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Article

Severe congenital neutropenia in 2 siblings of consanguineous parents. The role of HAX1 deficiency.

Journal of investigational allergology & clinical immunology - 1 Jan 2009

Mamishi S, Esfahani S A, Parvaneh N, Diestelhorst J, Rezaei N

Abstract excerpt

Severe congenital neutropenia (SCN) is a rare primary immunodeficiency disease that is characterized by persistent severe neutropenia and severe early-onset bacterial infections. We report the case of 2 siblings with SCN who were the children of consanguineous parents. The HAX1 mutation was identified in both siblings. Both patients suffered from oral ulcers, candidiasis, respiratory tract infections, and...

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Identifiers

PMID: 20128427

Genes

HAX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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