immunodeficiency 122
MONDO:0971151Mondo
Findings
No curated finding names immunodeficiency 122 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
33 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.
- AlopeciaHPOHP:0001596
- 1 of 1 reported patient
- Aplasia of the thymusHPOHP:0005359
- 1 of 1 reported patient
- Decreased naive CD4+ T cell proportionHPOHP:0410378
- 2 of 2 reported patients
- Decreased naive CD8+ T cell proportionHPOHP:0410377
- 2 of 2 reported patients
- Decreased unswitched memory B cell proportionHPOHP:0032126
- 1 of 1 reported patient
- Dry skinHPOHP:0000958
- 1 of 1 reported patient
- ErythrodermaHPOHP:0001019
- 1 of 1 reported patient
- Food allergyHPOHP:0500093
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- HepatomegalyHPOHP:0002240
- 1 of 1 reported patient
- Increased circulating IgE concentrationHPOHP:0003212
- 1 of 1 reported patient
- LymphadenopathyHPOHP:0002716
- 1 of 1 reported patient
Show the remaining 21
- Oligoclonal T cell expansionHPOHP:0031430
- 1 of 1 reported patient
- Recurrent bacterial infectionsHPOHP:0002718
- 1 of 1 reported patient
- Recurrent upper respiratory tract infectionsHPOHP:0002788
- 2 of 2 reported patients
- Recurrent viral infectionsHPOHP:0004429
- 1 of 1 reported patient
- Severe combined immunodeficiencyHPOHP:0004430
- 2 of 2 reported patients
- SplenomegalyHPOHP:0001744
- 2 of 2 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.
- POLD3HGNC:20932
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · ClinGen · Autosomal recessive · 2025
Where it sits
- A kind of