Demographic, clinical, immunological, and molecular features of iranian national cohort of patients with defect in DCLRE1C gene

Allergy, Asthma & Clinical Immunology

Research

Mahnaz Sadeghi-Shabestari¹  Zahra Chavoshzadeh²  Samin Sharafian²  Shahnaz Armin³  Alireza Fahimzad³  Sedigheh Rafiei Tabatabaei³  Mahnaz Jamee⁴  Nima Parvaneh⁵  Samaneh Delavari⁵  Nima Rezaei⁵  Hassan Abolhassani⁶  Soodeh Ghadimi⁷ 

[1] Department of Immunology and Allergy, Tabriz University of Medical Sciences, Tabriz, Iran;Immunology and Allergy Department, Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran;Pediatric Infections Research Center, Research Institute for Children’s Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran;Pediatric Nephrology Research Center, Research Institute for Children’s Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran;Immunology and Allergy Department, Mofid Children’s Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran;Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran;Research Center for Immunodeficiencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran;Division of Clinical Immunology, Department of Biosciences and Nutrition, Karolinska Institutet, Karolinska University Hospital, Huddinge, Stockholm, Sweden;School of Medicine, Azad University of Medical Sciences, Tehran, Iran;

关键词: Inborn errors of immunity;    Primary immunodeficiency;    Severe combined immunodeficiency;    Artemis;    DCLRE1C;    HSCT;   

DOI  :  10.1186/s13223-023-00768-5

 received in 2022-10-11, accepted in 2023-02-05,  发布年份 2023

来源: Springer

【 摘 要 】

BackgroundDCLRE1C 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.MethodAmong 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.ResultsSeven 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.ConclusionRecurrent 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.

【 授权许可】

CC BY   
© The Author(s) 2023

【 图 表 】

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