Three patients with glucose-6 phosphatase catalytic subunit 3 deficiency

Cetinkaya, Pinar; Cagdas, DENİZ; Arikoglu, Tugba; GÜMRÜK, FATMA; Tezcan, Ilhan

doi:10.1515/jpem-2019-0541

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, sa.7, ss.957-961, 2020 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 33 Sayı: 7
Basım Tarihi: 2020
Doi Numarası: 10.1515/jpem-2019-0541
Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
Sayfa Sayıları: ss.957-961
Anahtar Kelimeler: glucose-6 phosphatase catalytic subunit 3, lymphopenia, myeloid maturation arrest, severe congenital neutropenia, thrombocytopenia, CONGENITAL NEUTROPENIA, G6PC3 DEFICIENCY, PHENOTYPE, MUTATIONS, DEFECT
Hacettepe Üniversitesi Adresli: Evet

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.