| Mendelian susceptibility to mycobacterial disease due to complete interferon stimulated gene 15 deficiency (disorder) |
| Mendelian susceptibility to mycobacterial disease due to complete ISG15 deficiency |
| Mendelian susceptibility to mycobacterial disease due to complete interferon stimulated gene 15 deficiency
Mendelian susceptibility to mycobacterial disease due to complete ISG15 (interferon stimulated gene 15) deficiency
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| A genetic variant of mendelian susceptibility to mycobacterial diseases characterized by Bacille Calmette-Guerin (BCG) infections. The prevalence is unknown. Caused by mutations in the ISG15 gene (1p36.33), which encodes an IFN-alpha/beta inducible, ubiquitin-like intracellular protein. These mutations impair ISG15 secretion by leukocytes, a molecule which plays an essential role as an IFN-gamma-inducing secreted molecule needed for optimal antimycobacterial immunity. Inherited in an autosomal recessive manner. |
| mendeliaanse gevoeligheid voor mycobacteriële ziekte door volledige ISG15-deficiëntie |
| 'Mendelian susceptibility to mycobacterial disease' door volledige deficiëntie van 'interferon stimulated gene 15'
MSMD door volledige ISG15-deficiëntie
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