" /> Neutropenia, severe congenital, 5, autosomal recessive - CISMeF





Preferred Label : Neutropenia, severe congenital, 5, autosomal recessive;

Symbol : SCN5;

CISMeF acronym : SCN5;

Type : Phenotype, molecular basis known;

Description : Severe congenital neutropenia-5 is an autosomal recessive primary immunodeficiency disorder characterized primarily by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis (summary by Vilboux et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of severe congenital neutropenia, see SCN1 (202700).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the vacuolar protein sorting 45 homolog gene (VPS45, 610035.0001);

Prefixed ID : #615285;

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11/07/2025


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