HAX1 mutation positive children presenting with haemophagocytic lymphohistiocytosis

Br J Haematol. 2017 May;177(4):597-600. doi: 10.1111/bjh.14574. Epub 2017 Feb 7.

Abstract

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.

Keywords: HAX1; Kostmann syndrome; children; congenital neutropenia; haemophagocytic lymphohistiocytosis.

Publication types

  • Case Reports

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • Congenital Bone Marrow Failure Syndromes
  • Female
  • Granulocyte Colony-Stimulating Factor / therapeutic use
  • Hematinics / therapeutic use
  • Humans
  • Infant
  • Lymphohistiocytosis, Hemophagocytic / genetics*
  • Male
  • Mutation / genetics*
  • Neutropenia / congenital
  • Neutropenia / genetics

Substances

  • Adaptor Proteins, Signal Transducing
  • HAX1 protein, human
  • Hematinics
  • Granulocyte Colony-Stimulating Factor

Supplementary concepts

  • Neutropenia, Severe Congenital, Autosomal Recessive 3