OMIM®:
57
Immunodeficiency-88 (IMD88) is 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; 147570). Additional manifestations include persistent reactive airway disease associated with increased production of Th2 cytokines (summary by Yang et al., 2020 and Yang et al., 2021). (619630) (Updated 08-Dec-2022)
MalaCards based summary:
Immunodeficiency 88, is also known as immunodeficiency 88, mycobacteriosis, autosomal recessive. An important gene associated with Immunodeficiency 88 is TBX21 (T-Box Transcription Factor 21). Affiliated tissues include nk cells, and related phenotypes are asthma and eosinophilia
UniProtKB/Swiss-Prot:
73
An autosomal recessive disorder characterized by the development of disseminated mycobacterial disease following vaccination with BCG. Clinical features included fever, lymphadenopathy, and cutaneous eruption.
