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The Spectrum of Inborn Errors of Immunity: A Single Tertiary Center Retrospective Study in Alborz, Iran Publisher Pubmed



Rasouli SE1 ; Tavakol M1, 2 ; Sadri H1, 2 ; Chavoshzadeh Z3 ; Mahdaviani SA4 ; Delavari S5 ; Jamee M6 ; Kalantari A7 ; Alan MS8 ; Aghamahdi F1, 2 ; Abolhassani H5, 9 ; Yazdani R5 ; Rezaei N5, 10 ; Azizi G1, 5
Authors
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Authors Affiliations
  1. 1. Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran
  2. 2. Department of Pediatrics, Imam Ali Hospital, Alborz University of Medical Sciences, Karaj, Iran
  3. 3. Department of Immunology and Allergy, Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  4. 4. Pediatric Respiratory Diseases Research Center, National Research Institute of Tuberculosis and Lung Diseases (NRITLD), Shahid Beheshti University of Medical Sciences, Tehran, Iran
  5. 5. Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Science, Tehran, Iran
  6. 6. Pediatric Nephrology Research Center, Research Institute for Children’s Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  7. 7. Department of Immunology and Allergy, Imam Khomeini Hospital, Tehran University of Medical Sciences, Tehran, Iran
  8. 8. Cardiovascular Research Center, Alborz University of Medical Sciences, Karaj, Iran
  9. 9. Division of Clinical Immunology, Department of Biosciences and Nutrition, Karolinska Institute, Stockholm, Sweden
  10. 10. Primary Immunodeficiency Diseases Network (PIDNet), Universal Scientific Education and Research Network (USERN), Tehran, Iran

Source: European Annals of Allergy and Clinical Immunology Published:2023


Abstract

Background. Inborn errors of immunity (IEIs) are a group of heterogeneous disorders with inherited faults in the immune system that increase susceptibility to infections, malignancies, lymphoproliferation, and autoimmune/autoinflammato-ry disorders. Methods. We retrospectively studied the demographic characteristics, clinical features, and immunological profiles of the 90 IEIs patients, who were diagnosed and classified according to the European Society for Immunodeficiencies (ESID) and International Union of Immunological Societies (IUIS) criteria from July 2010 to June 2021. The study was carried out in the Non-communicable Diseases Research Center, Imam Ali Hospital, Alborz, Iran. Results. Within a period of 11 years, 53 (58.9%) males and 37 (41.1%) females were diagnosed and followed-up for 20 IEI disorders. The median (IQR) age of onset, age of clinical diagnosis and diagnostic delay was 0.7 (0.08-2.0), 3.18 (1.0-8.0) and 1.5 (0.17-5.0) years, respectively. Twelve patients (36.4%) had a positive family his-tory of IEI, and the majority of patients (84.5%) had recurrent infections. Pneumonia (51.7%) was the most common clinical manifestation among IEI patients, followed by skin complications (46.2%). The most frequently diagnosed IEI was immunoglobulin A deficiency (IgAD) (14.4%) and severe combined immunode-ficiency (SCID) (11.1%). Predominantly antibody deficiencies group (36.7%) was the most common category, followed by combined immunodeficiencies with associated or syndromic features group (27.8%). Conclusions. IEIs have different patterns within populations with high consanguinity. There is a need to searching for underlying genetic and epigenetic factors in most common IEIs in Alborz. © 2023 Associazione Allergologi Immunologi Italiani Territoriali e Ospedalieri-AAIITO. Published by EDRA SpA. All rights reserved.
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