Recent Advances and Current Status of Primary Immunodeficiency Disease in Iran

Document Type : Review

Authors

Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran

Abstract

Although comprehension of the molecularbasis of primary immunodeficiency diseases (PID) provides unique insight into the functioning of the immune system, translational research is also needed to provide better care to affected individuals. Many institutions and academic departments have been established to provide training and encourage collaborative research on the immune system and related disorders. In Iran, one of the frontiers of PIDs in the Middle Eastern region, considerable progress in basic and clinical immunology has been achieved during the last three decades. During this period, massive improvements have revolutionized the management of PIDs in the country, from educational and research related aspects to diagnostic procedures and treatments available to Iranian PID patients. In this review, we seek to elucidate the current status of PIDs in Iran from different angles and to speculate upon the opportunities that the future may bring.

Keywords


 
1.Picard C, Bobby Gaspar H, Al-Herz W, Bousfiha A, Casanova JL, Chatila T, et al. International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity. J Clin Immunol. 2018 Jan;38(1):96- 128.
2.Tauber AI, Chernyak L. The birth of immunology. II. Metchnikoff and his critics. Cellular immunology. 1989 Jul;121(2):447-73.
3.von Behring E, Kitasato S. [The mechanism of diphtheria immunity and tetanus immunity in animals. 1890]. Molecular immunology. 1991 Dec;28(12):1317, 9-20
. 4.Alper CA, Rosen FS, editors. Inherited deficiencies of complement proteins in man. Springer seminars in immunopathology; 1984: Springer. 5.Schultz W. Ueber eigenartige halserkrankungen. Dtsch Med Wochenschr. 1922;48(1495):7. 6.Syllaba L, Henner K. Contribution an l'independence de l'athetose double idiopathique et congenitale. Rev Neurol. 1926;1(541-562):147. 7.Wiskott A. Familiarer, angeborener morbus werlhofii? Monatsschr Kinderheilkd. 1937;68:212-6 8.Bruton OC. Agammaglobulinemia. Pediatrics. 1952 Jun;9(6):722-8. 9.Picard C, Al-Herz W, Bousfiha A, Casanova JL, Chatila T, Conley ME, et al. Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015. Journal of clinical immunology. 2015 Nov;35(8):696-726. 10.Rezaei N, Aghamohammadi A, Notarangelo LD. Primary immunodeficiency diseases: Definition, diagnosis, and management: Springer Science & Business Media; 2008. 11.Rezaei N. Obituary: Abolhassan Farhoudi (1924- 2006). Iranian Journal of Allergy, Asthma and Immunology. 2006;5(1):1-2. 12.Farhoudi A. Cell-mediated immunodeficiency after BCG vaccination. Developments in biological standardization. 1986;58 ( Pt A):347-9.13.Farhoudi AH. [Recurrent pneumococcal meningitis associated with C3 deficiency]. Presse medicale (Paris, France : 1983). 1988 Apr 16;17(14):696. 14.Dashti-Khavidaki S, Aghamohammadi A, Farshadi F, Movahedi M, Parvaneh N, Pouladi N, et al. Adverse reactions of prophylactic intravenous immunoglobulin; a 13-year experience with 3004 infusions in Iranian patients with primary immunodeficiency diseases. Journal of investigational allergology & clinical immunology. 2009;19(2):139-45. 15.Aghamohammadi A, Moin M, Farhoudi A, Rezaei N, Pourpak Z, Movahedi M, et al. Efficacy of intravenous immunoglobulin on the prevention of pneumonia in patients with agammaglobulinemia. FEMS immunology and medical microbiology. 2004 Mar 8;40(2):113-8. 16.Rezaei N, Abolhassani H, Aghamohammadi A, Ochs HD. Indications and safety of intravenous and subcutaneous immunoglobulin therapy. Expert review of clinical immunology. 2011 May;7(3):301-16. 17.Mozaffari H, Pourpak Z, Pourseyed S, Moin M, Farhoodi A, Aghamohammadi A, et al. Health-related quality of life in primary immune deficient patients. Iranian journal of allergy, asthma, and immunology. 2006 Mar;5(1):23. 18.Aghamohammadi A, Pouladi N, Parvaneh N, Yeganeh M, Movahedi M, Gharagolou M, et al. Mortality and morbidity in common variable immunodeficiency. Journal of tropical pediatrics. 2007 Feb;53(1):32-8. 19.Mir Saeid Ghazi B, Aghamohammadi A, Kouhi A, Farhoudi A, Moin M, Rezaei N, et al. Mortality in primary immunodeficient patients, registered in Iranian primary immunodeficiency registry. Iranian journal of allergy, asthma, and immunology. 2004 Mar;3(1):31-6. 20.Pourpak Z, Aghamohammadi A, Sedighipour L, Farhoudi A, Movahedi M, Gharagozlou M, et al. Effect of regular intravenous immunoglobulin therapy on prevention of pneumonia in patients with common variable immunodeficiency. Journal of microbiology, immunology, and infection = Wei mian yu gan ran za zhi. 2006 Apr;39(2):114-20. 21.Salehzadeh M, Aghamohammadi A, Rezaei N. Evaluation of immunoglobulin levels and infection rate in patients with common variable immunodeficiency after immunoglobulin replacement therapy. Journal of microbiology, immunology, and infection = Wei mian yu gan ran za zhi. 2010 Feb;43(1):11-7. 22.Abolhassani H, Sadaghiani MS, Aghamohammadi A, Ochs HD, Rezaei N. Homebased subcutaneous immunoglobulin versus hospital-based intravenous immunoglobulin in treatment of primary antibody deficiencies: systematic review and meta analysis. Journal of clinical immunology. 2012 Dec;32(6):1180-92. 23.Aghamohammadi A, Farhoudi A, Moin M, Pourpak Z, Rezaei N, Nikzad M, et al. Adverse effects of intravenous immunoglobulin therapy in patients with antibody deficiency. Iranian journal of allergy, asthma, and immunology. 2003 Sep;2(3):121-6. 24.Abolhassani H, Aghamohammadi A, Abolhassani F, Eftekhar H, Heidarnia M, Rezaei N. Health policy for common variable immunodeficiency: burden of the disease. Journal of investigational allergology & clinical immunology. 2011;21(6):454-8. 25.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. Journal of clinical immunology. 2006 Nov;26(6):519-32. 26.Farhoudi A, Aghamohammadi A, Moin M, Rezaei N, Pourpak Z, Movahedi M, et al. Distribution of primary immunodeficiency disorders diagnosed in the Children's Medical Center in Iran. Journal of investigational allergology & clinical immunology. 2005;15(3):177-82. 27.Aghamohammadi A, Abolhassani H, Mohammadinejad P, Rezaei N. The approach to children with recurrent infections. Iranian journal of allergy, asthma, and immunology. 2012 Jun;11(2):89-109. 28.Karimi A, Isaiyan A, Aghamohammadi A, Moin M, Zandiyeh F, Dini AT,et al. Immunological evaluation of children with recurrent ear, nose, and throat (ENT) infections. Iranian journal of pediatrics. 2007;17(Suppl 1):5-13. 29.McPhee SJ, Lo B, Saika GY, Meltzer R. How good is communication between primary care physicians and subspecialty consultants? Archives of internal medicine. 1984 Jun;144(6):1265-8. 30.Yazdani R, Heydari A, Azizi G, Abolhassani H, Aghamohammadi A. Asthma and Allergic Diseases in a Selected Group of Patients With Common Variable Immunodeficiency. Journal of investigational allergology & clinical immunology. 2016;26(3):209-11. 31.Abolhassani H, Farrokhi AS, Pourhamdi S, Mohammadinejad P, Sadeghi B, Moazzeni S-M, et al. Expression of activation-induced cytidine deaminase gene in B lymphocytes of patients with common variable immunodeficiency. Iranian journal of pediatrics. 2013;23(4):451. 32.Abolhassani H, Sagvand BT, Shokuhfar T, Mirminachi B, Rezaei N, Aghamohammadi A. A review on guidelines for management and treatment of common variable immunodeficiency. Expert review of clinical immunology. 2014. 33.Ghazi BMS, Aghamohammadi A, Kouhi A, Farhoudi A, Moin M, Rezaei N, et al. Mortality in primary immunodeficient patients, registered in Iranian primary immunodeficiency registry. Iranian Journal of Allergy, Asthma and Immunology. 2004;3(1):31-5. 34.Aghamohammadi A, Fiorini M, Moin M, Parvaneh N, Teimourian S, Yeganeh M, et al. Clinical, immunological and molecular characteristics of 37 Iranian patients with X-linked agammaglobulinemia. International archives of allergy and immunology. 2006;141(4):408-14. 35.Moin M, Aghamohammadi A, Farhoudi A, Pourpak Z, Rezaei N, Movahedi M, et al. X‐linked agammaglobulinemia: a survey of 33 Iranian patients. Immunological investigations. 2004;33(1):81-93. 36.Mohammadzadeh I, Shahbaznejad L, Wang N, Farhadi E, Aghamohammadi A, Hammarström L, et al. A novel CD40 ligand mutation in a patient with pneumonia, neutropenia, and hyperimmunoglobulin M phenotype. Journal of investigational allergology & clinical immunology. 2012;23(1):50-1. 37.Atarod L, Aghamohammadi A, Moin M, Kanegane H, Rezaei N, Kalantari KR, et al. Successful management of neutropenia in a patient with CD40 ligand deficiency by immunoglobulin replacement therapy. Iranian Journal of Allergy, Asthma and Immunology. 2007;6(1):37-41. 38.Aghamohammadi A, Mohammadi J, Parvaneh N, Rezaei N, Moin M, Espanol T, et al. Progression of selective IgA deficiency to common variable immunodeficiency. International archives of allergy and immunology. 2008;147(2):87-92. 39.Nikfarjam J, Shahrabi M, Pourpak Z, Nikfarjam L, Kouhkan A, Aghamohammadi A, et al. Oral manifestations in selective IgA deficiency. International journal of dental hygiene. 2004;2(1):19-25. 40.Soheili H, Abolhassani H, Arandi N, Khazaei HA, Shahinpour S, Hirbod-Mobarakeh A, et al. Evaluation of natural regulatory T cells in subjects with selective IgA deficiency: from senior idea to novel opportunities. International archives of allergy and immunology. 2012;160(2):208-14. 41.Farhoudi A, Chavoshzadeh Z, Ghazi BMS, Aghamohammadi A, Gharagozlou M. Recurrent infections and bilateral uveitis in a patient with CD8 deficiency. receptor. 2005;3:5. 42.Yeganeh M, Heidarzade M, Pourpak Z, Parvaneh N, Rezaei N, Gharagozlou M, et al. Severe combined immunodeficiency: a cohort of 40 patients. Pediatric Allergy and Immunology. 2008;19(4):303-6. 43.Norouzi S, Aghamohammadi A, Mamishi S, Rosenzweig SD, Rezaei N. Bacillus CalmetteGuérin (BCG) complications associated with primary immunodeficiency diseases. Journal of Infection. 2012;64(6):543-54. 44.Moin M, Aghamohammadi A, Kouhi A, Tavassoli S, Rezaei N, Ghaffari S-R, et al. Ataxiatelangiectasia in Iran: clinical and laboratory features of 104 patients. Pediatric neurology. 2007;37(1):21-8. 45.Isaian A, Bogdanova NV, Houshmand M, Movahadi M, Agamohammadi A, Rezaei N, et al. BAK, BAX, and NBK/BIK proapoptotic gene alterations in Iranian patients with Ataxia Telangiectasia. Journal of clinical immunology. 2010;30(1):132-7. 46.Moghtaderi M, Kashef S, Rezaei N. Interstitial lung disease in a patient with chronic granulomatous disease. Iranian journal of pediatrics. 2012 Mar;22(1):129-33. 47.Movahedi M, Aghamohammadi A, Rezaei N, Shahnavaz N, Babaei Jandaghi A, Farhoudi A, et al. Chronic granulomatous disease: a clinical survey of 41patients from the Iranian primary immunodeficiency registry. International archives of allergy and immunology. 2004;134(3):253-9. 48.Farhoudi A, Chavoshzadeh Z, Pourpak Z, Izadyar M, Gharagozlou M, Movahedi M, et al. Report of six cases of chediak-higashi syndrome with regard to clinical and laboratory findings. Iranian journal of allergy, asthma, and immunology. 2003 Dec;2(4):189-92. 49.Eghbali A, Eshghi P, Malek F, Rezaei N. Cardiac and renal malformations in a patient with sepsis and severe congenital neutropenia. Iranian journal of pediatrics. 2010;20(2):225. 50.Rezaei N, Farhoudi A, Ramyar A, Pourpak Z, Aghamohammadi A, Mohammadpour B, et al. Congenital neutropenia and primary immunodeficiency disorders: a survey of 26 Iranian patients. Journal of pediatric hematology/oncology. 2005;27(7):351-6. 51.Rezaei N, Farhoudi A, Pourpak Z, Aghamohammadi A, Moin M, Movahedi M, et al. Neutropenia in Iranian patients with primary immunodeficiency disorders. Haematologica. 2005;90(4):554-6. 52.Rezaei N, Farhoudi A, Pourpak Z, Aghamohammadi A, Ramyar A, Moin M, et al. Clinical and laboratory findings in Iranian children with cyclic neutropenia. Iranian Journal of Allergy, Asthma and Immunology. 2004;3(1):37-40. 53. Rezaei N, Farhoudi A, Pourpak Z, Aghamohammadi A, Moin M, Gharagozlou M, et al. Neutropenia in patients with primary antibody deficiency disorders. Iranian Journal of Allergy, Asthma and Immunology. 2004;3(2):77-82. 54. Rezaei N, Aghamohammadi A. Hyper-IgE syndrome. Journal of postgraduate medicine. 2010 Apr-Jun;56(2):63-4. 55. Moin M, Farhoudi A, Movahedi M, Rezaei N, Pourpak Z, Yeganeh M, et al. The clinical and laboratory survey of Iranian patients with hyper-IgE syndrome. Scandinavian journal of infectious diseases. 2006;38(10):898-903. 56. Behmanesh F. Leukocyte Adhesion Deficiency; Case Report. Iranian journal of pediatrics. 2007;17(Suppl 2):311-3. 57. Movahedi M, Entezari N, Pourpak Z, Mamishi S, Chavoshzadeh Z, Gharagozlou M, et al. Clinical and laboratory findings in Iranian patients with leukocyte adhesion deficiency (study of 15 cases). Journal of clinical immunology. 2007;27(3):302-7. 58. Parvaneh N, Mamishi S, Rezaei A, Rezaei N, Tamizifar B, Parvaneh L, et al. Characterization of 11 new cases of leukocyte adhesion deficiency type 1 with seven novel mutations in the ITGB2 gene. Journal of clinical immunology. 2010;30(5):756-60. 59. Ashrafi MR, Mohseni M, Yazdani S, Alizadeh H, Ramyar A, Aghamohammadi A, et al. Bilateral basal ganglia involvement in a patient with Griscelli syndrome. European Journal of Paediatric Neurology. 2006;10(4):207-9. 60. Aghamohammadi A, Kanegane H, Moein M, Farhoudi A, Pourpak Z, Movahedi M, et al. Identification of anSH2D1A mutation in a hypogammaglobulinemic male patient with a diagnosis of common variable immunodeficiency. International journal of hematology. 2003;78(1):45- 7. 61. Farhadi E, Nemati S, Amirzargar A, HirbodMobarakeh A, Nabavi M, Soltani S, et al. AICDA single nucleotide polymorphism in common variable immunodeficiency and selective IgA deficiency. Allergologia et immunopathologia. 2014;42(5):422-6. 62.Klein C, Grudzien M, Appaswamy G, Germeshausen M, Sandrock I, Schäffer AA, et al. HAX1 deficiency causes autosomal recessive severe congenital neutropenia(Kostmann disease). Nature genetics. 2007;39(1):86-92.63. Boztug K, Appaswamy G, Ashikov A, Schäffer AA, Salzer U, Diestelhorst J, et al. A syndrome with congenital neutropenia and mutations in G6PC3. New England Journal of Medicine. 2009;360(1):32-43. 64. Salipante SJ, Benson KF, Luty J, Hadavi V, Kariminejad R, Kariminejad MH, et al. Double de novo mutations of ELA2 in cyclic and severe congenital neutropenia. Human mutation. 2007;28(9):874-81. 65. 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. New England Journal of Medicine. 2009;361(18):1727-35. 66. Vogt G, Chapgier A, Yang K, Chuzhanova N, Feinberg J, Fieschi C, et al. Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations. Nature genetics. 2005;37(7):692-700. 67. Saghafi S, Pourpak Z, Nussbaumer F, Fazlollahi MR, Houshmand M, Hamidieh AA, et al. DOCK8 deficiency in six Iranian patients. Clinical Case Reports. 2016;4(6):593-600. 68. Abdollahpour H, Appaswamy G, Kotlarz D, Diestelhorst J, Beier R, Schäffer AA, et al. The phenotype of human STK4 deficiency. Blood. 2012;119(15):3450-7. 69. Alkhairy OK, Abolhassani H, Rezaei N, Fang M, Andersen KK, Chavoshzadeh Z, et al. Spectrum of phenotypes associated with mutations in LRBA. Journal of clinical immunology. 2016;36(1):33-45. 70. Rezaei N, Aghamohammadi A, Mahmoudi M, Shakiba Y, Kardar GA, Mahmoudi M, et al. Association of IL-4 and IL-10 gene promoter polymorphisms with common variable immunodeficiency.Immunobiology. 2010;215(1):81-7. 71. Javad M, Zahra P, Sara J, Shiva S, Kazem Z, Akbar PA, et al. Human leukocyte antigens (HLA) associated with selective IgA deficiency in Iran and Sweden. Iranian Journal of Allergy, Asthma and Immunology. 2008;7(4):209-14. 72. Kiani-amin M, Daneshi M, Ayazi P, Mohammadian S, Rezaei N. Serum immunoglobulin levels in splenectomized and non-splenectomized patients with major Beta-thalassemia. Iranian journal of pediatrics. 2011;21(1):95. 73. Rezaei N, Abolhassani H, Kasraian A, Mohammadinejad P, Sadeghi B, Aghamohammadi, A. Family study of pediatric patients with primary antibody deficiencies. Iranian Journal of Allergy, Asthma and Immunology. 2013;12(4):377. 74. Rezaei N, Mohammadinejad P, Aghamohammadi A. The demographics of primary immunodeficiency diseases across the unique ethnic groups in Iran, and approaches to diagnosis and treatment. Annals of the New York Academy of Sciences. 2011;1238(1):24-32. 75. 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. American Journal of Reproductive Immunology. 2006;56(2):145-51. 76. Farhoudi A, Aghamohammadi A, Moin M, Rezaei N, Pourpak Z, Movahedi M, et al.Distribution of primary immunodeficiency disorders diagnosed in the Children's Medical Center in Iran. Journal of Investigational Allergology and Clinical Immunology. 2005;15(3):177. 77. Aghamohammadi A, Moin M, Rezaei N. History of primary immunodeficiency diseases in Iran. Iranian journal of pediatrics. 2010;20(1):16-34. 78. Mozaffari H, Pourpak Z, Pourseyed S, Moin M, Farhoodi A, Aghamohammadi A, et al. Healthrelated quality of life in primary immune deficient patients. Iranian Journal of Allergy, Asthma and Immunology. 2006;5(1):23-7. 79. Aghamohammadi A, Moein M, Farhoudi A, Pourpak Z, Rezaei N, Abolmaali K, et al. Primary immunodeficiency in Iran: first report of the National Registry of PID in Children and Adults. Journal of clinical immunology. 2002;22(6):375-80. 80. 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. Journal of clinical immunology. 2006;26(6):519-32. 81. 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. Journal of clinical immunology. 2014;34(4):478-90. 82. Abolhassani H, Aghamohammadi A, Abolhassani F, Eftekhar H, Heidarnia M, Rezaei N. 3 Health Policy for Common Variable Immunodeficiency: Burden of the Disease. Journal of Investigational Allergology and Clinical Immunology. 2011;21(6):454. 83. Ghavamzadeh A, Alimoghaddam K, Ghaffari F, Derakhshandeh R, Jalali A, Jahani M. Twenty years of experience on stem cell transplantation in Iran. Iranian Red Crescent Medical Journal. 2013;15(2):93. 84. Hamidieh A, Behfar M, Babaki A, Jalali A, Hosseini A, Jahani M, et al. Hematopoietic SCT in Iranian children 1991–2012. Bone marrow transplantation. 2015;50(4):517-22. 85. Nourijelyani K, Aghamohammadi A, Sadaghiani MS, Behniafard N, Abolhassani H, Pourjabar S, et al. Physicians awareness on primary immunodeficiency disorders in Iran. Iranian Journal of Allergy,Asthma and Immunology.2012; 11(1):57-64. 86. Isaian A, Moin M, Pourpak Z, Rezaei N, Aghamohammadi A, Movahedi M, et al. DNA banking of primary immunodeficiency disorders in Iran. Iranian Journal of Allergy, Asthma and Immunology. 2006;5(4):201-2.