immunodeficiency 51
MONDO:0013500Mondo
Findings
No curated finding names immunodeficiency 51 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
17 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.
- Cutaneous abscessHPOHP:0031292
- 1 of 1 reported patient
- PustuleHPOHP:0200039
- 1 of 1 reported patient
- Recurrent cutaneous fungal infectionsHPOHP:0011370
- 1 of 1 reported patient
- Recurrent mucocutaneous candidiasisHPOHP:0002728
- 1 of 1 reported patient
- Recurrent otitis mediaHPOHP:0000403
- 1 of 1 reported patient
- Recurrent skin infectionsHPOHP:0001581
- 1 of 1 reported patient
- Recurrent Staphylococcus aureus infectionHPOHP:0002726
- 1 of 1 reported patient
- Recurrent oral thrushHPOHP:0009098
- 20 of 21 reported patients
- FolliculitisHPOHP:0025084
- 12 of 22 reported patients
- Pustular rashHPOHP:0033605
- 9 of 21 reported patients
- Chronic furunculosisHPOHP:0011132
- 8 of 22 reported patients
- PneumoniaHPOHP:0002090
- 5 of 21 reported patients
Show the remaining 5
- Recurrent sinusitisHPOHP:0011108
- 5 of 22 reported patients
- Eczematoid dermatitisHPOHP:0000964
- 4 of 21 reported patients
- Recurrent bronchitisHPOHP:0002837
- 3 of 22 reported patients
- Abnormal lymphocyte morphologyHPOHP:0004332
- 0 of 1 reported patient
- Abnormal lymphocyte physiologyHPOHP:0031409
- 0 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.
- IL17RAHGNC:5985
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2018
Where it sits
- A kind of