Research Center For ImmunodeficienciesImmunology and Genetics Journal2645-48311Issue 220181201Predominantly Antibody Deficiencies52808025310.22034/igj.2018.80253ENGholamreza AziziNon-Communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran0000-0001-5658-2511Reza YazdaniResearch Center for Immunodeficiencies, Pediatrics Center of Excellence, Children Medical Center, Tehran University of Medical Sciences, Tehran, Iran0000-0002-5578-6595Journal Article20181208<strong>Abstract</strong><br /> Primary antibody deficiencies (PADs) are frequent primary immunodeficiencies in humans, characterized by hypogammaglobulinemia, defects in production of specific antibodies, and recurrent infections. Information about PADs is quickly developing, leading to improved diagnoses and efficient disease management. This study is a review of the pathogenesis, diagnosis, clinical manifestations, and management of PAD disorders such as agammaglobulinemia, common variable immunodeficiency, monogenic defects associated with hypogammaglobulinemia, class switch recombination deficiencies, selective IgA deficiency, subclass immunoglobulin isotypes deficiencies, specific antibody deficiency, and transient hypogammaglobulinemia.<strong> </strong>http://www.igjournal.ir/article_80253_579361b62e5a557e63e075d20cd00cb5.pdfResearch Center For ImmunodeficienciesImmunology and Genetics Journal2645-48311Issue 220181201Multiple Types of Autoimmunity Resulting from the same CD40 Ligand Mutation81928029710.22034/igj.2018.80297ENSharareh DehghaniResearch Center for Immunodeficiencies, Pediatrics Center of Excellence, Children Medical Center, Tehran University of Medical Science, Tehran, IranJournal Article20181203Abstract:<br /> Background/Objectives: Hyper-immunoglobulin M (HIgM) syndrome is a primary immunodeficiency disease in which impaired immunoglobulin class-switch recombination causes normal or high levels of serum IgM versus low or undetectable serum levels of class-switched immunoglobulins. <br /> Methods: The diagnoses of all patients with HIgM in familial cases were evaluated based on genetic testing. Since this syndrome can present with either infectious diseases, malignancies, or autoimmune diseases, all medical complications were recorded in the index patients and relatives. <br /> Results: Surprisingly, the evaluation identified a family with 3 males suffering from CD40 ligand deficiency, and each one had different autoimmune manifestations, including Guillain-barre syndrome and pauciarticular and polyarticular juvenile rheumatoid arthritis. <br /> Conclusions: Based on the results, it is hypothesized that other genetic modifying factors or environmental parameters affecting epigenetics may have a significant role in the presentation of autoimmunity in CD40 ligand deficiency.http://www.igjournal.ir/article_80297_fdb3cfbda3da41880ad198d5cff6bcca.pdfResearch Center For ImmunodeficienciesImmunology and Genetics Journal2645-48311Issue 220181201Gastrointestinal manifestations of Iranian patients with LRBA deficiency931028025210.22034/igj.2018.80252ENJavad TafarojiDepartment of Pediatrics, Qom University of Medical Sciences, Qom, IranFereshteh SalamiDepartment of Immunology, Yazd University of Medical Sciences, Yazd, Iran0000-0002-4641-3040Seyed Alireza MahdavianiPediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, IranAfshin ShirkaniAllergy and Clinical Immunology Department, Bushehr
University of Medical Science, School of Medicine, Bushehr, IranZahra ChavoshzadehDepartment of Allergy and Clinical Immunology, Mofid Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.Journal Article20181210Abstract<br /> Background: Lipopolysaccharide-responsive beige-like anchor protein (LRBA) deficiency is a rare genetic primary immunodeficiency (PID) disease caused by mutation in the LRBA gene. The most important symptoms in patients include autoimmunity, recurrent infections, hypogammaglobulinemia, and enteropathy. <br /> Methods: A total of 19 LRBA patients were enrolled in this longitudinal study. All recorded data for clinical presentation, demographic information, laboratory and gastrointestinal findings were collected.<br /> Results: In this study, 11 females and 8 males (from 16 unrelated families) with LRBA deficiency were evaluated. The most common gastrointestinal symptoms were gastroenteritis, chronic or bloody diarrhea with abdominal pain, vomiting, anorexia, and FTT. The most important pathologic finding was colitis that was seen in 4 patients. Gastritis, esophagitis, gastroesophageal reflux disease, celiac-like disease, and normal upper endoscopy were documented equally in 2 patients. Also seen was enteritis in 3, proctitis, ileitis, and cryptitis in 1, and villous atrophy in 3 of the LRBA patients.<br /> Conclusion: A variety of gastrointestinal conditions may be the most frequent complications in patients with LRBA deficiency.http://www.igjournal.ir/article_80252_b977800df6ca5a55f92f169707902024.pdfResearch Center For ImmunodeficienciesImmunology and Genetics Journal2645-48311Issue 220181201Efficacy of Ganciclovir on CMV Retinitis Complication of Common Variable Immunodeficiency1031078025410.22034/igj.2018.80254ENAbbas KhaliliDepartment of Pediatrics, Shahid Sadoughi University of Medical Sciences, Yazd, Iran.Journal Article20181203Common variable immunodeficiency (CVID) is a heterogeneous disease with different clinical phenotypes that is characterized by hypogammaglobulinemia, abnormal antibody response, and susceptibility to bacterial infections as well as severe viral infections and autoimmunity. Here we report a case of CVID with autoimmune hemolytic anemia presenting with blurred vision and cytomegalovirus retinitis which improved after treatment with ganciclovir.http://www.igjournal.ir/article_80254_5e2ba072fd9b68c209198e196f506c4a.pdf