immunodeficiency due to CD25 deficiency
MONDO:0011664Mondo
Findings
No curated finding names immunodeficiency due to CD25 deficiency 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
36 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.
- Alopecia universalisHPOHP:0002289
- 1 of 1 reported patient
- CellulitisHPOHP:0100658
- 1 of 1 reported patient
- Chronic diarrheaHPOHP:0002028
- 1 of 1 reported patient · Infantile onset
- 1 of 1 reported patient
- Concave nasal ridgeHPOHP:0011120
- 1 of 1 reported patient
- Decreased anti-CD3/28-induced T-cell proliferationHPOHP:0031382
- 1 of 1 reported patient
- Decreased circulating IgA concentrationHPOHP:0002720
- 1 of 1 reported patient
- Decreased regulatory T cell proportionHPOHP:0020113
- 1 of 1 reported patient
- Decreased specific anti-polysaccharide antibody concentrationHPOHP:0002848
- 1 of 1 reported patient
- Decreased total B cell countHPOHP:0010976
- 1 of 1 reported patient
- Decreased total T cell countHPOHP:0005403
- 1 of 1 reported patient
- Eczematoid dermatitisHPOHP:0000964
- 3 of 3 reported patients
- Enlarged tonsilsHPOHP:0030812
- 1 of 1 reported patient
Show the remaining 24
- ErythrodermaHPOHP:0001019
- 1 of 1 reported patient
- Failure to thrive in infancyHPOHP:0001531
- 1 of 1 reported patient · Infantile onset
- Hemolytic anemiaHPOHP:0001878
- 1 of 1 reported patient
- HepatosplenomegalyHPOHP:0001433
- 1 of 1 reported patient · Infantile onset
- 1 of 1 reported patient
- HypothyroidismHPOHP:0000821
- 1 of 1 reported patient
- Increased circulating IgE concentrationHPOHP:0003212
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.
- IL2RAHGNC:6008
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
1 name
Resolves to: immunodeficiency due to CD25 deficiency
- Also called
- Interleukin-2 receptor alpha chain deficiency