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Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
Mendelian susceptibility to mycobacterial diseases (MSMD) due to partial IRF8 (interferon regulatory factor 8) deficiency is a rare genetic variant of MSMD (see this term) characterized by a selective susceptibility to relatively mild infections with bacillus Calmette-Guérin (BCG)..
ORPHA:319600Classification level: Disorder
- MSMD due to partial IRF8 deficiency
- MSMD due to partial interferon regulatory factor 8 deficiency
- Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal dominant
- Age of onset: Infancy, Neonatal
- ICD-10: D84.8
- OMIM: 614893
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
The prevalence is unknown. Only 2 cases in the world have been described to date.
The first infections occur after vaccination with BCG and before the age of 2. They are relatively mild with manifestations of fever and lymphadenopathy. No other infectious diseases have been reported.
MSMD due to a partial IRF8 deficiency is caused by heterozygous mutations in the IRF8 gene on chromosome 16q24.1 which encodes IRF8, a protein essential for the development of dendritic cells and the differentiation of macrophages and granulocytes. Mutations in the IRF8 gene impairs IL-12 secretion by monocytes and dendritic cells.
MSMD due to a partial IRF8 deficiency is inherited in an autosomal dominant manner so genetic counseling is possible.
- Summary information
- Polski (2013, pdf)