HAX1 mutation positive children presenting with haemophagocytic lymphohistiocytosis
Küçük Resim Yok
Tarih
2017
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Wiley
Erişim Hakkı
info:eu-repo/semantics/closedAccess
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.
Açıklama
Anahtar Kelimeler
congenital neutropenia, haemophagocytic lymphohistiocytosis, HAX1, children, Kostmann syndrome
Kaynak
British Journal of Haematology
WoS Q Değeri
Q1
Scopus Q Değeri
Q1
Cilt
177
Sayı
4
