Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection (IMD44) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection

MONDO:0014715

Also known as:IMD44immunodeficiency 44immunodeficiency type 44

Overview

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.

GeneticsAutosomal recessive · STAT2 (chr 12)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Elevated CSF neopterin level, Decreased total lymphocyte count, and Decreased circulating IgA concentration; and common findings: Decreased circulating total IgM, Increased circulating lactate concentration, Elevated circulating alanine aminotransferase concentration, and Severe viral infection. 10 total HPO annotations.

Organ System	Phenotype Count	Example Features
Lab test results	2

Genetic Landscape

STAT2 function has not been fully characterized.

Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection is associated with mutations in the STAT2 gene on chromosome 12.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

Genetic testing for STAT2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 always present features, 4 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection.

268 publications have been identified in PubMed for primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection. Research spans Epidemiology / Natural History (29%), Review / Meta-Analysis (20%), and Basic Science / Preclinical (16%).

Research Type	Count	% of Total
Disease patterns and progression	78

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 10:20 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:616636

Orphanet

European rare disease database

Orphanet:431166

GARD

Genetic and Rare Diseases Info Center

GARD:17711

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Kisho

primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications