Information on MSMD17
Name: Mendelian Susceptibility to mycobacterial disease 17 | Acronym: MSMD17
Alt. names: Immunodeficiency 69, mycobacteriosis | IMD69
Gene: IFNG | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2020
Last updated on: 2023-02-28 by Andrés Caballero-Oteyza
Description
At least 2 patients have been reported with this condition (PMID:32163377). It is characterized by increased susceptibility to disseminated mycobacterial infection, including after BCG (bacille Calmette-Guerin) vaccination. Affected individuals develop fever, hepatosplenomegaly, leukocytosis, and thrombocytosis during the acute infection. There appears to be normal immunologic function against other pathogens, including viruses and bacteria. Immunologic work-up shows normal parameters, but patient T and NK cells fail to produce gamma-interferon (IFNG) when stimulated in vitro (summary by Kerner et al., 2020).[OMIM]
Management
Description of management option has not been reviewed yet.
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Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical phenotype | Present | Absent | Unreported |
|---|---|---|---|---|
| 1 | Anemia |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Fever |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Hepatosplenomegaly |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 4 | Infantile onset |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Leukocytosis |
2 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | BCGitis |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 7 | BCGosis |
1 (50.0%) | 0 (0.0%) | 1 (50.0%) |
| 8 | Hemophagocytosis |
0 (0.0%) | 0 (0.0%) | 1 (99.9%) |
Age of onset
distribution
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Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
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0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|
AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).