Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds.

British journal of haematology - 1 Mar 2009

Smith Bradley N, Ancliff Phil J, Pizzey Arnold, Khwaja Asim, Linch David C, Gale Rosemary E

Abstract excerpt

Patients with autosomal dominant (AD), sporadic and X-linked severe congenital neutropenia (SCN) may have mutations in the elastase 2 (ELA2) or Wiskott-Aldrich syndrome (WAS) genes. Homozygous mutations in the HAX1 gene have recently been reported in autosomal recessive (AR) cases of primarily Middle-Eastern descent and the original Kostmann family. We screened 109 predominantly Caucasian SCN kindreds for...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adaptor Proteins, Signal Transducing
Share to Genes, Dominant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Recessive

Share to Neutropenia

Share to Neutrophils

Share to Proteins

Share to Serine Endopeptidases

Share to Wiskott-Aldrich Syndrome Protein

Source

Identifiers

PMID: 19036076
DOI: 10.1111/j.1365-2141.2008.07493.x

Genes

HAX1

Variants

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Homozygous HAX1 mutations in severe congenital neutropenia patients with sporadic disease: a novel mutation in two unrelated British kindreds.PMID 19036076Read ↗

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

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

Genetic etiologies of severe congenital neutropenia.Semantic proximity Read ↗

HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease).Semantic proximity Read ↗

Clinical implications of ELA2-, HAX1-, and G-CSF-receptor (CSF3R) mutations in severe congenital neutropenia.Semantic proximity Read ↗

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

Novel genetic etiologies of severe congenital neutropenia.Semantic proximity Read ↗

Neurological findings and genetic alterations in patients with Kostmann syndrome and HAX1 mutations.Semantic proximity Read ↗

Kostmann's Disease and HCLS1-Associated Protein X-1 (HAX1).Semantic proximity Read ↗

Prevalence of mutations in ELANE, GFI1, HAX1, SBDS, WAS and G6PC3 in patients with severe congenital neutropenia.Semantic proximity Read ↗

A Novel Homozygous HAX1 Mutation in a Child With Cyclic Neutropenia: A Case Report and Review.Semantic proximity Read ↗

Two novel activating mutations in the Wiskott-Aldrich syndrome protein result in congenital neutropenia.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.