HAX1 mutation positive children presenting with haemophagocytic lymphohistiocytosis.
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.
Department of Paediatric Haematology-Oncology, Dr. Behçet Uz Children Research and Training Hospital, Izmir, Turkey.
Tuba H
TH
Karapınar
Department of Paediatric Haematology-Oncology, Ege University Faculty of Medicine, Izmir, Turkey.
Deniz
D
Yılmaz Karapinar
Department of Paediatric Haematology-Oncology, Dr. Behçet Uz Children Research and Training Hospital, Izmir, Turkey.
Yeşim
Y
Oymak
Department of Paediatric Haematology-Oncology, Dr. Behçet Uz Children Research and Training Hospital, Izmir, Turkey.
Yılmaz
Y
Ay
Department of Paediatric Haematology-Oncology, Dr. Behçet Uz Children Research and Training Hospital, Izmir, Turkey.
Bengü
B
Demirağ
Department of Medical Genetics, Ege University Faculty of Medicine, Izmir, Turkey.
Ayça
A
Aykut
Department of Medical Genetics, Ege University Faculty of Medicine, Izmir, Turkey.
Hüseyin
H
Onay
Department of Medical Genetics, Dr. Behçet Uz Children Research and Training Hospital, Izmir, Turkey.
Filiz
F
Hazan
Department of Paediatric Haematology-Oncology, Ege University Faculty of Medicine, Izmir, Turkey.
Yeşim
Y
Aydınok
Department of Medical Genetics, Ege University Faculty of Medicine, Izmir, Turkey.
Ferda
F
Özkınay
Department of Paediatric Haematology-Oncology, Dr. Behçet Uz Children Research and Training Hospital, Izmir, Turkey.
Canan
C
Vergin
D048868:Adaptor Proteins, Signal Transducing / Q000235:genetics*; D000080984:Congenital Bone Marrow Failure Syndromes; D005260:Female; D016179:Granulocyte Colony-Stimulating Factor / Q000627:therapeutic use; D006397:Hematinics / Q000627:therapeutic use; D006801:Humans; D007223:Infant; D051359:Lymphohistiocytosis, Hemophagocytic / Q000235:genetics*; D008297:Male; D009154:Mutation / Q000235:genetics*; D009503:Neutropenia / Q000151:congenital / Q000235:genetics
D048868:Adaptor Proteins, Signal Transducing; C104759:HAX1 protein, human; D006397:Hematinics; D016179:Granulocyte Colony-Stimulating Factor

HAX1
; Kostmann syndrome; children; congenital neutropenia; haemophagocytic lymphohistiocytosis