Wiskott-Aldrich syndrome 2
Findings
No curated finding names Wiskott-Aldrich syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Wiskott-Aldrich syndrome in which the cause of the disease is a mutation in the WIPF1 gene.
Definition from the Mondo Disease Ontology (MONDO:0013779), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
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.
- Abnormal natural killer cell physiologyHPOHP:0012177
- 1 of 1 reported patient
- Abnormal T cell proliferationHPOHP:0031379
- 1 of 1 reported patient
- Decreased total CD8+ T cell proportionHPOHP:0005415
- 1 of 1 reported patient
- Eczematoid dermatitisHPOHP:0000964
- 1 of 1 reported patient
- Recurrent infectionsHPOHP:0002719
- 1 of 1 reported patient
- ThrombocytopeniaHPOHP:0001873
- 1 of 1 reported patient
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.
- WIPF1HGNC:12736
- Definitive · ClinGen · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2022
Where it sits
- A kind of
Other names
3 names
Resolves to: Wiskott-Aldrich syndrome 2
- Also called
- WIPF1 Wiskott-Aldrich syndromeWiskott-Aldrich syndrome caused by mutation in WIPF1Wiskott-Aldrich syndrome type 2