Immunodeficiency 29, Mycobacteriosis malady
Categories: Genetic diseases, Blood diseases, Rare diseases, Immune diseases
Aliases & Descriptions for Immunodeficiency 29, Mycobacteriosis:
Orphanet epidemiological data:52
mendelian susceptibility to mycobacterial diseases due to complete interleukin 12b deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy
Global: Genetic diseases, Rare diseases
Anatomical: Blood diseases, Immune diseases
Rare immunological diseases
UniProtKB/Swiss-Prot:68 Immunodeficiency 29: 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, with the exception of Salmonella which infects less than 50% of these individuals. Clinical outcome severity depends on the degree of impairment of interferon-gamma mediated immunity. Some patients die of overwhelming mycobacterial disease with lepromatous-like lesions in early childhood, whereas others develop, later in life, disseminated but curable infections with tuberculoid granulomas. IMD29 is characterized by undetectable IL12B secretion from leukocytes. Affected individuals generally present with BCG disease after vaccination in childhood, and at least half also have Salmonella infection. Disease phenotype is relatively mild, and patients have a good prognosis.
MalaCards based summary: Immunodeficiency 29, Mycobacteriosis, also known as immunodeficiency 29, is related to immunodeficiency 30, and has symptoms including immunodeficiency An important gene associated with Immunodeficiency 29, Mycobacteriosis is IL12B (Interleukin 12B).
OMIM:50 IMD29 results from autosomal recessive IL12B deficiency and is characterized by undetectable IL12B secretion from... (614890) more...
Diseases related to Immunodeficiency 29, Mycobacteriosis via text searches within MalaCards or GeneCards Suite gene sharing:
Genetic tests related to Immunodeficiency 29, Mycobacteriosis:
Clinvar genetic disease variations for Immunodeficiency 29, Mycobacteriosis:5
Search GEO for disease gene expression data for Immunodeficiency 29, Mycobacteriosis.
29ICD10 via Orphanet
38MESH via Orphanet
51OMIM via Orphanet
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
67UMLS via Orphanet