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


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

GENETIC COUNSELING, cilt.24, ss.253-258, 2013 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 24 Konu: 3
  • Basım Tarihi: 2013
  • Dergi Adı: GENETIC COUNSELING
  • Sayfa Sayıları: ss.253-258

Özet

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.