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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.