Аутосомно-рецесивна менделівська схильність до мікобактеріальних захворювань, зумовлена частковим дефіцитом JAK1

Визначення(English summary)

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.