Immunodeficiency 69

Alternative Names

  • IMD69
  • Immunodeficiency 69, Mycobacteriosis, Autosomal Recessive
  • IFNG Deficiency, Autosomal Recessive

Associated Genes

Interferon, Gamma
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WHO-ICD-10 version:2010

Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism

Certain disorders involving the immune mechanism

OMIM Number

618963

Gene Map Locus

12q15

Description

Immunodeficiency-69 (IMD69) is an autosomal recessive disorder characterized by increased susceptibility to disseminated mycobacterial infection, including after BCG (bacille Calmette-Guerin) vaccination. Affected individuals develop fever, hepatosplenomegaly, leukocytosis, and thrombocytosis during the acute infection. There appears to be normal immunologic function against other pathogens, including viruses and bacteria. Immunologic work-up shows normal parameters, but patient T and NK cells fail to produce gamma-interferon (IFNG) when stimulated in vitro . IMD69 is a form of mendelian susceptibility to mycobacterial disease (MSMD). [From OMIM]

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
618963.1.1LebanonFemaleYesYes BCGosis; Hepatosplenomegaly; Maculopapul...NM_000619.3:c.354_357delHomozygousAutosomal, RecessiveKerner et al. 2020
618963.1.2LebanonFemaleYesYes BCGosis; Hepatosplenomegaly; AnemiaNM_000619.3:c.354_357delHomozygousAutosomal, RecessiveKerner et al. 2020 First degree cousin ...
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