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Article

Severe congenital neutropenia in two siblings related to HAX1 mutation without neurodevelopmental disorders.

Genetic counseling (Geneva, Switzerland) - 1 Jan 2013

Patiroglu T, Gungor H Eke, Triot A, Unal E

Abstract excerpt

Severe congenital neutropenia (SCN) is a rare primary myelopoiesis disorder, characterized by reduced absolute neutrophil counts from birth, increased susceptibility to recurrent and life-threatening infections, and a preleukemic predisposition. Herein, we describe two siblings with SCN born from consanguineous parents who were referred for complaints of recurrent cutaneous infections, gingivitis, purulent otitis...

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Source

Identifiers

PMID: 24341138

Genes

HAX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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