ORPHA:431166
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
Also known as: Primary immunodeficiency with post-MMR vaccine viral infection
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
114
64.1th percentile
Trials
0
Interventional, condition-specific
Researchers
952
Distinct authors in sample
Gene link
STAT2
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection is a rare primary immunodeficiency due to a defect in innate immunity disorder characterized by selective susceptibility to viral infections, particularly after systemic challenge with live viral vaccines, such as the measles, mumps and rubella (MMR) vaccine. Patients present severe, potentially fatal, manifestations to viral illness, including encephalitis, hepatitis and pneumonitis.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0014715
- OMIM:616636
- UMLS:C4225260
Additional Mondo synonyms (4)
IMD44 · immunodeficiency 44 · immunodeficiency type 44 · primary immunodeficiency with post-MMR vaccine viral infection
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
Strong — STAT2
- LiteraturePresent
114 matched papers (87 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 (STAT2).
GenCC classification: Strong.
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?
114
114 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.
114 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).
87 in the last 10 years · high confidence · 64.1th percentile (publications denominator)
Phrase hits: 114 · MeSH hits: 0
Who's working on it?
952
Distinct author names in 114 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.
- 01Liu Y4 papers · 2025
Department of Genetics, Jiangxi Maternal and Child Health Hospital, 330006, Nanchang, China.
Papers in Europe PMC - 02Atassi G3 papers · 2000
Institut Jules Bordet, Université Libre de Bruxelles, Belgium.
Papers in Europe PMC - 03Chen Y3 papers · 2025
State Key Laboratory of Oral Diseases, National Center for Stomatology, National Clinical Research Center for Oral Diseases, West China Hospital of Stomatology, Sichuan University, Chengdu, 610041, Sichuan, PR China.
Papers in Europe PMC - 04Li J3 papers · 2025
R & D Center, Eternity Bioscience Inc., Cranbury, NJ, United States.
Papers in Europe PMC - 05Li Y3 papers · 2025
Department of Laboratory Medicine, West China Hospital, Sichuan University, Chengdu, 610041, Sichuan, PR China. liyiscu@outlook.com.
Papers in Europe PMC - 06Wang X3 papers · 2022
Key Laboratory of Marine Drugs, Ministry of Education, Ocean University of China, Qingdao, Shandong, 266071, China.
Papers in Europe PMC - 07Zhou Y3 papers · 2025
R & D Center, Eternity Bioscience Inc., Cranbury, NJ, United States.
Papers in Europe PMC - 08
- 09Budylowski P2 papers · 2023
Department of Medicine, University of Toronto, Toronto ON M5S 1A8, Canada.
Papers in Europe PMC - 10Chao G2 papers · 2023
Department of Immunology, University of Toronto, Toronto ON M5S 1A8, Canada.
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.
"Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection" OR "Primary immunodeficiency with post-MMR vaccine viral infection" OR "IMD44" OR "immunodeficiency 44" OR "immunodeficiency type 44"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection" OR "Primary immunodeficiency with post-MMR vaccine viral infection" OR "IMD44" OR "immunodeficiency 44" OR "immunodeficiency type 44" OR "STAT2"
Recall-expansion terms: STAT2
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 2026-07-27T15:59:00.429Z