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GTR Home > Conditions/Phenotypes > Immunodeficiency 118

Immunodeficiency 118

Synonyms
IMMUNODEFICIENCY 118, MYCOBACTERIOSIS, X-LINKED RECESSIVE; Immunodeficiency 118, mycobacteriosis

Summary

X-linked recessive immunodeficiency-118 (IMD118) is characterized by increased susceptibility to the development of disseminated mycobacterial infections in infancy, notably after BCG vaccination. Affected males usually recover with treatment, have no other infections, and show normal growth and development. Immunologic workup shows normal numbers of circulating leukocyte subsets, but functional studies show impaired JAK2 (147796) translation in certain T lymphocytes, resulting in defective IL23 (see 605580)-dependent induction of IFNG (147570) production and secretion from other immune cells (Bohlen et al., 2023). [from OMIM]

Genes See tests for all associated and related genes

  • Also known as: IMD118, MCT-1, MCT1, MCTS1
    Summary: MCTS1 re-initiation and release factor

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