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ORPHA:317428

Combined immunodeficiency due to ORAI1 deficiency

low confidenceSubtype of disorder

Also known as: CID due to ORAI1 deficiency

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

6,915

Trials

0

Interventional, condition-specific

Researchers

13

Distinct authors in sample

Gene link

ORAI1

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Combined immunodeficiency (CID) due to ORAI1 deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction characterized by recurrent infections, , ectodermal and anhydrosis.

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 type 9

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.”

3/6 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

    Strong — ORAI1

  2. LiteraturePresent

    6,915 matched papers (4,741 in last 10 years) Source

  3. Phenotype characterisedPresent

    24 HPO annotations (e.g. Heat intolerance; Myopathy; Hypotonia) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  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 (ORAI1).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

24

Associated phenotypes · MONDO:0013007

  • Heat intolerance
  • Myopathy
  • Hypotonia
  • Gowers sign
  • Failure to thrive

Showing 5 of 24 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

6,915

6,915 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

6,915 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

4,741 in the last 10 years · low confidence

Phrase hits: 2 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

13

Distinct author names in 2 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
    Al-Hammadi S1 paper · 2021

    Department of Pediatrics, College of Medicine and Health Sciences, UAE University, Al Ain, United Arab Emirates.

    Papers in Europe PMC
  2. 02
    Almarzooqi F1 paper · 2021

    Department of Pediatrics, College of Medicine and Health Sciences, UAE University, Al Ain, United Arab Emirates.

    Papers in Europe PMC
  3. 03
    Aragon-Gawińska K1 paper · 2026

    Department of Neurology, Medical University of Warsaw, Warsaw, Poland, ERN EURO-NMD.

    Papers in Europe PMC
  4. 04
    Czeczko K1 paper · 2026

    Department of Neurology, Medical University of Warsaw, Warsaw, Poland, ERN EURO-NMD.

    Papers in Europe PMC
  5. 05
    Franaszczyk M1 paper · 2026

    Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.

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

    Department of Neurology, Medical University of Warsaw, Warsaw, Poland, ERN EURO-NMD.

    Papers in Europe PMC
  7. 07
    Kostera-Pruszczyk A1 paper · 2026

    Department of Neurology, Medical University of Warsaw, Warsaw, Poland, ERN EURO-NMD.

    Papers in Europe PMC
  8. 08
    Potulska-Chromik A1 paper · 2026

    Department of Neurology, Medical University of Warsaw, Warsaw, Poland, ERN EURO-NMD.

    Papers in Europe PMC
  9. 09
    Rosiak E1 paper · 2026

    2ndDepartment of Radiology, Medical University of Warsaw, Warsaw, Poland.

    Papers in Europe PMC
  10. 10
    Souid AK1 paper · 2021

    Department of Pediatrics, College of Medicine and Health Sciences, UAE University, Al Ain, United Arab Emirates.

    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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th 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.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 40 · after dedupe 40 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 40 · dropped 0 · fetched 2026-07-30

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (40)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Combined immunodeficiency due to ORAI1 deficiency — check Associations / patient organisations on that page.

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.

("Combined immunodeficiency due to ORAI1 deficiency" OR "CID due to ORAI1 deficiency" OR "immunodeficiency type 9") OR (MESH:"Immune dysfunction with T-cell inactivation due to calcium entry defect 1") OR ("ORAI1" OR "ORAI1 syndrome" OR "ORAI1-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Immune dysfunction with T-cell inactivation due to calcium entry defect 1

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

"Combined immunodeficiency due to ORAI1 deficiency" OR "CID due to ORAI1 deficiency" OR "immunodeficiency type 9" OR "Immune dysfunction with T-cell inactivation due to calcium entry defect 1"

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

Query health: suspect — strategies attempted: phrase, mesh; 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
  • Publication count (6915) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T13:16:13.158Z