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Article

Compound heterozygous HAX1 mutations in a Swedish patient with severe congenital neutropenia and no neurodevelopmental abnormalities.

Pediatric blood & cancer - 1 Dec 2009

Carlsson Göran, Elinder Göran, Malmgren Helena, Trebinska Alicja, Grzybowska Ewa, Dahl Niklas, Nordenskjöld Magnus, Fadeel Bengt

Abstract excerpt

Kostmann disease or severe congenital neutropenia (SCN) is an autosomal recessive disorder of neutrophil production. Homozygous HAX1 mutations were recently identified in SCN patients belonging to the original family in northern Sweden described by Kostmann. Moreover, recent studies have suggested an association between neurological dysfunction and HAX1 deficiency. Here we describe a patient with a compound...

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Identifiers

PMID: 19499579
DOI: 10.1002/pbc.22131

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.

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