Kostmann syndrome
Findings
No curated finding names Kostmann syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Kostmann syndrome is a rare, severe, congenital neutropenia disorder characterized by a lack of mature neutrophils (absolute neutrophil counts less than 500 cells/mm3) associated with frequent, recurrent bacterial infections (e.g. otitis media, pneumonia, sinusitis, urinary tract infections, abscesses of skin and/or liver) and increased promyelocytes in the bone marrow. Periodontal disease, as well as neurological symptoms, such as cognitive impairment, severe neurodegeneration and epilepsy, have been reported in some patients.
Definition from the Mondo Disease Ontology (MONDO:0012548), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
11 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- ClumsinessHPOHP:0002312
- 2 of 2 reported patients
- Decreased total neutrophil countHPOHP:0001875
- 6 of 6 reported patients
- 2 of 2 reported patients · Congenital onset
- Intellectual disabilityHPOHP:0001249
- 2 of 2 reported patients
- Recurrent bacterial infectionsHPOHP:0002718
- 6 of 6 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 2 of 2 reported patients
- Conductive hearing impairment
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HAX1HGNC:16915
- Definitive · Ambry Genetics · Autosomal recessive · 2023
- Definitive · G2P · Autosomal recessive · 2015
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: Kostmann syndrome
- Also called
- infantile agranulocytosisneutropenia, severe congenital 3, autosomal recessivesevere congenital neutropenia type 3