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

Aliases & Descriptions for Immunodeficiency 29, Mycobacteriosis:

Name: Immunodeficiency 29, Mycobacteriosis 54 66
Immunodeficiency 29 54 66 29 69
Mendelian Susceptibility to Mycobacterial Diseases Due to Complete Interleukin 12b Deficiency 56
Mendelian Susceptibility to Mycobacterial Diseases Due to Complete Il12b Deficiency 56
Msmd Due to Complete Interleukin 12b Deficiency 56
Msmd Due to Complete Il12b Deficiency 56
Il12b Deficiency 66
Imd29 66

Characteristics:

Orphanet epidemiological data:

56
mendelian susceptibility to mycobacterial diseases due to complete il12b deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

Orphanet: 56  
Rare immunological diseases


External Ids:

OMIM 54 614890
Orphanet 56 ORPHA319558
ICD10 via Orphanet 34 D84.8
MedGen 40 CN219203

Summaries for Immunodeficiency 29, Mycobacteriosis

UniProtKB/Swiss-Prot : 66 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 : 54 IMD29 results from autosomal recessive IL12B deficiency and is characterized by undetectable IL12B secretion from... (614890) more...

Related Diseases for Immunodeficiency 29, Mycobacteriosis

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

id Related Disease Score Top Affiliating Genes
1 immunodeficiency 30 10.8

Symptoms & Phenotypes for Immunodeficiency 29, Mycobacteriosis

Clinical features from OMIM:

614890

Human phenotypes related to Immunodeficiency 29, Mycobacteriosis:

32
id Description HPO Frequency HPO Source Accession
1 immunodeficiency 32 HP:0002721

Drugs & Therapeutics for Immunodeficiency 29, Mycobacteriosis

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 29, Mycobacteriosis

Genetic Tests for Immunodeficiency 29, Mycobacteriosis

Genetic tests related to Immunodeficiency 29, Mycobacteriosis:

id Genetic test Affiliating Genes
1 Immunodeficiency 29 29

Anatomical Context for Immunodeficiency 29, Mycobacteriosis

Publications for Immunodeficiency 29, Mycobacteriosis

Variations for Immunodeficiency 29, Mycobacteriosis

ClinVar genetic disease variations for Immunodeficiency 29, Mycobacteriosis:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 IL12B NC_000005.10 deletion Pathogenic GRCh38 Chromosome 5, 159317671: 159322314
2 IL12B NM_002187.2(IL12B): c.320dupA (p.Glu108Glyfs) duplication Pathogenic rs587776807 GRCh38 Chromosome 5, 159323098: 159323098
3 IL12B NM_002187.2(IL12B): c.298_305delTCGCTCCT (p.Ser100Alafs) deletion Pathogenic rs786201006 GRCh38 Chromosome 5, 159323113: 159323120

Expression for Immunodeficiency 29, Mycobacteriosis

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

Pathways for Immunodeficiency 29, Mycobacteriosis

GO Terms for Immunodeficiency 29, Mycobacteriosis

Sources for Immunodeficiency 29, Mycobacteriosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....