MCID: IMM089
MIFTS: 16

Immunodeficiency 29, Mycobacteriosis malady

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

Aliases & Classifications for Immunodeficiency 29, Mycobacteriosis

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Sources:
26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 51OMIM, 53Orphanet, 67UMLS, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Immunodeficiency 29, Mycobacteriosis:

Name: Immunodeficiency 29, Mycobacteriosis 51 69
Immunodeficiency 29 51 69 26 67
Mendelian Susceptibility to Mycobacterial Diseases Due to Complete Interleukin 12b Deficiency 53
Mendelian Susceptibility to Mycobacterial Diseases Due to Complete Il12b Deficiency 53
 
Msmd Due to Complete Interleukin 12b Deficiency 53
Msmd Due to Complete Il12b Deficiency 53
Il12b Deficiency 69
Imd29 69

Characteristics:

Orphanet epidemiological data:

53
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:

OMIM51 614890
Orphanet53 ORPHA319558
ICD10 via Orphanet30 D84.8
MedGen36 CN219203

Summaries for Immunodeficiency 29, Mycobacteriosis

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UniProtKB/Swiss-Prot:69 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:51 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 3010.8

Symptoms for Immunodeficiency 29, Mycobacteriosis

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Clinical features from OMIM:

614890

Human phenotypes related to Immunodeficiency 29, Mycobacteriosis:

 63
id Description HPO Frequency HPO Source Accession
1 immunodeficiency63 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 2926

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
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet