immunodeficiency 15a
MONDO:0032599Mondo
Findings
No curated finding names immunodeficiency 15a yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Childhood onset
HPO, annotations 2026-09-02
Features
9 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 memory B cell proportionHPOHP:0030374
- 2 of 2 reported patients
- Decreased total CD4+ T cell proportionHPOHP:0032218
- 2 of 2 reported patients
- Decreased total CD8+ T cell proportionHPOHP:0005415
- 2 of 2 reported patients
- Recurrent otitis mediaHPOHP:0000403
- 3 of 4 reported patients
- Cutaneous abscessHPOHP:0031292
- 2 of 4 reported patients
- Recurrent respiratory infectionsHPOHP:0002205
- 2 of 4 reported patients
- Recurrent sinusitisHPOHP:0011108
- 2 of 4 reported patients
- Acne inversaHPOHP:0040154
- 1 of 4 reported patients
- Recurrent mucocutaneous candidiasisHPOHP:0002728
- 1 of 4 reported patients
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.
- IKBKBHGNC:5960
- Strong · Ambry Genetics · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2019
- Moderate · Ambry Genetics · Autosomal dominant · 2025
- Moderate · ClinGen · Autosomal dominant · 2025
Where it sits
- A kind of