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



Tafakori Delbari M1 ; Cheraghi T2 ; Yazdani R1 ; Fekrvand S1 ; Delavari S1 ; Azizi G3 ; Chavoshzadeh Z4 ; Mahdaviani SA5 ; Ahanchian H6 ; Khoshkhui M6 ; Behmanesh F6 ; Aleyasin S7 ; Esmaeilzadeh H7 ; Jabbariazad F6 Show All Authors
Authors
  1. Tafakori Delbari M1
  2. Cheraghi T2
  3. Yazdani R1
  4. Fekrvand S1
  5. Delavari S1
  6. Azizi G3
  7. Chavoshzadeh Z4
  8. Mahdaviani SA5
  9. Ahanchian H6
  10. Khoshkhui M6
  11. Behmanesh F6
  12. Aleyasin S7
  13. Esmaeilzadeh H7
  14. Jabbariazad F6
  15. Fallahpour M8
  16. Zamani M9
  17. Madani SP1
  18. Moazzami B1
  19. Habibi S1
  20. Rezaei A1
  21. Lotfalikhani A1
  22. Movahed M10
  23. Shariat M11
  24. Kalantari A12
  25. Aghamohammadi A1
  26. Darabi M1, 4
  27. Parvaneh N1
  28. Rezaei N1
  29. Abolhassani H13

Source: International Archives of Allergy and Immunology Published:2019


Abstract

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 genetically 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. Copyright: All rights reserved.
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