JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.33, no.7, pp.957-961, 2020 (Peer-Reviewed Journal)
Article / Article
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
Science Citation Index Expanded, Scopus, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
glucose-6 phosphatase catalytic subunit 3, lymphopenia, myeloid maturation arrest, severe congenital neutropenia, thrombocytopenia, CONGENITAL NEUTROPENIA, G6PC3 DEFICIENCY, PHENOTYPE, MUTATIONS, DEFECT
Objectives: Severe congenital neutropenia (SCN) is a primary immunodeficiency (PID) characterized by persistent severe neutropenia, recurrent infections, and oral aphthous lesions. Severe congenital neutropenia is caused by various genetic defects such as ELANE, GFI, HAX-1, JAGN1, SRP54, and glucose-6 phosphatase catalytic subunit 3 (G6PC3) deficiency. Clinical features of the patients with G6PC3 deficiency vary from neutropenia to several systemic features in addition to developmental delay.