MCID: IMM089
MIFTS: 17

Immunodeficiency 29, Mycobacteriosis malady

Categories: Genetic diseases, Blood diseases, Rare diseases, Immune diseases

Aliases & Classifications for Immunodeficiency 29, Mycobacteriosis

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Sources:
50OMIM, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 66UMLS, 29ICD10 via Orphanet, 35MedGen, 37MeSH
See all MalaCards sources

Aliases & Descriptions for Immunodeficiency 29, Mycobacteriosis:

Name: Immunodeficiency 29, Mycobacteriosis 50 68
Immunodeficiency 29 50 68 25 66
Mendelian Susceptibility to Mycobacterial Diseases Due to Complete Interleukin 12b Deficiency 52
Mendelian Susceptibility to Mycobacterial Diseases Due to Complete Il12b Deficiency 52
 
Msmd Due to Complete Interleukin 12b Deficiency 52
Msmd Due to Complete Il12b Deficiency 52
Il12b Deficiency 68
Imd29 68

Characteristics:

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

Classifications:



External Ids:

OMIM50 614890
Orphanet52 ORPHA319558
ICD10 via Orphanet29 D84.8
MedGen35 CN219203

Summaries for Immunodeficiency 29, Mycobacteriosis

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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...

Related Diseases for Immunodeficiency 29, Mycobacteriosis

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Diseases related to Immunodeficiency 29, Mycobacteriosis via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1immunodeficiency 3010.0

Symptoms for Immunodeficiency 29, Mycobacteriosis

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Clinical features from OMIM:

614890

HPO human phenotypes related to Immunodeficiency 29, Mycobacteriosis:

id Description Frequency HPO Source Accession
1 immunodeficiency HP:0002721

Drugs & Therapeutics for Immunodeficiency 29, Mycobacteriosis

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Immunodeficiency 29, Mycobacteriosis

Genetic Tests for Immunodeficiency 29, Mycobacteriosis

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Genetic tests related to Immunodeficiency 29, Mycobacteriosis:

id Genetic test Affiliating Genes
1 Immunodeficiency 2925

Anatomical Context for Immunodeficiency 29, Mycobacteriosis

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Animal Models for Immunodeficiency 29, Mycobacteriosis or affiliated genes

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Publications for Immunodeficiency 29, Mycobacteriosis

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Variations for Immunodeficiency 29, Mycobacteriosis

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Clinvar genetic disease variations for Immunodeficiency 29, Mycobacteriosis:

5
id Gene Variation Type Significance SNP ID Assembly Location
1IL12BNC_000005.10deletionPathogenicGRCh38Chr 5, 159317671: 159322314
2IL12BNM_002187.2(IL12B): c.320dupA (p.Glu108Glyfs)duplicationPathogenicrs587776807GRCh38Chr 5, 159323098: 159323098
3IL12BNM_002187.2(IL12B): c.298_305delTCGCTCCT (p.Ser100Alafs)deletionPathogenicrs786201006GRCh38Chr 5, 159323113: 159323120

Expression for genes affiliated with Immunodeficiency 29, Mycobacteriosis

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Search GEO for disease gene expression data for Immunodeficiency 29, Mycobacteriosis.

Pathways for genes affiliated with Immunodeficiency 29, Mycobacteriosis

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GO Terms for genes affiliated with Immunodeficiency 29, Mycobacteriosis

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Sources for Immunodeficiency 29, Mycobacteriosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet