Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency
ORPHA:574957· ICD-10 D84.8
Definition
A rare primary immunodeficiency characterized by recurrent atypical mycobacterial infections, accompanied by relatively minor viral infections, on an immunological background of reduced induction of expression of interferon-regulated genes and dysregulated cytokine production, as revealed by laboratory studies. Global developmental delay and occurrence of non-hematopoietic malignancy at a young age have been reported in association.
- Prevalence
- Unknown
- Inheritance
- Autosomal recessive
- Age of onset
- All ages