IA, Masle-Farquhar E, Brink R, Goodnow CC. Murine LRBA deficiency causes CTLA-4 deficiency in Tregs without progression to immune dysregulation. Immunol. Cell Biol 2017;95(9):775-88. 24. De Bruyne M, Bogaert DJ, Venken K, Van den Bossche L, Bonroy C, Roels L, et al. A novel LPS-responsive beige-like anchor protein (LRBA) mutation presents with normal cytotoxic T lymphocyte-associated protein 4 (CTLA-4) and overactive TH17 immunity. J Allergy Clin Immunol . 2018; 142(6):1968-71.
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