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 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 24 Issue: 3
  • Publication Date: 2013
  • Title of Journal : GENETIC COUNSELING
  • Page Numbers: pp.253-258

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.