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
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...
February 21, 2023: Allergy, Asthma, and Clinical Immunology