Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

G6PC3 Deficiency: Primary Immune Deficiency Beyond Just Neutropenia.

Journal of pediatric hematology/oncology - 1 Nov 2015

Kiykim Ayca, Baris Safa, Karakoc-Aydiner Elif, Ozen Ahmet O, Ogulur Ismail, Bozkurt Suheyla, Ataizi Cigdem C, Boztug Kaan, Barlan Isil B

Abstract excerpt

Glucose-6-phosphatase catalytic subunit 3 (G6PC3) deficiency was recently defined as a new severe congenital neutropenia subgroup remarkable with congenital heart defects, urogenital malformations, endocrine abnormalities, and prominent superficial veins. Here, we report 3 patients with G6PC3 deficiency presenting with recurrent diarrhea, failure to thrive, and sinopulmonary infections leading to bronchiectasis....

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Bronchiectasis
Share to Colitis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Failure to Thrive

Share to Glucose-6-Phosphatase

Share to Glycogen Storage Disease Type I

Share to Lymphocyte Subsets

Share to Lymphopenia

Share to Neutropenia

Source

Identifiers

PMID: 26479985
DOI: 10.1097/MPH.0000000000000441

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

G6PC3 Deficiency: Primary Immune Deficiency Beyond Just Neutropenia.PMID 26479985Read ↗

A novel G6PC3 gene mutation in severe congenital neutropenia: pancytopenia and variable bone marrow phenotype can also be part of this syndrome.Semantic proximity Read ↗

Inflammatory bowel disease and T cell lymphopenia in G6PC3 deficiency.Semantic proximity Read ↗

A clinical and molecular review of ubiquitous glucose-6-phosphatase deficiency caused by G6PC3 mutations.Semantic proximity Read ↗

Severe Congenital Neutropenia Due To G6PC3 Deficiency Case Series of Five Patients and Literature ReviewSemantic proximity Read ↗

G6PC3 mutations cause non-syndromic severe congenital neutropenia.Semantic proximity Read ↗

A novel G6PC3 gene mutation in a patient with severe congenital neutropenia.Semantic proximity Read ↗

Severe Congenital Neutropenia Type 4: A Rare Disease Harboring a G6pc3 Gene Pathogenic Variant Particular to the Mexican Population.Semantic proximity Read ↗

Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French Severe Congenital Neutropenia Registry.Semantic proximity Read ↗

Novel G6PC3 Mutations in Patients with Congenital Neutropenia: Case Reports and Review of the Literature.Semantic proximity Read ↗

Extended spectrum of human glucose-6-phosphatase catalytic subunit 3 deficiency: novel genotypes and phenotypic variability in severe congenital neutropenia.Semantic proximity Read ↗

Disorders Related to PI3Kδ Hyperactivation: Characterizing the Clinical and Immunological Features of Activated PI3-Kinase Delta SyndromesSemantic proximity Read ↗

Congenital neutropenia: diagnosis, molecular bases and patient management.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.