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Article

Association of HAX1 deficiency with neurological disorder.

Neuropediatrics - 1 Oct 2007

Rezaei N, Chavoshzadeh Z, R Alaei O, Sandrock I, Klein C

Abstract excerpt

Severe congenital neutropenia (SCN) is a rare, heterogeneous, primary immunodeficiency disorder characterized by early onset of severe bacterial infections. We here describe a case of SCN associating neutropenia and neurodevelopmental delay. The girl was well until the age of 9 months, when she s...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 18330843
DOI: 10.1055/s-2008-1062704

Genes

HAX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18330843-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Association of HAX1 deficiency with neurological disorder.PMID 18330843Read ↗

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HAX1-related congenital neutropenia: Long-term observation in paediatric and adult patients enrolled in the European branch of the Severe Chronic Neutropenia International Registry (SCNIR).Semantic proximity Read ↗

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HAX-1 deficiency: Characteristics of five cases including an asymptomatic patient.Semantic proximity Read ↗

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