Article
HAX1 mutation positive children presenting with haemophagocytic lymphohistiocytosis.
British journal of haematology - 1 May 2017
Karapınar Tuba H, Yılmaz Karapinar Deniz, Oymak Yeşim, Ay Yılmaz, Demirağ Bengü, Aykut Ayça, Onay Hüseyin, Hazan Filiz, Aydınok Yeşim, Özkınay Ferda, Vergin Canan
Abstract excerpt
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...
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