Tehran University of Medical Sciences

Science Communicator Platform

Stay connected! Follow us on X network (Twitter):
Share this content! On (X network) By
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
Show Affiliations
Authors Affiliations
  1. 1. Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Science, 62 Qarib Street, Keshavarz Boulevard, Tehran, 14194, Iran
  2. 2. Department of Pediatrics, 17th Shahrivar Children's Hospital, Guilan University of Medical Sciences, Rasht, Iran
  3. 3. Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran
  4. 4. Pediatric Infections Research Center, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  5. 5. Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  6. 6. Allergy Research Center, Mashhad University of Medical Sciences, Mashhad, Iran
  7. 7. Allergy Research Center, Shiraz University of Medical Sciences, Shiraz, Iran
  8. 8. Department of Allergy and Clinical Immunology, Rasool e Akram Hospital, Iran University of Medical Sciences, Tehran, Iran
  9. 9. Department of Immunology and Allergy, Shahrekord University of Medical Sciences, Shahrekord, Iran
  10. 10. Division of Allergy and Clinical Immunology, Department of Pediatrics, Pediatrics Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
  11. 11. Department of Allergy and Clinical Immunology, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
  12. 12. Department of Allergy and Clinical Immunology, Imam Khomeini Hospital, Tehran University of Medical Sciences, Tehran, Iran
  13. 13. Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute at Karolinska University Hospital Huddinge, Stockholm, Sweden

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.
Related Docs
View other Related Docs
1. The Hyper Igm Syndromes: Epidemiology, Pathogenesis, Clinical Manifestations, Diagnosis and Management, Clinical Immunology (2019)
2. Respiratory Complications in Patients With Hyper Igm Syndrome, Journal of Clinical Immunology (2019)
3. Comparison of Common Monogenic Defects in a Large Predominantly Antibody Deficiency Cohort, Journal of Allergy and Clinical Immunology: In Practice (2019)
4. Long-Term Outcomes of 176 Patients With X-Linked Hyper-Igm Syndrome Treated With or Without Hematopoietic Cell Transplantation, Journal of Allergy and Clinical Immunology (2017)
5. Evaluation of Radiation Sensitivity in Patients With Hyper Igm Syndrome, Immunological Investigations (2020)
6. Genetic Analysis of Patients With Two Different Types of Hyper Igm Syndrome, Immunological Investigations (2018)
7. Novel Aicda Mutation in a Case of Autosomal Recessive Hyper-Igm Syndrome, Growth Hormone Deficiency and Autoimmunity, Allergologia et Immunopathologia (2017)
8. Cancer Trends in Inborn Errors of Immunity: A Systematic Review and Meta-Analysis, Journal of Clinical Immunology (2025)
Experts (# of related papers)
View all Related Experts
Nima Rezaei (35)
Gholamreza Hassanpour (10)
Other Related Docs
9. Known and Potential Molecules Associated With Altered B Cell Development Leading to Predominantly Antibody Deficiencies, Pediatric Allergy and Immunology (2021)
10. Novel Cd40lg Mutation in Two Cousins With Immunoglobulin Class Switch Recombinant Deficiency, Acta Medica Iranica (2019)
11. Autoimmunity in Primary T-Cell Immunodeficiencies, Expert Review of Clinical Immunology (2016)
12. Autoimmunity in Primary Antibody Deficiencies, International Archives of Allergy and Immunology (2017)
13. Genetic Risk Variants for Class Switching Recombination Defects in Ataxia-Telangiectasia Patients, Journal of Clinical Immunology (2022)
14. The Spectrum of Atm Gene Mutations in Iranian Patients With Ataxia-Telangiectasia, Pediatric Allergy and Immunology (2021)
15. Inherited and Acquired Immunodeficiencies Underlying Tuberculosis in Childhood, Immunological Reviews (2015)
16. Effect of Class Switch Recombination Defect on the Phenotype of Ataxia-Telangiectasia Patients, Immunological Investigations (2021)
17. Clinical Heterogeneity in Families With Multiple Cases of Inborn Errors of Immunity, Clinical Immunology (2024)
18. Fourth Update on the Iranian National Registry of Primary Immunodeficiencies: Integration of Molecular Diagnosis, Journal of Clinical Immunology (2018)
19. Clinical, Immunologic, and Genetic Spectrum of 696 Patients With Combined Immunodeficiency, Journal of Allergy and Clinical Immunology (2018)
20. Monogenic Primary Immunodeficiency Disorder Associated With Common Variable Immunodeficiency and Autoimmunity, International Archives of Allergy and Immunology (2020)
21. Comprehensive Assessment of Skin Disorders in Patients With Common Variable Immunodeficiency (Cvid), Journal of Clinical Immunology (2022)
22. Primary Immunodeficiency Diseases in Iran: Past, Present and Future, Archives of Iranian Medicine (2021)
23. Evaluation of Microrna-125B-5P and Transcription Factors Blimp1 and Irf4 Expression in Unsolved Common Variable Immunodeficiency Patients, Iranian Journal of Allergy# Asthma and Immunology (2021)
24. Primary Immunodeficiency Diseases and Bacillus Calmette-Guerin (Bcg)-Vaccine–Derived Complications: A Systematic Review, Journal of Allergy and Clinical Immunology: In Practice (2020)
25. Lymphocytic Interstitial Pneumonitis: An Unusual Presentation of X-Linked Hyper Ig M Syndrome, Iranian Journal of Pediatrics (2016)
26. The First Cohort of Iranian Patients With Hyper Immunoglobulin E Syndrome: A Long-Term Follow-Up and Genetic Analysis, Pediatric Allergy and Immunology (2019)
27. Targeted Next-Generation Sequencing for Genetic Diagnosis of 160 Patients With Primary Immunodeficiency in South China, Pediatric Allergy and Immunology (2018)
28. Evaluation of Respiratory Complications in Patients With X-Linked and Autosomal Recessive Agammaglobulinemia, Pediatric Allergy and Immunology (2020)
29. Class Switch Recombination Process in Ataxia Telangiectasia Patients With Elevated Serum Levels of Igm, Journal of Immunoassay and Immunochemistry (2015)
30. Atypical Ataxia Presentation in Variant Ataxia Telangiectasia: Iranian Case-Series and Review of the Literature, Frontiers in Immunology (2022)
31. Immunophenotypic and Functional Analysis of Lymphocyte Subsets in Common Variable Immunodeficiency Patients Without Monogenic Defects, Scandinavian Journal of Immunology (2022)
32. Primary Antibody Deficiency in a Tertiary Referral Hospital: A 30-Year Experiment, Journal of Investigational Allergology and Clinical Immunology (2015)
33. Hallmarks of Cancers: Primary Antibody Deficiency Versus Other Inborn Errors of Immunity, Frontiers in Immunology (2021)
34. Vaccine-Derived Poliovirus Infection Among Patients With Primary Immunodeficiency and Effect of Patient Screening on Disease Outcomes, Iran, Emerging Infectious Diseases (2019)
35. Congenital Neutropenia and Primary Immunodeficiency Diseases, Critical Reviews in Oncology/Hematology (2019)
36. Diagnostic Approach to the Patients With Suspected Primary Immunodeficiency, Endocrine# Metabolic and Immune Disorders - Drug Targets (2020)
37. X-Linked Tlr7 Deficiency Underlies Critical Covid-19 Pneumonia in a Male Patient With Ataxia-Telangiectasia, Journal of Clinical Immunology (2022)
38. The Autoimmune Manifestations in Patients With Genetic Defects in the B Cell Development and Differentiation Stages, Journal of Clinical Immunology (2023)
39. Autoimmune Disorders Associated With Common Variable Immunodeficiency: Prediction, Diagnosis, and Treatment, Expert Review of Clinical Immunology (2022)
40. Transcriptional Regulation of B Cell Class-Switch Recombination: The Role in Development of Noninfectious Complications, Expert Review of Clinical Immunology (2022)
41. Ataxia-Telangiectasia: Epidemiology, Pathogenesis, Clinical Phenotype, Diagnosis, Prognosis and Management, Expert Review of Clinical Immunology (2020)
42. Inherited Ifnar1 Deficiency in a Child With Both Critical Covid-19 Pneumonia and Multisystem Inflammatory Syndrome, Journal of Clinical Immunology (2022)
43. How Do Nuclear Factor Kappa B (Nf-Κb)1 and Nf-Κb2 Defects Lead to the Incidence of Clinical and Immunological Manifestations of Inborn Errors of Immunity?, Expert Review of Clinical Immunology (2023)
44. Lymphocytes Subsets in Correlation With Clinical Profile in Cvid Patients Without Monogenic Defects, Expert Review of Clinical Immunology (2021)
45. Adenoid Hyperplasia in a Patient With a Rare Type of Hyper Immunoglobulin M Syndrome Due to Cd40 Deficiency, Acta Medica Iranica (2018)
46. Evaluation of Pulmonary Complications in Patients With Primary Immunodeficiency Disorders, European Annals of Allergy and Clinical Immunology (2017)
47. Immunodeficiencies, Clinical Immunology (2022)
48. Autoimmune Versus Non-Autoimmune Cutaneous Features in Monogenic Patients With Inborn Errors of Immunity, Biology (2023)
49. Evaluation of Patients With Primary Immunodeficiency Associated With Bacille Calmette-Guerin (Bcg)-Vaccine-Derived Complications, Allergologia et Immunopathologia (2020)
50. Comparison of Clinical and Immunological Features and Mortality in Common Variable Immunodeficiency and Agammaglobulinemia Patients, Immunology Letters (2019)