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Demographic, Clinical, Immunological, and Molecular Features of Iranian National Cohort of Patients With Defect in Dclre1c Gene Publisher



Ghadimi S1 ; Jamee M2, 3 ; Abolhassani H4, 5 ; Parvaneh N4 ; Rezaei N4 ; Delavari S4 ; Sadeghishabestari M6 ; Tabatabaei SR7 ; Fahimzad A7 ; Armin S7 ; Chavoshzadeh Z3 ; Sharafian S3
Authors
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Authors Affiliations
  1. 1. School of Medicine, Azad University of Medical Sciences, Tehran, Iran
  2. 2. Pediatric Nephrology Research Center, Research Institute for Children’s Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  3. 3. Immunology and Allergy Department, Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran
  4. 4. Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran
  5. 5. Division of Clinical Immunology, Department of Biosciences and Nutrition, Karolinska Institutet, Karolinska University Hospital, Huddinge, Stockholm, Sweden
  6. 6. Department of Immunology and Allergy, Tabriz University of Medical Sciences, Tabriz, Iran
  7. 7. Pediatric Infections Research Center, Research Institute for Children’s Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran

Source: Allergy# Asthma and Clinical Immunology Published:2023


Abstract

Background: DCLRE1C gene mutation leads to Artemis deficiency, a severe form of combined immunodeficiency (SCID). Impaired DNA repair and block in early adaptive immunity maturation results in T-B-NK+ immunodeficiency associated with radiosensitivity. Recurrent infections early in life are the main characteristic of Artemis patients. Method: Among 5373 registered patients, 9 Iranian patients (33.3% female) with confirmed DCLRE1C mutation were identified since 1999–2022. The demographic, clinical, immunological and genetic features were collected through retrospective investigation of medical records and using next generation sequencing. Results: Seven patients were born in a consanguineous family (77.8%). The median age of onset was 6.0 (5.0–17.0) months. Severe combined immunodeficiency (SCID) was clinically detected at a median (IQR) age of 7.0 (6.0–20.5) months, following a median diagnostic delay of 2.0 (1.0–3.5) months The most typical first presentation was pneumonia (44.4%) and otitis media (3.33%), followed by BCG lymphadenitis (22.2%) and gastroenteritis (11.1%). The most prevalent manifestations were respiratory tract infections (including otitis media) (66.6%) and chronic diarrhea (66.6%). In addition, juvenile idiopathic arthritis (P5) and celiac disease and idiopathic thrombocytopenic purpura (P9) as autoimmune disorders were reported in 2 patients. All patients had reduced B CD19+ and CD4+ cell counts. IgA deficiency occurred in 77.8% of individuals. Conclusion: Recurrent infections particulary respiratory tract infection and chronic diarrhea during the first months of life in patients born to consanguineous parents should raise the suspicion for inborn errors of immunity, even in the presence of normal growth and development. © 2023, The Author(s).
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