HAX1 mutation positive children presenting with haemophagocytic lymphohistiocytosis

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 HAX1 gene mutations. We screened the mutations associated with congenital neutropenia (CN) because the neutrop...

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Bibliographic Details
Published in:British journal of haematology 2017-05, Vol.177 (4), p.597-600
Main Authors: Karapınar, Tuba H., Yılmaz Karapinar, Deniz, Oymak, Yeşim, Ay, Yılmaz, Demirağ, Bengü, Aykut, Ayça, Onay, Hüseyin, Hazan, Filiz, Aydınok, Yeşim, Özkınay, Ferda, Vergin, Canan
Format: Article
Language:English
Subjects:
Adaptor Proteins, Signal Transducing - genetics
Children
congenital neutropenia
Female
Granulocyte Colony-Stimulating Factor - therapeutic use
haemophagocytic lymphohistiocytosis
HAX1
HAX1 gene
Hematinics - therapeutic use
Hematology
Humans
Infant
Infants
Kostmann syndrome
Lymphohistiocytosis, Hemophagocytic - genetics
Male
Mutation
Mutation - genetics
Neutropenia
Neutropenia - congenital
Neutropenia - genetics
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Summary: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 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.
ISSN:0007-1048
1365-2141
DOI:10.1111/bjh.14574