MCID: IMM086
MIFTS: 18

Immunodeficiency 31a, Mycobacteriosis, Autosomal Dominant

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

Aliases & Classifications for Immunodeficiency 31a, Mycobacteriosis, Autosomal Dominant

MalaCards integrated aliases for Immunodeficiency 31a, Mycobacteriosis, Autosomal Dominant:

Name: Immunodeficiency 31a, Mycobacteriosis, Autosomal Dominant 54 71
Immunodeficiency 31a 71 29 69
Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Signal Transducer and Activator of Transcription 1 Deficiency 56
Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Stat1 Deficiency 56
Msmd Due to Partial Signal Transducer and Activator of Transcription 1 Deficiency 56
Msmd Due to Partial Stat1 Deficiency 56
Stat1 Deficiency, Autosomal Dominant 71
Imd31a 71

Characteristics:

Orphanet epidemiological data:

56
mendelian susceptibility to mycobacterial diseases due to partial stat1 deficiency
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
onset in early childhood
infections may be triggered by bcg vaccination
incomplete penetrance


HPO:

32
immunodeficiency 31a, mycobacteriosis, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 56  
Rare immunological diseases


External Ids:

OMIM 54 614892
Orphanet 56 ORPHA319595
ICD10 via Orphanet 34 D84.8
MedGen 40 CN219205
SNOMED-CT via HPO 65 263681008 234532001

Summaries for Immunodeficiency 31a, Mycobacteriosis, Autosomal Dominant

UniProtKB/Swiss-Prot : 71 Immunodeficiency 31A: 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. IMD31A has low penetrance, and affected individuals have relatively mild disease and good prognosis. IMD31A confers a predisposition to mycobacterial infections only, with no increased susceptibility to viral infections.

MalaCards based summary : Immunodeficiency 31a, Mycobacteriosis, Autosomal Dominant, is also known as immunodeficiency 31a, and has symptoms including immunodeficiency An important gene associated with Immunodeficiency 31a, Mycobacteriosis, Autosomal Dominant is STAT1 (Signal Transducer And Activator Of Transcription 1).

OMIM : 54
IMD31A results from autosomal dominant (AD) STAT1 deficiency. STAT1 is crucial for cellular responses to IFNA (147660)/IFNB (147640) (type I interferon) and IFNG (147570) (type III interferon). AD STAT1 deficiency selectively affects the IFNG pathway, but not the IFNA/IFNB pathway. Unlike autosomal recessive (AR) STAT1 deficiency (IMD31B; 613796), which affects both the IFNA/IFNB and IFNG pathways, AD STAT1 deficiency confers a predisposition to mycobacterial infections only, with no increased susceptibility to viral infections. Pathogens reported in IMD31A patients include bacillus Calmette-Guerin (BCG) and Mycobacterium avium complex, as well as Mycobacterium tuberculosis. IMD31A has low penetrance and a mild clinical phenotype with good prognosis for recovery (review by Al-Muhsen and Casanova, 2008). (614892)

Related Diseases for Immunodeficiency 31a, Mycobacteriosis, Autosomal Dominant

Symptoms & Phenotypes for Immunodeficiency 31a, Mycobacteriosis, Autosomal Dominant

Symptoms via clinical synopsis from OMIM:

54

Immunology:
increased susceptibility to disseminated mycobacterial infections

Laboratory- Abnormalities:
poor immunologic response to gamma-interferon


Clinical features from OMIM:

614892

Human phenotypes related to Immunodeficiency 31a, Mycobacteriosis, Autosomal Dominant:

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

Drugs & Therapeutics for Immunodeficiency 31a, Mycobacteriosis, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 31a, Mycobacteriosis, Autosomal Dominant

Genetic Tests for Immunodeficiency 31a, Mycobacteriosis, Autosomal Dominant

Genetic tests related to Immunodeficiency 31a, Mycobacteriosis, Autosomal Dominant:

id Genetic test Affiliating Genes
1 Immunodeficiency 31a 29

Anatomical Context for Immunodeficiency 31a, Mycobacteriosis, Autosomal Dominant

Publications for Immunodeficiency 31a, Mycobacteriosis, Autosomal Dominant

Variations for Immunodeficiency 31a, Mycobacteriosis, Autosomal Dominant

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 31a, Mycobacteriosis, Autosomal Dominant:

71
id Symbol AA change Variation ID SNP ID
1 STAT1 p.Leu706Ser VAR_018266 rs137852677
2 STAT1 p.Glu320Gln VAR_065816 rs137852680
3 STAT1 p.Gln463His VAR_065817 rs137852679
4 STAT1 p.Lys637Glu VAR_068713 rs587777705
5 STAT1 p.Lys673Arg VAR_068714 rs587777704

ClinVar genetic disease variations for Immunodeficiency 31a, Mycobacteriosis, Autosomal Dominant:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 STAT1 NM_007315.3(STAT1): c.2117T> C (p.Leu706Ser) single nucleotide variant Pathogenic rs137852677 GRCh37 Chromosome 2, 191840556: 191840556
2 STAT1 NM_007315.3(STAT1): c.1389G> T (p.Gln463His) single nucleotide variant Pathogenic rs137852679 GRCh37 Chromosome 2, 191848425: 191848425
3 STAT1 NM_007315.3(STAT1): c.958G> C (p.Glu320Gln) single nucleotide variant Pathogenic rs137852680 GRCh37 Chromosome 2, 191856033: 191856033
4 STAT1 NM_007315.3(STAT1): c.2018A> G (p.Lys673Arg) single nucleotide variant Pathogenic rs587777704 GRCh37 Chromosome 2, 191841607: 191841607
5 STAT1 NM_007315.3(STAT1): c.1909A> G (p.Lys637Glu) single nucleotide variant Pathogenic rs587777705 GRCh37 Chromosome 2, 191841716: 191841716

Expression for Immunodeficiency 31a, Mycobacteriosis, Autosomal Dominant

Search GEO for disease gene expression data for Immunodeficiency 31a, Mycobacteriosis, Autosomal Dominant.

Pathways for Immunodeficiency 31a, Mycobacteriosis, Autosomal Dominant

GO Terms for Immunodeficiency 31a, Mycobacteriosis, Autosomal Dominant

Sources for Immunodeficiency 31a, Mycobacteriosis, Autosomal Dominant

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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