IMD29
MCID: IMM089
MIFTS: 16

Immunodeficiency 29, Mycobacteriosis (IMD29) malady

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

Aliases & Classifications for Immunodeficiency 29, Mycobacteriosis

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Sources:
27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 52OMIM, 54Orphanet, 68UMLS, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Immunodeficiency 29, Mycobacteriosis:

Name: Immunodeficiency 29, Mycobacteriosis 52 70
Immunodeficiency 29 52 70 27 68
Mendelian Susceptibility to Mycobacterial Diseases Due to Complete Interleukin 12b Deficiency 54
Mendelian Susceptibility to Mycobacterial Diseases Due to Complete Il12b Deficiency 54
 
Msmd Due to Complete Interleukin 12b Deficiency 54
Msmd Due to Complete Il12b Deficiency 54
Il12b Deficiency 70
Imd29 70

Characteristics:

Orphanet epidemiological data:

54
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:

OMIM52 614890
Orphanet54 ORPHA319558
ICD10 via Orphanet31 D84.8
MedGen37 CN219203

Summaries for Immunodeficiency 29, Mycobacteriosis

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UniProtKB/Swiss-Prot:70 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:52 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 & Phenotypes for Immunodeficiency 29, Mycobacteriosis

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Clinical features from OMIM:

614890

Human phenotypes related to Immunodeficiency 29, Mycobacteriosis:

 64
id Description HPO Frequency HPO Source Accession
1 immunodeficiency64 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 2927

Anatomical Context for Immunodeficiency 29, Mycobacteriosis

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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_ 000005.10: g.(159317671_ 159317673)_ (159322312_ 159322314)deldeletionPathogenicGRCh38Chr 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
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet