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, cilt.33, ss.957-961, 2020 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 33 Konu: 7
  • Basım Tarihi: 2020
  • Doi Numarası: 10.1515/jpem-2019-0541
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Sayfa Sayıları: ss.957-961

Özet

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.