immunodeficiency 88
An autosomal recessive immune disorder characterized specifically by the development of disseminated mycobacterial disease following vaccination with BCG. The single patient described did not develop other clinical infectious diseases, although serology documented exposure to various viruses and bacteria. Immunologic workup shows defective development of certain innate immunologic cells and decreased production of gamma-interferon (IFNG). Additional manifestations include persistent reactive airway disease associated with increased production of Th2 cytokines.
MONDO:0021094
immunodeficiency disease
is_a
IMD88
exact
Mendelian susceptibility to mycobacterial diseases due to TBX21 deficiency
exact