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Article

HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease).

Nature genetics - 1 Jan 2007

Klein Christoph, Grudzien Magda, Appaswamy Giridharan, Germeshausen Manuela, Sandrock Inga, Schäffer Alejandro A, Rathinam Chozhavendan, Boztug Kaan, Schwinzer Beate, Rezaei Nima, Bohn Georg, Melin Malin, Carlsson Göran, Fadeel Bengt, Dahl Niklas, Palmblad Jan, Henter Jan-Inge, Zeidler Cornelia, Grimbacher Bodo, Welte Karl

Abstract excerpt

Autosomal recessive severe congenital neutropenia (SCN) constitutes a primary immunodeficiency syndrome associated with increased apoptosis in myeloid cells, yet the underlying genetic defect remains unknown. Using a positional cloning approach and candidate gene evaluation, we identified a recurrent homozygous germline mutation in HAX1 in three pedigrees. After further molecular screening of individuals with...

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Source

Identifiers

PMID: 17187068
DOI: 10.1038/ng1940

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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