Features include always present findings: Alopecia universalis, Failure to thrive in infancy, Increased circulating IgE concentration, and Type I diabetes mellitus and others. 37 total HPO annotations.

IL2RA encodes interleukin 2 receptor subunit alpha (272 aa). Receptor for interleukin-2. The receptor is involved in the regulation of immune tolerance by controlling regulatory T cells (TREGs) activity. Highest expression in Spleen (9.3 TPM) and Cells EBV-transformed lymphocytes (8.3 TPM).

Immunodeficiency due to CD25 deficiency is caused by mutations in the IL2RA gene on chromosome 10.

The IL2RA protein participates in IL2RA (CD25) gene expression is stimulated by FOXP3 and inhibited by RUNX1 and RUNX1:CBFB:FOXP3:IL2RA gene pathways.

IL2RA is classified as a druggable target (Clinically Actionable, Druggable Genome, and External Side Of Plasma Membrane categories) with score 2.0.

Genetic testing for IL2RA is available. Testing is considered confirmatory for diagnosis.

Phenotype severity distribution: 35 always present features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for immunodeficiency due to CD25 deficiency.

15 publications have been identified in PubMed for immunodeficiency due to CD25 deficiency. Research spans Basic Science / Preclinical (60%), Review / Meta-Analysis (20%), and Case Report / Case Series (7%).