SEVERE CONGENITAL NEUTROPENIA IN TWO SIBLINGS RELATED TO HAX1 MUTATION WITHOUT NEURODEVELOPMENTAL DISORDERS


PATIROĞLU T., GUNGOR H. E., TRIOT A., ÜNAL E.

GENETIC COUNSELING, vol.24, no.3, pp.253-258, 2013 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 24 Issue: 3
  • Publication Date: 2013
  • Journal Name: GENETIC COUNSELING
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.253-258
  • Keywords: Severe congenital neutropenia, Clinical manifestations, HAX1 mutation, ELA2, GENE
  • Erciyes University Affiliated: Yes

Abstract

Severe congenital neutropenia in two siblings related to HAX1 mutation without neurodevelopmental disorders: Severe congenital neutropenia (SCN) is a lire primary myelopoiesis disorder, characterized by reduced absolute neutrophil counts from birth, increased susceptibility to recurrent and life-threatening infections, and a preleukemic predisposition.