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ORPHA:169100

Immunodeficiency due to CD25 deficiency

high confidenceDisorder

Also known as: Interleukin-2 receptor alpha chain deficiency

Query health: suspect — Only one of 3 strategies returned hits (phrase).

Publications

4

12.1th percentile

Trials

0

Interventional, condition-specific

Researchers

33

Distinct authors in sample

Gene link

IL2RA

Definitive

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic primary immunodeficiency due to a defect in adaptive immunity characterized by severe immunodeficiency, presenting with profound susceptibility to viral, fungal and bacterial infections due to impaired CD25-mediated T-regulatory cell function, in association with severe autoimmune disease, such as alopecia universalis, erythrodermia, and autoimmune thyroiditis and enteropathy.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (1)

immunodeficiency due to CD25 deficiency

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

2/6 stages with a signal

No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Definitive — IL2RA

  2. LiteraturePresent

    4 matched papers (2 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Yes — we know a specific gene responsible (IL2RA).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

Not enriched in this build — Monarch phenotype joins were not run for this record.

Animal models (Monarch / Alliance)

Not enriched in this build.

Literature

Is anyone studying this?

4

4 papers have ever been indexed under this name. For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

4 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).

2 in the last 10 years · high confidence · 12.1th percentile (publications denominator)

Phrase hits: 4 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

33

Distinct author names in 4 sampled papers — named people below.

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Aarabi M1 paper · 2026

    Medical Genetics and Genomics Laboratories, University of Pittsburgh Medical Center, Pittsburgh, PA, USA; Departments of Pathology, and Obstetrics, Gynecology, and Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA. Electronic address: mahmoud.aarabi@pitt.edu.

    Papers in Europe PMC
  2. 02
    Al-Mousa H1 paper · 2026

    Section of Allergy and Immunology, Department of Pediatrics, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.

    Papers in Europe PMC
  3. 03
    Al-Mulla H1 paper · 2026

    Joan H. Marks Graduate Program in Human Genetics, Sarah Lawrence College, Bronxville, NY 10708, USA.

    Papers in Europe PMC
  4. 04
    Alajlan H1 paper · 2026

    Department of Translational Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.

    Papers in Europe PMC
  5. 05
    Alazami AM1 paper · 2026

    Department of Translational Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.

    Papers in Europe PMC
  6. 06
    Alzubedy M1 paper · 2026

    Section of Allergy and Immunology, Department of Pediatrics, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.

    Papers in Europe PMC
  7. 07
    Balascakova M1 paper · 2011
    Papers in Europe PMC
  8. 08
    Ballow M1 paper · 2008
    Papers in Europe PMC
  9. 09
    Baradaran-Heravi A1 paper · 2011
    Papers in Europe PMC
  10. 10
    Bashar A1 paper · 2026

    Data Science Graduate Program, University of Colorado Boulder, Boulder, CO, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).

Data as of 27 July 2026

No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.

high confidence · 36.5th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Where to find support

We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

"Immunodeficiency due to CD25 deficiency" OR "Interleukin-2 receptor alpha chain deficiency"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Interleukin 2 Receptor, Alpha, Deficiency of

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Immunodeficiency due to CD25 deficiency" OR "Interleukin-2 receptor alpha chain deficiency" OR "Interleukin 2 Receptor, Alpha, Deficiency of" OR "IL2RA"

Recall-expansion terms: IL2RA

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: suspect — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T08:35:10.054Z