X-linked severe congenital neutropenia
Findings
No curated finding names X-linked severe congenital neutropenia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
This syndrome is an immunodeficiency syndrome characterized by recurrent major bacterial infections, severe congenital neutropenia, and monocytopenia. It has been described in five males spanning three generations of one family. It is transmitted as an X-linked recessive trait and is caused by mutations in the WAS gene, encoding the WASP protein.
Definition from the Mondo Disease Ontology (MONDO:0010294), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
6 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.
- Decreased total neutrophil countHPOHP:0001875
- 6 of 6 reported patients · Congenital onset
- Very frequent (80% to 99% of cases)
- Inverted CD4:CD8 ratioHPOHP:0033222
- 6 of 6 reported patients
- Recurrent bacterial infectionsHPOHP:0002718
- 6 of 6 reported patients
- Very frequent (80% to 99% of cases)
- Decreased total monocyte countHPOHP:0012312
- 4 of 6 reported patients
- Very frequent (80% to 99% of cases)
- Eczematoid dermatitisHPOHP:0000964
- 0 of 6 reported patients
- Bone marrow arrest at the promyelocytic stageHPOHP:0033607
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.
- WASHGNC:12731
- Definitive · ClinGen · X-linked · 2021
- Definitive · Natera · X-linked recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2022
- Strong · PanelApp Australia · X-linked · 2025
- Moderate · Ambry Genetics · X-linked · 2022
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
2 names
Resolves to: X-linked severe congenital neutropenia
- Also called
- neutropenia, severe congenital, X-linked, X-linked recessivesevere congenital neutropenia, X-linked