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- Title
Demographic, clinical, immunological, and molecular features of iranian national cohort of patients with defect in DCLRE1C gene.
- Authors
Ghadimi, Soodeh; Jamee, Mahnaz; Abolhassani, Hassan; Parvaneh, Nima; Rezaei, Nima; Delavari, Samaneh; Sadeghi-Shabestari, Mahnaz; Tabatabaei, Sedigheh Rafiei; Fahimzad, Alireza; Armin, Shahnaz; Chavoshzadeh, Zahra; Sharafian, Samin
- 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.
- Subjects
SEVERE combined immunodeficiency; NUCLEOTIDE sequencing; IDIOPATHIC thrombocytopenic purpura; JUVENILE idiopathic arthritis; RESPIRATORY infections; CELIAC disease; RECESSIVE genes
- Publication
Allergy, Asthma & Clinical Immunology, 2023, Vol 19, Issue 1, p1
- ISSN
1710-1484
- Publication type
Article
- DOI
10.1186/s13223-023-00768-5