Research Center For Immunodeficiencies
Immunology and Genetics Journal
2645-4831
3
2
2020
08
01
Common Variable Immunodeficiency (CVID) and Autoimmunity
12
28
EN
Mojde
Soltani
Department of Immunology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
soltani@gmail.com
Mahnaz
Rezaei
Department of Immunology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
rezaei@gmail.com
Mazdak
Ganjalikhani Hakemi
Department of Immunology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
ganjalikhani@gmail.com
10.22034/igj.2020.242636.1044
Autoimmunity is observed by almost one-third of patients with CVID. Different mechanisms including genetic defects and dysregulation of innate and adaptive immunity leads to autoimmunity in these patients CVID. The clinical phenotypes of autoimmunity in CVID patients comprise fall in a wide spectrum, from organ-specific autoimmunity to systemic complications. The most common autoimmunity is autoimmune cytopenia in CVID patients. In this article, we have provided a collection of the most significant and recent information about prevalence, genetics, pathogenesis and clinical manifestations of autoimmunity in CVID patients, and provided an overview on its management and future perspective.
Common variable immunodeficiency,autoimmunity,autoimmune cytopenia,adaptive immunity
http://www.igjournal.ir/article_111510.html
http://www.igjournal.ir/article_111510_1ecb8ee6b321e8615248ee68222a940d.pdf
Research Center For Immunodeficiencies
Immunology and Genetics Journal
2645-4831
3
2
2020
08
01
Autoimmunity Complications in Common Variable Immunodeficiency Patients; an update from the Iranian registry
29
38
EN
Fateme
Babaha
0000-0002-9821-4001
Department of Immunology, faculty of medical sciences, Tarbiat Modares University
fbabaha@gmail.com
10.22034/igj.2020.227556.1038
Introduction: Common Variable Immunodeficiency (CVID) is the most prevalent symptomatic primary immunodeficiency (PID) characterized by heterozygous manifestations, including infectious and non-infectious complications. The hallmark of disease is the development of recurrent sinopulmonary infections; however, different types of autoimmunity are frequently reported in CVID subjects. In this study, we aimed to provide an update report on various autoimmunity manifestations in a group of CVID patients in Iran. <br />Methods: Demographic, clinical and immunologic data of Iranian CVID cases who were followed up at children’s medical center were collected. Based on the presence of autoimmunity, patients were divided into two groups of autoimmunity and non-autoimmunity for further analyses. <br />Results: Among 301 CVID cases enrolled, 81 (26.9%) had autoimmunity which was mostly manifested as autoimmune cytopenia; 21 (24%) out of 81 individuals had immune thrombocytopenic purpura (ITP) and 14 (17.3%) patients showed autoimmune hemolytic anemia (AIHA). Rheumatologic autoimmune disorders like Juvenile Idiopathic Arthritis (JIA) and Juvenile Rheumatoid Arthritis (JRA) were observed in 7 (8.6%) and 5 (6.2%) individuals, respectively. Also, Inflammatory bowel disease 6 (7.4%) and vitiligo 7 (8.6%) were the most observed gastrointestinal and dermatologic autoimmune disorders in this study. Some of these conditions were concomitant in a single individual. Additionally, significant correlations were observed between autoimmunity and other complications including sinusitis (P=0.04), Bronchiectasis (P=0.002), Chronic diarrhea (P=0.000) and thrombocytopenia (P=0.000).<br />Conclusion: Autoimmunity and its association with other clinical manifestations should be paid more attention in CVID patients.
Autoimmune complications,Common variable immunodeficiency,Primary immunodeficiency,immune thrombocytopenic purpura
http://www.igjournal.ir/article_111454.html
http://www.igjournal.ir/article_111454_d26fec7c259b2aa37076105e2d3d60ca.pdf
Research Center For Immunodeficiencies
Immunology and Genetics Journal
2645-4831
3
2
2020
08
01
A New Missense Mutation in FANCA Gene Detected by Whole Exome Sequencing in a Case with Fanconi Anemia (a case report)
39
45
EN
Zahra
Ataei
Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical
Sciences, Tehran, Iran
zahra.ataie91@gmail.com
Farzad
Nazari
Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical
Sciences, Tehran, Iran
farzadnazari91@gmail.com
10.22034/igj.2020.234109.1040
Fanconi Anemia (FA) is a rare genetic disease with a mutation in any of 22 FANC genes were known to date. Among all of FANC genes, most frequent mutation has been reported in FANCA gene worldwide responsible for about 60- 65% of all cases. In this case, we present a new missense mutation in FANCA gene in the Iranian population.
Fanconi anemia,FANCA,lung infection,pancytopenia
http://www.igjournal.ir/article_111512.html
http://www.igjournal.ir/article_111512_d541dceb48457d9fbf1b7f1ef493aeba.pdf
Research Center For Immunodeficiencies
Immunology and Genetics Journal
2645-4831
3
2
2020
08
05
Atrophic Thymus in the First Case of the Interleukin 10 Receptor Beta Deficiency due to the Homozygous Large Deletion
46
50
EN
Mahnaz
Sadeghi Shabestari
Immunology research center of Tabriz, TB and lung research center of Tabriz, children hospital, Tabriz University of medical science, Tabriz, Iran
drsadeghim2004@yahoo.com
Fereshte
Salami
0000-0002-4641-3040
Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children&#039;s Medical Center, Tehran University of Medical Science, Tehran, Iran
freshtesalami@gmail.com
Mohammad
Shahrooei
Department of Microbiology and Immunology, Clinical and Diagnostic Immunology, KU Leuven, Leuven, Belgium
sharoeim@gmail.com
Yousef
Tavakolifar
Pediatric Health Research Center, Tabriz University of Medical Sciences, Tabriz, Iran
tavakolifar@gmail.com
10.22034/igj.2020.242617.1043
Interleukin 10 (IL-10) and IL-10 receptor (IL-10R) deficiencies are among the primary immunodeficiency disorders (PIDs) caused by the loss-of-function mutations in the IL-10 or IL-10R encoding genes. IL-10 and IL-10R deficiencies are not prevalent and only a few cases have been reported in this regard so far. Among the patients, very early onset of the inflammatory bowel disease (VEO-IBD), usually during the infancy is the most common clinical manifestation of the disease. Almost all the patients come from the consanguineous families and present a similarly severe state of the disease. Therefore, in this study, the case of a 7-month-old girl, admitted with severe dehydration due to the watery diarrhea, fever, and repeated hospitalization with atrophic thymus was reported. According to the patients҆ past medical history, she came from a family with consanguineous marriage, and her sister also had died from the chronic diarrhea. She was nominated for the genetic examination to identify the underlying causes of her disease because of the normal laboratory analysis and standard immunological workup. Genetic evaluation by the whole exome sequencing revealed a homozygous mutation in the gene encoding the IL-10RB with a large deletion in the exons 3-7. Unfortunately, she deceased at the age of one before the hematopoietic stem cell transplantation.
IL-10R deficiency,VEO-IBD,Pediatrics,Chronic diarrhea
http://www.igjournal.ir/article_111455.html
http://www.igjournal.ir/article_111455_a10bcfb693c01fa460c0ccc12d8d9ecc.pdf
Research Center For Immunodeficiencies
Immunology and Genetics Journal
2645-4831
3
2
2020
08
01
A Griscelli Syndrome, with Retropharyngeal Abscess, as First Clinical
51
55
EN
Shiva
Shadani
Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran
shiva_shadani@yahoo.com
Molood
Safarirad
0000-0002-2125-9789
Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran
dr.safarirad@yahoo.com
Reyhaneh
Ramezanzadeh
Department of Pathology, North Khorasan University of Medical Sciences, Bojnurd, Iran
dr.ramezanzade@yahoo.com
Koroush
Yousefi
Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran
koroushyousefi@yahoo.com
Ahmad
Vosughi Motlagh
0000-0001-9247-9757
Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran
dr.ahmadvosughi@yahoo.com
10.22034/igj.2020.235072.1041
Griscelli syndrome is a rare autosomal recessive disorder characterized by albinism with immunodeficiency, which usually causes death by early childhood. This syndrome is a primary immune defects that presents with a dilution of pigmentations of the skin and hair, recurrent pulmonary and skin infections, neurologic disorders, hypogammaglobulinemia, and variable cellular immunodeficiency. In different phenotypes of the syndrome, three mutations have been mentioned. In most of them, GS leads to death in the first decade of life. Herein, we report a one-year-old male child with an upper respiratory infection and retropharyngeal abscess as first clinical manifestation.
Grisel’s Syndrome,albinism,immunodeficiency,hypogammaglobulinemia
http://www.igjournal.ir/article_111513.html
http://www.igjournal.ir/article_111513_0ef10b620aa8a0a689ba7133ac6ad112.pdf