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, sa.3, ss.253-258, 2013 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 24 Sayı: 3
  • Basım Tarihi: 2013
  • Dergi Adı: GENETIC COUNSELING
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.253-258
  • Anahtar Kelimeler: Severe congenital neutropenia, Clinical manifestations, HAX1 mutation, ELA2, GENE
  • Erciyes Üniversitesi Adresli: Evet

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.