MeSH Browser

MeSH Supplementary: Neutropenia, Severe Congenital, Autosomal Recessive 3
Unique ID: C537592
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C537592
Entry Term(s): Agranulocytosis, Infantile; Agranulocytosis, infantile genetic; Autosomal dominant or sporadic congenital neutropenia; Congenital Agranulocytosis; Congenital Neutropenia; Infantile genetic agranulocytosis; Kostmann disease; Kostmann syndrome; Kostmann's Agranulocytosis; Kostmann's Syndrome; Severe Infantile Genetic Neutropenia; Severe congenital neutropenia
Registry Numbers: 0
Heading Mapped to: Neutropenia / congenital; *Congenital Bone Marrow Failure Syndromes
Frequency: 224
Note: Hematopoiesis disorders characterized by a maturation arrest of PROMYELOCYTES during granulopoiesis; peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l, and early onset of severe BACTERIAL INFECTIONS. Dominant mutations in the ELANE gene that result in a form of severe congenital neutropenia (SCN1) have been identified in about 60% of patients of European or Middle Eastern descent. OMIM: 202700. Autosomal recessive mutations have been identified in the HAX1 gene in SCN3/ Kostmann Disease (OMIM: 610738)
Date of Entry: 2010/08/25
Revision Date: 2019/06/17

Neutropenia, Severe Congenital, Autosomal Recessive 3 MeSH Supplementary Concept Data 2025