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Article

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

Blood - 15 May 2008

Germeshausen Manuela, Grudzien Magda, Zeidler Cornelia, Abdollahpour Hengameh, Yetgin Sevgi, Rezaei Nima, Ballmaier Matthias, Grimbacher Bodo, Welte Karl, Klein Christoph

Abstract excerpt

Homozygous mutations in HAX1 cause an autosomal recessive form of severe congenital neutropenia (CN). By screening 88 patients with CN, we identified 6 additional patients with HAX1 mutations carrying 4 novel mutations. Of these, 2 affect both published transcript variants of HAX1; the other 2 mutations affect only transcript variant 1. Analysis of the patients' genotypes and phenotypes revealed a striking...

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Identifiers

PMID: 18337561
DOI: 10.1182/blood-2007-11-120667

Genes

HAX1

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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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