Ontology highlight
ABSTRACT:
SUBMITTER: Vandenberghe P
PROVIDER: S-EPMC3206537 | biostudies-literature | 2011 Jun
REPOSITORIES: biostudies-literature
Vandenberghe Peter P Beel Karolien K
Pediatric reports 20110601
OVER THE PAST DECADE, ENORMOUS PROGRESS HAS BEEN MADE IN THE UNDERSTANDING OF SEVERE CONGENITAL NEUTROPENIA (SCN), BY IDENTIFICATION OF SEVERAL CAUSAL GENE MUTATIONS: in ELANE, GFI1, HAX1, WAS and G3PC3. SCN is a preleukemic condition, independent of the genetic subtype. Acquired CSF3R mutations are specific for SCN and are strongly associated with malignant progression. In this review, we describe the known genetic subtypes of SCN, their molecular basis and clinical presentation and summarize t ...[more]