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Article

Ovarian failure in HAX1-deficient patients: is there a gender-specific difference in pubertal development in severe congenital neutropenia or Kostmann disease?

Acta paediatrica (Oslo, Norway : 1992) - 1 Jan 2013

Carlsson Göran, Kriström Berit, Nordenskjöld Magnus, Henter Jan-Inge, Fadeel Bengt

Abstract excerpt

AIM: Severe congenital neutropenia (SCN) is a rare disorder of myelopoiesis characterized by neutropenia, recurrent bacterial infections and a maturation arrest of the myelopoiesis in the bone marrow. Homozygous mutations in the HAX1 gene were described in patients with autosomal recessive SCN or Kostmann disease. Some of these patients display neurological disease. We noted, during the course of clinical...

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Identifiers

PMID: 23050867
DOI: 10.1111/apa.12050

Genes

HAX1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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Ovarian failure in HAX1-deficient patients: is there a gender-specific difference in pubertal development in severe congenital neutropenia or Kostmann disease?PMID 23050867Read ↗

A Little Known But Very Common Phenotype in Patients with Severe Congenital Neutropenia Due to HAX1 Deficiency: Premature Ovarian InsufficiencySemantic 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 ↗

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

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

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

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

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