ORPHA:169082
Combined immunodeficiency due to CD3gamma deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
218
71th percentile
Trials
0
Interventional, condition-specific
Researchers
1,483
Distinct authors in sample
Gene link
CD3G
Definitive
Readiness
2/6
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.”
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.
- Gene identifiedPresent
Definitive — CD3G
- LiteraturePresent
218 matched papers (130 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
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?
218
218 papers have ever been published on this condition (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.
218 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).
130 in the last 10 years · high confidence · 71th percentile (publications denominator)
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 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 2026-07-26This 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"
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" OR "CD3G"
Recall-expansion terms: CD3G
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, 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 2026-07-27T08:34:19.517Z