ORPHA:169082
Combined immunodeficiency due to CD3gamma deficiency
Publications
4,008
Trials
0
Interventional, condition-specific
Researchers
1,483
Distinct authors in sample
Gene link
CD3G
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare primary immunodeficiency characterized by partial T lymphopenia (in particular cytotoxic CD8+ cells) and decreased expression of the T cell receptor (TCR)/CD3 complex with impaired proliferative response to TCR-dependent stimuli, while the mature memory T cell pool is comparatively well preserved, and B cells, natural killer cells, and immunoglobulins are typically normal. The clinical is highly heterogeneous, ranging from asymptomatic to infancy-onset of severe recurrent infections, as well as occurrence of autoimmune disease or enteropathy.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0014276
- OMIM:615607
- UMLS:C3810107
Additional Mondo synonyms (8)
CD3 deficiency · CD3-gamma deficiency · CD3gamma deficiency · IMD17 · SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive · combined immunodeficiency due to CD3gamma deficiency · immunodeficiency 17 · immunodeficiency type 17
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 — CD3G
- LiteraturePresent
4,008 matched papers (3,398 in last 10 years) Source
- Phenotype characterisedPresent
16 HPO annotations (e.g. Recurrent gastroenteritis; Chronic decreased circulating IgG2 concentration; Anoperineal fistula) 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 (CD3G).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
16
Associated phenotypes · MONDO:0014276
- Recurrent gastroenteritis
- Chronic decreased circulating IgG2 concentration
- Anoperineal fistula
- Decreased total CD8+ T cell proportion
- Chronic diarrhea
Showing 5 of 16 — 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?
4,008
4,008 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
4,008 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).
3,398 in the last 10 years · low confidence
Phrase hits: 218 · MeSH hits: 0
Who's working on it?
1,483
Distinct author names in 200 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.
- 01Wang X7 papers · 2021
Department of Thoracic Surgery, The Second Xiangya Hospital, Central South University, Changsha, P.R. China.
Papers in Europe PMC - 02Wang Y6 papers · 2023
Department of Clinical Immunology, Children's Hospital of Fudan University, National Children's Medical Center, Shanghai, China.
Papers in Europe PMC - 03Jia MZ4 papers · 2024
Department of Pathogen Biology, School of Basic Medical Sciences, Peking University, Beijing 100083, China.
Papers in Europe PMC - 04Qi YF4 papers · 2024
Laboratory of Cardiovascular Bioactive Molecule, School of Basic Medical Sciences, Peking University, Beijing 100083, China.
Papers in Europe PMC - 05Regueiro JR4 papers · 2007Papers in Europe PMC
- 06Wu J4 papers · 2010
Department of Medical Statistics and Epidemiology, School of Public Health, SUN Yat-sen University, Guangzhou, China.
Papers in Europe PMC - 07Yu YR4 papers · 2024
Department of Pathogen Biology, School of Basic Medical Sciences, Peking University, Beijing 100083, China.
Papers in Europe PMC - 08Zhang YR4 papers · 2024
Laboratory of Cardiovascular Bioactive Molecule, School of Basic Medical Sciences, Peking University, Beijing 100083, China.
Papers in Europe PMC - 09Al-Herz W3 papers · 2020
Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait City, Kuwait.
Papers in Europe PMC - 10Chen Y3 papers · 2022
Laboratory of Cardiovascular Bioactive Molecule, School of Basic Medical Sciences, Peking University, Beijing 100083, China.
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 7 · after dedupe 7 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 7 · 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 (7)
- isrctn·ISRCTN13331870·No longer recruiting·A study of the safety and efficacy of "Eryxin" in patients with rheumatoid arthritis
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN12458940·No longer recruiting·Gene therapy in children with mucopolysaccharidosis II (MPSII) consented below the age of 22 months
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN26285740·No longer recruiting·Trial to study the effect of Curvic® in vaccinated population for COVID-19
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN68832164·No longer recruiting·Immune response to COVID-19 vaccination in patients with autoimmune disorders on various types of immunosuppressive treatments
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN18138369·No longer recruiting·Comparing two different regimens of radiotherapy, combined with durvalumab immunotherapy and chemotherapy, in improving the response of rectal cancer to treatment
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN15410818·No longer recruiting·Investigating the impact of Maraviroc on liver inflammation in patients with HIV and fatty liver disease
skipped — LLM skipped (--skip-llm)
- isrctn·ISRCTN06128462·No longer recruiting·Cellular therapy of type 1 diabetes with T regulatory cells
skipped — LLM skipped (--skip-llm)
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 CD3gamma 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 CD3gamma deficiency" OR "CD3 deficiency" OR "CD3-gamma deficiency" OR "CD3gamma deficiency" OR "IMD17" OR "SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive" OR "immunodeficiency 17" OR "immunodeficiency type 17") OR ("CD3G" OR "CD3G syndrome" OR "CD3G-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Combined immunodeficiency due to CD3gamma deficiency" OR "CD3 deficiency" OR "CD3-gamma deficiency" OR "CD3gamma deficiency" OR "IMD17" OR "SCID-like immunodeficiency, T cell-partial, B cell-positive, NK cell-positive" OR "immunodeficiency 17" OR "immunodeficiency type 17"
Study-type breakdown: 0 interventional · 0 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 (4008) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-27T08:34:19.517Z