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

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

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 t...

Full description

Bibliographic Details
Main Authors: Soodeh Ghadimi, Mahnaz Jamee, Hassan Abolhassani, Nima Parvaneh, Nima Rezaei, Samaneh Delavari, Mahnaz Sadeghi-Shabestari, Sedigheh Rafiei Tabatabaei, Alireza Fahimzad, Shahnaz Armin, Zahra Chavoshzadeh, Samin Sharafian
Format: Article
Language:English
Published: BMC 2023-02-01
Series:Allergy, Asthma & Clinical Immunology
Subjects:
Inborn errors of immunity
Primary immunodeficiency
Severe combined immunodeficiency
Artemis
DCLRE1C
HSCT
Online Access:https://doi.org/10.1186/s13223-023-00768-5

Internet

https://doi.org/10.1186/s13223-023-00768-5

Similar Items