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Combined Immunodeficiencies With Associated or Syndromic Features Publisher



Yazdani R1, 2 ; Tavakol M3 ; Vosughi Motlagh A4 ; Shafiei A5 ; Darougar S6 ; Chavoshzadeh Z7 ; Abolhassani H8, 9 ; Lavin M10 ; Ochs HD11
Authors
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Authors Affiliations
  1. 1. Research Center for Immunodeficiencies, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran
  2. 2. Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran
  3. 3. Non-communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran
  4. 4. Department of Allergy & Clinical Immunology, Babol Medical University of Science, Babol, Iran
  5. 5. Department of Immunology, Bahrami Hospital, Tehran University of Medical Sciences, Tehran, Iran
  6. 6. Department of Pediatrics, Tehran Medical Sciences Branch, Islamic Azad University, Tehran, Iran
  7. 7. Department of Immunology and Allergy, Mofid’s Children Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  8. 8. Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute, Stockholm, Sweden
  9. 9. Research Center for Immunodeficiencies, Children’s Medical Center Hospital, Tehran University of Medical Sciences, Tehran, Iran
  10. 10. University of Queensland Centre for Clinical Research (UQCCR), University of Queensland, Herston, Brisbane, QLD, Australia
  11. 11. Center for Immunity and Immunotherapies, Seattle Children's Research Institute, University of Washington, Seattle, WA, United States

Source: Inborn Errors of Immunity: A Practical Guide Published:2021


Abstract

Combined immune deficiencies (CIDs) are a heterogeneous group of inherited immune disorders characterized by impaired development, function, or both of T lymphocytes, with variable B cell defects. Among CIDs, a group of disorders is associated with syndromic features. The term CID syndromes apply to disorders in which other clinical features are present in addition to immunodeficiency. CID with associated or syndromic features comprises nine major categories including congenital thrombocytopenia, DNA repair defects, immunoosseous dysplasias (IODs), thymic defects with additional congenital anomalies, hyper-immunoglobulin E syndromes, dyskeratosis congenital, defects of vitamin B12 and folate metabolism, anhidrotic epidermodysplasia with ID and others. Most patients belonging to this group of primary immunodeficiency disorders manifest severe infections caused by opportunistic organisms, chronic diarrhea, failure to thrive, and recurrent and chronic respiratory infections. These patients present with less severe complications in the first year of life than severe CID patients, as evidence of immunodeficiency may be initially absent, whereas other clinical complications are present. Because syndromic CID can present initially with nonimmunologic manifestation, the various medical specialists involved in these cases should be aware of the signs and symptoms of this PID category. © 2021 Elsevier Inc. All rights reserved.