2024-03-28T18:54:49Z
http://www.igjournal.ir/?_action=export&rf=summon&issue=15270
Immunology and Genetics Journal
IGJ
2020
3
2
Past and Future of J Project Meetings in Turkey: Evaluation of Last 10 Years
ismail
reisli
Sevgi
Keles
Ahmet
Calıskaner
J Project is a physician education and clinical research collaboration program which established in ECE countries in 2004. This project aims to increase awareness of primary PID and improve the diagnosis and treatment of the patients worldwide, especially in countries with limited diagnostic laboratories. Turkey joined with the J Project in 2009 and organized 25 J Project events. The first part of J Project was planned as J Anatolia Meetings in Konya and around. Because the immunology centers were mainly located in West Turkey, we have just started to organize J Project Meetings in East Turkey where the consanguinity ratio is very high (40%). The second part of the J project were called as East Anatolia J Project. Besides these J Project Meetings, three J Project Congresses were organized in Turkey in 2014, 2016, and 2019. Following the J Project meetings in Konya and around, diagnostic delay ratio decreased to 2 months from 10 months in the last 10 years. In the same period, the mean age of diagnosis reduced to 4 months, the ratio of bone marrow transplantion for SCID patients increased from 28 % to 58 % and the survival rate increased from 20 % to 50 %. As a result, ratio of PID especially autosomal recessive ones are higher than literatüre in Turkey. Increased ratio of PIDs shows need to organize more J Project meetings in our country to increase knowledge of physicians on PIDs and increase collaboration between European and non-European countries for early diagnosis of PIDs. We believe that Turkish J Project meetings are valuable and important education program for Turkish physicians with its unique approach.
J Project
Primary immunodeficiency
Consanguinity
Turkish experience
2020
08
01
8
11
http://www.igjournal.ir/article_111511_f2639e52a0f7931c2b0f5de35613be1d.pdf
Immunology and Genetics Journal
IGJ
2020
3
2
Common Variable Immunodeficiency (CVID) and Autoimmunity
Mojde
Soltani
Mahnaz
Rezaei
Mazdak
Ganjalikhani Hakemi
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
2020
08
01
12
28
http://www.igjournal.ir/article_111510_1ecb8ee6b321e8615248ee68222a940d.pdf
Immunology and Genetics Journal
IGJ
2020
3
2
Autoimmunity Complications in Common Variable Immunodeficiency Patients; an update from the Iranian registry
Fateme
Babaha
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. 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. 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).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
2020
08
01
29
38
http://www.igjournal.ir/article_111454_d26fec7c259b2aa37076105e2d3d60ca.pdf
Immunology and Genetics Journal
IGJ
2020
3
2
A New Missense Mutation in FANCA Gene Detected by Whole Exome Sequencing in a Case with Fanconi Anemia (a case report)
Zahra
Ataei
Farzad
Nazari
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
2020
08
01
39
45
http://www.igjournal.ir/article_111512_d541dceb48457d9fbf1b7f1ef493aeba.pdf
Immunology and Genetics Journal
IGJ
2020
3
2
Atrophic Thymus in the First Case of the Interleukin 10 Receptor Beta Deficiency due to the Homozygous Large Deletion
Mahnaz
Sadeghi Shabestari
Fereshte
Salami
Mohammad
Shahrooei
Yousef
Tavakolifar
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
2020
08
05
46
50
http://www.igjournal.ir/article_111455_a10bcfb693c01fa460c0ccc12d8d9ecc.pdf
Immunology and Genetics Journal
IGJ
2020
3
2
A Griscelli Syndrome, with Retropharyngeal Abscess, as First Clinical
Shiva
Shadani
Molood
Safarirad
Reyhaneh
Ramezanzadeh
Koroush
Yousefi
Ahmad
Vosughi Motlagh
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
2020
08
01
51
55
http://www.igjournal.ir/article_111513_0ef10b620aa8a0a689ba7133ac6ad112.pdf