HAX 1 mutation positive children presenting with haemophagocytic lymphohistiocytosis
Makaleler > Tam Makale · 2017
Yazarlar: Tuba H. Karapinar, Deniz YILMAZ KARAPINAR, Yesim OYMAK, Yilmaz AY, Bengu DEMİRAĞ, Ayça AYKUT, HÜSEYİN ONAY, Filiz HAZAN, Yeşim AYDINOK, Feriştah Ferda ÖZKINAY, Canan VERGİN
British Journal of Haematology, SCI Expanded İndekslerine Giren Dergi, Uluslararası, Wos, 2017, cilt 177, ss 597-600
DOI: 10.1111/bjh.14574
Özet
The genetic basis of haemophagocytic lymphohistiocytosis (HLH) has not been elucidated in 10% of affected patients. In this study, we report four HLH episodes in three patients with HAX1 gene mutations. We screened the mutations associated with congenital neutropenia (CN) because the neutropenia persisted following HLH treatment. There were homozygous HAX1 mutations detected in all patients. This is the first case series of patients with CN caused by HAX1 mutation who presented with HLH. We hypothesize that severe neutropenia persists after an HLH episode in children without HLH mutations (especially infants) because these patients have CN caused by HAX1 mutations.