Three patients with glucose-6 phosphatase catalytic subunit 3 deficiency


Cetinkaya P. G. , Cagdas D. N. , Arikoglu T., GÜMRÜK F., Tezcan I.

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.33, no.7, pp.957-961, 2020 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 33 Issue: 7
  • Publication Date: 2020
  • Doi Number: 10.1515/jpem-2019-0541
  • Journal Name: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Journal Indexes: Science Citation Index Expanded, Scopus, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
  • Page Numbers: pp.957-961
  • Keywords: glucose-6 phosphatase catalytic subunit 3, lymphopenia, myeloid maturation arrest, severe congenital neutropenia, thrombocytopenia, CONGENITAL NEUTROPENIA, G6PC3 DEFICIENCY, PHENOTYPE, MUTATIONS, DEFECT

Abstract

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.