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Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete ISG15 deficiency is a genetic variant of MSMD characterized by Bacille Calmette-GuC)rin (BCG) infections.
Organ System | Phenotype Count | Example Features |
|---|---|---|
Blood and immune system | 3 | Recurrent mycobacterial infections, Recurrent viral infections, Immunodeficiency |
Brain and nerves | 1 | Seizure |
ISG15 encodes ISG15 ubiquitin like modifier (165 aa). Ubiquitin-like protein which plays a key role in the innate immune response to viral infection either via its conjugation to a target protein (ISGylation) or via its action as a free or unconjugated protein. Highest expression in Cells EBV-transformed lymphocytes (611.5 TPM) and Lung (66.9 TPM).
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency is associated with mutations in the ISG15 gene on chromosome 1.
ISG15 is classified as a druggable target (Druggable Genome and Enzyme categories) with score 0.8.
Genetic testing for ISG15 is available. Testing is considered confirmatory for diagnosis.
Biomarker and diagnostic research for Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency has been reported in the published literature.
Phenotype severity distribution: 2 always present features, 5 common features.
Estimated prevalence: <1 in 1,000,000 (VERY_RARE).
No clinical trials have been registered for Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency.
115 publications have been identified in PubMed for Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency. Research spans Epidemiology / Natural History (35%), Review / Meta-Analysis (33%), and Basic Science / Preclinical (11%).
Research Type | Count | % of Total |
|---|---|---|
Disease patterns and progression | 40 | 35% |
Research summaries | 38 | 33% |
Laboratory research | 13 | 11% |
Clinical study results | 9 | 8% |
Patient case studies | 8 | 7% |
Testing and diagnosis research | 5 | 4% |
Other research | 1 | 1% |
New treatment approaches | 1 | 1% |
Harman E (2026). [PMID: 41510925](https://pubmed.ncbi.nlm.nih.gov/41510925/). *Allergol Immunopathol (Madr)*. [Epidemiology / Natural History]
Kumari R (2026). [PMID: 42146961](https://pubmed.ncbi.nlm.nih.gov/42146961/). *Rom J Ophthalmol*. [Review / Meta-Analysis]
Luo Z (2026). [PMID: 41702638](https://pubmed.ncbi.nlm.nih.gov/41702638/). *BMJ Glob Health*. [Review / Meta-Analysis]
Flavell CA (2026). [PMID: 41784039](https://pubmed.ncbi.nlm.nih.gov/41784039/). *HIV Med*. [Epidemiology / Natural History]
Faria F (2025). [PMID: 40643560](https://pubmed.ncbi.nlm.nih.gov/40643560/). *Cancer Epidemiol Biomarkers Prev*. [Diagnostic / Biomarker]
Stadler JAM (2025). [PMID: 40342012](https://pubmed.ncbi.nlm.nih.gov/40342012/). *Clin Infect Dis*. [Epidemiology / Natural History]
Ferrand RA (2025). [PMID: 40555749](https://pubmed.ncbi.nlm.nih.gov/40555749/). *Nat Med*. [Clinical Trial Publication]
Stabler AV (2025). [PMID: 39911096](https://pubmed.ncbi.nlm.nih.gov/39911096/). *J Pharm Pract*. [Review / Meta-Analysis]
Fang M (2025). [PMID: 40217459](https://pubmed.ncbi.nlm.nih.gov/40217459/). *BMC Infect Dis*. [Case Report / Case Series]
Bagheri-Josheghani S (2025). [PMID: 40523567](https://pubmed.ncbi.nlm.nih.gov/40523567/). *Microb Pathog*. [Review / Meta-Analysis]
Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 9:36 PM UTC
Online Mendelian Inheritance in Man
European rare disease database
Common questions about Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency