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Cyclic manner of neutropenia in a patient with HAX-1 mutation

Funda Erol Cipe1, Mehmet Halil Celiksoy2, Biray Erturk3

  • 1a Department of Pediatric Allergy and Immunology , Kanuni Sultan Suleyman Education and Research Hospital , Istanbul , Turkey.

Pediatric Hematology and Oncology
|October 23, 2018
PubMed

Insights

Severe congenital neutropenia (SCN) can stem from HAX1 mutations. This case highlights HAX1 deficiency presenting cyclically, challenging typical presentations and suggesting broader diagnostic considerations.

Area of Science:

  • Hematology
  • Genetics
  • Immunology

Background:

  • Severe congenital neutropenia (SCN) is a group of genetic disorders characterized by impaired neutrophil maturation.
  • SCN is linked to various genetic defects, including mutations in ELANE, GFI1, HAX1, G6PC3, JAGN1, VPS45, or activating WAS gene mutations.

Observation:

  • A 6-year-old female presented with recurrent aphthous stomatitis.
  • The patient exhibited cyclic neutropenia over a 6-week period.
  • Persistent neutropenia occurred during a severe varicella infection, prompting HAX1 mutation analysis.

Findings:

  • The patient was found to have a HAX1 mutation.
  • The HAX1 mutation's presentation was atypical compared to previously reported cyclic neutropenia cases.
  • Neutrophil counts were normal between infectious episodes.

Implications:

  • HAX1 deficiency should be considered in patients with cyclic neutropenia, even with normal neutrophil counts between infections.
  • This case broadens the understanding of HAX1-related neutropenia presentations.
  • Further research is needed to elucidate the full spectrum of HAX1 mutations and their clinical manifestations.

Keywords:
Hematologyimmunologyneutropenia

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