HAX 1  mutation positive children presenting with haemophagocytic lymphohistiocytosis | Zendy

Karapınar Tuba H. | Zendy; Yılmaz Karapinar Deniz | Zendy; Oymak Yeşim | Zendy; Ay Yılmaz | Zendy; Demirağ Bengü | Zendy; Aykut Ayça | Zendy; Onay Hüseyin | Zendy; Hazan Filiz | Zendy; Aydınok Yeşim | Zendy; Özkınay Ferda | Zendy; Vergin Canan | Zendy

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HAX 1 mutation positive children presenting with haemophagocytic lymphohistiocytosis

Author(s) -

Karapınar Tuba H.,

Yılmaz Karapinar Deniz,

Oymak Yeşim,

Ay Yılmaz,

Demirağ Bengü,

Aykut Ayça,

Onay Hüseyin,

Hazan Filiz,

Aydınok Yeşim,

Özkınay Ferda,

Vergin Canan

Publication year - 2017

Publication title -

british journal of haematology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.907

H-Index - 186

eISSN - 1365-2141

pISSN - 0007-1048

DOI - 10.1111/bjh.14574

Subject(s) - neutropenia , congenital neutropenia , hemophagocytic lymphohistiocytosis , mutation , medicine , immunology , pediatrics , gene , genetics , chemotherapy , biology , disease

Summary 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 HAX 1 gene mutations. We screened the mutations associated with congenital neutropenia ( CN ) because the neutropenia persisted following HLH treatment. There were homozygous HAX 1 mutations detected in all patients. This is the first case series of patients with CN caused by HAX 1 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 HAX 1 mutations.

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