ORPHA:911
Combined immunodeficiency due to ZAP70 deficiency
Also known as: Zeta-associated-protein 70 deficiency
Publications
10,038
Trials
0
Interventional, condition-specific
Researchers
15
Distinct authors in sample
Gene link
ZAP70
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010023
- MeSH:C536722
- OMIM:269840
- UMLS:C2931299
Additional Mondo synonyms (1)
zeta-associated-protein 70 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.”
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.
- Gene identifiedPresent
Definitive — ZAP70
- LiteraturePresent
10,038 matched papers (5,903 in last 10 years) Source
- Phenotype characterisedPresent
57 HPO annotations (e.g. Recurrent infection of the gastrointestinal tract; Recurrent mucocutaneous candidiasis; Abnormal lymph node morphology) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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 (ZAP70).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
57
Associated phenotypes · MONDO:0010023
- Recurrent infection of the gastrointestinal tract
- Recurrent mucocutaneous candidiasis
- Abnormal lymph node morphology
- Increased total lymphocyte count
- Decreased mitogen-induced T-cell proliferation
Showing 5 of 57 — 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?
10,038
10,038 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.
10,038 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).
5,903 in the last 10 years · low confidence
Phrase hits: 3 · MeSH hits: 0
Who's working on it?
15
Distinct author names in 3 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.
- 01Allen J2 papers · 2023
European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK.
Papers in Europe PMC - 02Hoischen A2 papers · 2023
Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6525 GA, the Netherlands.
Papers in Europe PMC - 03Hunt SE2 papers · 2023
European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK.
Papers in Europe PMC - 04Kersten S2 papers · 2023
Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6525 GA, the Netherlands.
Papers in Europe PMC - 05Salz R2 papers · 2023
Department of Medical BioSciences, Radboud University Medical Center, Nijmegen, 6525 GA, the Netherlands.
Papers in Europe PMC - 06Saraiva-Agostinho N2 papers · 2023
European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, UK.
Papers in Europe PMC - 07Stemerdink M2 papers · 2023
Department of Otorhinolaryngology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, 6525 GA, The Netherlands.
Papers in Europe PMC - 08van der Made CI2 papers · 2023
Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6525 GA, the Netherlands.
Papers in Europe PMC - 09Vorsteveld E2 papers · 2023
Department of Human Genetics, Radboud University Medical Center, Nijmegen, 6525 GA, the Netherlands.
Papers in Europe PMC - 10’t Hoen PA1 paper · 2022
Center for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA, Nijmegen, the Netherlands
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-29
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).
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 ZAP70 deficiency — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26This 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 ZAP70 deficiency" OR "Zeta-associated-protein 70 deficiency") OR ("ZAP70" OR "ZAP70 syndrome" OR "ZAP70-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Combined immunodeficiency due to ZAP70 deficiency" OR "Zeta-associated-protein 70 deficiency"
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; 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 (10038) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-26T15:53:33.061Z