Immunodeficiency 69 (IMD69)

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Disease Ontology 12 DOID:0112006 OMIM® 57 618963 OMIM Phenotypic Series 57 PS300755

MeSH 44 D007153 D009164 MedGen 41 CN283304 SNOMED-CT via HPO 68 111583006 112625008 127034005 16294009 165397008 258211005 267060006 271737000 271807003 36440009 36760000 386661006 415115007 432788009 50177009 62315008 6631009 more

UniProtKB/Swiss-Prot : ⁷³ Immunodeficiency 69: A form of Mendelian susceptibility to mycobacterial disease, a rare condition caused by impairment of interferon-gamma mediated immunity. It is characterized by predisposition to illness caused by moderately virulent mycobacterial species, such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis. Other microorganisms rarely cause severe clinical disease in individuals with susceptibility to mycobacterial infections. Clinical outcome severity depends on the degree of impairment of interferon-gamma mediated immunity. IMD69 is an autosomal recessive disorder manifesting with fever, hepatosplenomegaly, leukocytosis, and thrombocytosis during the acute infection.

MalaCards based summary : Immunodeficiency 69, is also known as imd69. An important gene associated with Immunodeficiency 69 is IFNG (Interferon Gamma). Affiliated tissues include nk cells and liver, and related phenotypes are fever and anemia

Disease Ontology : ¹² A T cell and NK cell immunodeficiency characterized by increased susceptibility to disseminated mycobacterial infection and failure of T and NK cells to produce gamma-interferon when stimulated in vitro that has material basis in homozygous or compound heterozygous mutation in IFNG on chromosome 12q15.

OMIM® : ⁵⁷ 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 (summary by Kerner et al., 2020). IMD69 is a form of mendelian susceptibility to mycobacterial disease (MSMD) (see, e.g., IMD27A; 209950). (618963) (Updated 05-Mar-2021)

Clinical features from OMIM®:

618963 (Updated 05-Mar-2021)

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 69

Search GEO for disease gene expression data for Immunodeficiency 69.