Article

Severe Congenital Neutropenia Due To G6PC3 Deficiency Case Series of Five Patients and Literature Review

2021-07-07

Abstract excerpt

Glucose-6-phosphate catalytic subunit 3 (G6PC3) deficiency is characterized by severe congenital neutropenia with recurrent pyogenic infections, a prominent superficial venous pattern, and cardiovascular and urogenital malformations, caused by an alteration of glucose homeostasis, with increased endoplasmic reticulum stress and cell apoptosis. We describe five new cases from Mexico, and review 89 more patients rep...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 624a2515-46f3-575f-9814-17196b7801bc
DOI: 10.21203/rs.3.rs-356870/v2

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Severe Congenital Neutropenia Due To G6PC3 Deficiency Case Series of Five Patients and Literature ReviewDOI 10.21203/rs.3.rs-356870/v2Read

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

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

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

A Severe Congenital Neutropenia Type 4 Case (G6PC3 Mutation) Presented With Large Platelets in the Peripheral Smear.Semantic proximity Read

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

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

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

A case of syndromic neutropenia and mutation in G6PC3.Semantic proximity Read

Severe congenital neutropenia due to G6PC3 deficiency: early and delayed phenotype in two patients with two novel mutations.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

G6PC3 Deficiency: Primary Immune Deficiency Beyond Just Neutropenia.Semantic proximity Read