Clinical Manifestations, Immunological Characteristics and Genetic Analysis of Patients with Hyper-Immunoglobulin M Syndrome in Iran

Tafakori Delbari, M. and Cheraghi, T. and Yazdani, R. and Fekrvand, S. and Delavari, S. and Azizi, G. and Chavoshzadeh, Z. and Mahdaviani, S.A. and Ahanchian, H. and Khoshkhui, M. and Behmanesh, F. and Aleyasin, S. and Esmaeilzadeh, H. and Jabbari-Azad, F. and Fallahpour, M. and Zamani, M. and Madani, S.P. and Moazzami, B. and Habibi, S. and Rezaei, A. and Lotfalikhani, A. and Movahed, M. and Shariat, M. and Kalantari, A. and Babaei, D. and Darabi, M. and Parvaneh, N. and Rezaei, N. and Abolhassani, H. and Aghamohammadi, A. (2019) Clinical Manifestations, Immunological Characteristics and Genetic Analysis of Patients with Hyper-Immunoglobulin M Syndrome in Iran. International Archives of Allergy and Immunology.

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Background: Hyper-immunoglobulin M (HIGM) syndrome is a rare heterogeneous group of primary immunodeficiency disorders characterized by low or absent serum levels of IgG and IgA along with normal or elevated serum levels of IgM. Methods: Clinical and immunological data were collected from the 75 patients' medical records diagnosed in Children's Medical Center affiliated to Tehran University Medical Sciences and other Universities of Medical Sciences in Iran. Among 75 selected patients, 48 patients (64) were analyzed genetically using targeted and whole-exome sequencing. Results: The ratio of male to female was 2.9:1. The median age at the onset of the disease, time of diagnosis, and diagnostic delay were 10.5, 50, and 24 months, respectively. Pneumonia and lower respiratory tract infections (61.3) were the most common complications. Responsible genes were identified in 35 patients (72.9) out 48 netically analyzed patients. Cluster of differentiation 40 ligand gene was the most mutated gene observed in 24 patients (68.5) followed by activation-induced cytidine deaminase gene in 7 patients, lipopolysaccharide-responsive and beige-like anchor (1 patient), nuclear factor-kappa-B essential modulator (1 patient), phosphoinositide-3-kinase regulatory subunit 1 (1 patient), and nuclear factor kappa B subunit 1 (1 patient) genes. Nineteen (25.3) patients died during the study period, and pneumonia was the major cause of death occurred in 6 (31.6) patients. Conclusion: Physicians in our country should carefully pay attention to respiratory tract infections and pneumonia, particularly in patients with a positive family history. Further investigations are required for detection of new genes and pathways resulting in HIGM phenotype. © 2019 S. Karger AG, Basel. All rights reserved.

Item Type: Article
Additional Information: cited By 0
Subjects: QW Microbiology. Immunology
Depositing User: eprints admin
Date Deposited: 11 Nov 2020 08:38
Last Modified: 11 Nov 2020 08:38

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