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Article

[Neurological findings in severe congenital neutropenia with HAX1 mutations].

No to hattatsu = Brain and development - 1 Nov 2009

Ishikawa Nobutsune, Kobayashi Masao

Abstract excerpt

HAX1 is an anti-apoptotic factor with multiple functions that controls the integrity of the inner mitochondrial membrane potential and interacts with various viruses and cellular proteins. We have already reported that severe congenital neutropenia (SCN) with HAX1mutations produces neurological s...

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Source

Identifiers

PMID: 19928538

Genes

HAX1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19928538-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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[Neurological findings in severe congenital neutropenia with HAX1 mutations].PMID 19928538Read ↗

Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene.Semantic proximity Read ↗

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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 ↗

Novel HAX1 mutations in patients with severe congenital neutropenia reveal isoform-dependent genotype-phenotype associations.Semantic proximity Read ↗

Novel HAX1 gene mutations associated to neurodevelopment abnormalities in two Italian patients with severe congenital neutropenia.Semantic proximity Read ↗

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

Severe developmental delay and epilepsy in a Japanese patient with severe congenital neutropenia due to HAX1 deficiency.Semantic proximity Read ↗

[Molecular analysis of two cases of severe congenital neutropenia].Semantic proximity Read ↗

[Genetic diagnosis of a patient with non-syndromic variants of congenital neutropenia].Semantic proximity Read ↗

A Novel Intronic Mutation Reduces HAX1 Level and is Associated With Severe Congenital Neutropenia.Semantic proximity Read ↗

HAX1 mutations causing severe congenital neuropenia and neurological disease lead to cerebral microstructural abnormalities documented by quantitative MRI.Semantic proximity Read ↗

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