MCID: IMM182
MIFTS: 18

Immunodeficiency 31a

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

Aliases & Classifications for Immunodeficiency 31a

MalaCards integrated aliases for Immunodeficiency 31a:

Name: Immunodeficiency 31a 57 75 29 6 73
Immunodeficiency 31a, Mycobacteriosis, Autosomal Dominant 57 75
Stat1 Deficiency, Autosomal Dominant 57 75
Imd31a 57 75
Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Signal Transducer and Activator of Transcription 1 Deficiency 59
Mendelian Susceptibility to Mycobacterial Diseases Due to Partial Stat1 Deficiency 59
Msmd Due to Partial Signal Transducer and Activator of Transcription 1 Deficiency 59
Immunodeficiency, Type 31a, Mycobacteriosis, Autosomal Dominant 40
Msmd Due to Partial Stat1 Deficiency 59

Characteristics:

Orphanet epidemiological data:

59
mendelian susceptibility to mycobacterial diseases due to partial stat1 deficiency
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
immunodeficiency 31a:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 614892
Orphanet 59 ORPHA319595
ICD10 via Orphanet 34 D84.8
SNOMED-CT via HPO 69 263681008 234532001
UMLS 73 C4013950

Summaries for Immunodeficiency 31a

UniProtKB/Swiss-Prot : 75 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, is also known as immunodeficiency 31a, mycobacteriosis, autosomal dominant. An important gene associated with Immunodeficiency 31a is STAT1 (Signal Transducer And Activator Of Transcription 1). Related phenotype is immunodeficiency.

OMIM : 57 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. 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). Two patients with heterozygous STAT1 mutations have been reported with increased susceptibility to adult-onset herpes simplex encephalitis (HSE) without a history of other significant infections (Mork et al., 2015). (614892)

Related Diseases for Immunodeficiency 31a

Symptoms & Phenotypes for Immunodeficiency 31a

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
herpes simplex encephalitis

Laboratory Abnormalities:
poor immunologic response to gamma-interferon

Immunology:
increased susceptibility to disseminated mycobacterial infections
increased susceptibility to herpes simplex encephalitis


Clinical features from OMIM:

614892

Human phenotypes related to Immunodeficiency 31a:

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

Drugs & Therapeutics for Immunodeficiency 31a

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 31a

Genetic Tests for Immunodeficiency 31a

Genetic tests related to Immunodeficiency 31a:

# Genetic test Affiliating Genes
1 Immunodeficiency 31a 29 STAT1

Anatomical Context for Immunodeficiency 31a

Publications for Immunodeficiency 31a

Variations for Immunodeficiency 31a

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 31a:

75
# 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:

6
(show all 50)
# 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.2117T> C (p.Leu706Ser) single nucleotide variant Pathogenic rs137852677 GRCh38 Chromosome 2, 190975830: 190975830
3 STAT1 NM_007315.3(STAT1): c.1389G> T (p.Gln463His) single nucleotide variant Pathogenic rs137852679 GRCh37 Chromosome 2, 191848425: 191848425
4 STAT1 NM_007315.3(STAT1): c.1389G> T (p.Gln463His) single nucleotide variant Pathogenic rs137852679 GRCh38 Chromosome 2, 190983699: 190983699
5 STAT1 NM_007315.3(STAT1): c.958G> C (p.Glu320Gln) single nucleotide variant Pathogenic rs137852680 GRCh37 Chromosome 2, 191856033: 191856033
6 STAT1 NM_007315.3(STAT1): c.958G> C (p.Glu320Gln) single nucleotide variant Pathogenic rs137852680 GRCh38 Chromosome 2, 190991307: 190991307
7 STAT1 NM_007315.3(STAT1): c.2018A> G (p.Lys673Arg) single nucleotide variant Pathogenic rs587777704 GRCh37 Chromosome 2, 191841607: 191841607
8 STAT1 NM_007315.3(STAT1): c.2018A> G (p.Lys673Arg) single nucleotide variant Pathogenic rs587777704 GRCh38 Chromosome 2, 190976881: 190976881
9 STAT1 NM_007315.3(STAT1): c.1909A> G (p.Lys637Glu) single nucleotide variant Pathogenic rs587777705 GRCh37 Chromosome 2, 191841716: 191841716
10 STAT1 NM_007315.3(STAT1): c.1909A> G (p.Lys637Glu) single nucleotide variant Pathogenic rs587777705 GRCh38 Chromosome 2, 190976990: 190976990
11 STAT1 NM_007315.3(STAT1): c.1097+10C> G single nucleotide variant Benign/Likely benign rs41488044 GRCh37 Chromosome 2, 191854331: 191854331
12 STAT1 NM_007315.3(STAT1): c.1097+10C> G single nucleotide variant Benign/Likely benign rs41488044 GRCh38 Chromosome 2, 190989605: 190989605
13 STAT1 NM_007315.3(STAT1): c.633+6T> A single nucleotide variant Benign/Likely benign rs45459703 GRCh37 Chromosome 2, 191862937: 191862937
14 STAT1 NM_007315.3(STAT1): c.633+6T> A single nucleotide variant Benign/Likely benign rs45459703 GRCh38 Chromosome 2, 190998211: 190998211
15 STAT1 NM_007315.3(STAT1): c.1155G> A (p.Thr385=) single nucleotide variant Benign/Likely benign rs41270237 GRCh38 Chromosome 2, 190986920: 190986920
16 STAT1 NM_007315.3(STAT1): c.1155G> A (p.Thr385=) single nucleotide variant Benign/Likely benign rs41270237 GRCh37 Chromosome 2, 191851646: 191851646
17 STAT1 NM_007315.3(STAT1): c.796G> A (p.Val266Ile) single nucleotide variant Likely benign rs41473544 GRCh37 Chromosome 2, 191859935: 191859935
18 STAT1 NM_007315.3(STAT1): c.796G> A (p.Val266Ile) single nucleotide variant Likely benign rs41473544 GRCh38 Chromosome 2, 190995209: 190995209
19 STAT1 NM_007315.3(STAT1): c.1866C> T (p.Asn622=) single nucleotide variant Likely benign rs112108750 GRCh38 Chromosome 2, 190978863: 190978863
20 STAT1 NM_007315.3(STAT1): c.1866C> T (p.Asn622=) single nucleotide variant Likely benign rs112108750 GRCh37 Chromosome 2, 191843589: 191843589
21 STAT1 NM_007315.3(STAT1): c.1263+7G> A single nucleotide variant Likely benign rs56228116 GRCh38 Chromosome 2, 190985612: 190985612
22 STAT1 NM_007315.3(STAT1): c.1263+7G> A single nucleotide variant Likely benign rs56228116 GRCh37 Chromosome 2, 191850338: 191850338
23 STAT1 NM_007315.3(STAT1): c.1116T> C (p.Asn372=) single nucleotide variant Benign/Likely benign rs55891000 GRCh37 Chromosome 2, 191851776: 191851776
24 STAT1 NM_007315.3(STAT1): c.1116T> C (p.Asn372=) single nucleotide variant Benign/Likely benign rs55891000 GRCh38 Chromosome 2, 190987050: 190987050
25 STAT1 NM_007315.3(STAT1): c.990G> A (p.Gln330=) single nucleotide variant Benign/Likely benign rs41509946 GRCh37 Chromosome 2, 191856001: 191856001
26 STAT1 NM_007315.3(STAT1): c.990G> A (p.Gln330=) single nucleotide variant Benign/Likely benign rs41509946 GRCh38 Chromosome 2, 190991275: 190991275
27 STAT1 NM_007315.3(STAT1): c.2136T> G (p.Val712=) single nucleotide variant Benign rs35364817 GRCh38 Chromosome 2, 190974932: 190974932
28 STAT1 NM_007315.3(STAT1): c.2136T> G (p.Val712=) single nucleotide variant Benign rs35364817 GRCh37 Chromosome 2, 191839658: 191839658
29 STAT1 NM_007315.3(STAT1): c.870A> G (p.Glu290=) single nucleotide variant Likely benign rs767586956 GRCh38 Chromosome 2, 190995135: 190995135
30 STAT1 NM_007315.3(STAT1): c.870A> G (p.Glu290=) single nucleotide variant Likely benign rs767586956 GRCh37 Chromosome 2, 191859861: 191859861
31 STAT1 NM_007315.3(STAT1): c.2019A> G (p.Lys673=) single nucleotide variant Benign rs35098579 GRCh37 Chromosome 2, 191841606: 191841606
32 STAT1 NM_007315.3(STAT1): c.2019A> G (p.Lys673=) single nucleotide variant Benign rs35098579 GRCh38 Chromosome 2, 190976880: 190976880
33 STAT1 NM_007315.3(STAT1): c.1127+4C> T single nucleotide variant Uncertain significance rs372508550 GRCh38 Chromosome 2, 190987035: 190987035
34 STAT1 NM_007315.3(STAT1): c.1127+4C> T single nucleotide variant Uncertain significance rs372508550 GRCh37 Chromosome 2, 191851761: 191851761
35 STAT1 NM_007315.3(STAT1): c.1257G> A (p.Thr419=) single nucleotide variant Benign rs73979321 GRCh37 Chromosome 2, 191850351: 191850351
36 STAT1 NM_007315.3(STAT1): c.1257G> A (p.Thr419=) single nucleotide variant Benign rs73979321 GRCh38 Chromosome 2, 190985625: 190985625
37 STAT1 NM_007315.3(STAT1): c.463-8G> C single nucleotide variant Benign rs2066794 GRCh37 Chromosome 2, 191864438: 191864438
38 STAT1 NM_007315.3(STAT1): c.463-8G> C single nucleotide variant Benign rs2066794 GRCh38 Chromosome 2, 190999712: 190999712
39 STAT1 NM_007315.3(STAT1): c.1098-5dup duplication Benign GRCh38 Chromosome 2, 190987073: 190987073
40 STAT1 NM_007315.3(STAT1): c.1098-5dup duplication Benign GRCh37 Chromosome 2, 191851799: 191851799
41 STAT1 NM_007315.3(STAT1): c.866A> G (p.Tyr289Cys) single nucleotide variant Likely pathogenic GRCh38 Chromosome 2, 190995139: 190995139
42 STAT1 NM_007315.3(STAT1): c.866A> G (p.Tyr289Cys) single nucleotide variant Likely pathogenic GRCh37 Chromosome 2, 191859865: 191859865
43 STAT1 NM_007315.3(STAT1): c.1059G> A (p.Glu353=) single nucleotide variant Likely benign rs371279547 GRCh37 Chromosome 2, 191854379: 191854379
44 STAT1 NM_007315.3(STAT1): c.1059G> A (p.Glu353=) single nucleotide variant Likely benign rs371279547 GRCh38 Chromosome 2, 190989653: 190989653
45 STAT1 NM_007315.3(STAT1): c.825G> A (p.Gln275=) single nucleotide variant Likely benign rs61756197 GRCh38 Chromosome 2, 190995180: 190995180
46 STAT1 NM_007315.3(STAT1): c.825G> A (p.Gln275=) single nucleotide variant Likely benign rs61756197 GRCh37 Chromosome 2, 191859906: 191859906
47 STAT1 NM_007315.3(STAT1): c.1371G> A (p.Val457=) single nucleotide variant Likely benign rs144704615 GRCh38 Chromosome 2, 190983717: 190983717
48 STAT1 NM_007315.3(STAT1): c.1371G> A (p.Val457=) single nucleotide variant Likely benign rs144704615 GRCh37 Chromosome 2, 191848443: 191848443
49 STAT1 NM_007315.3(STAT1): c.793A> G (p.Ile265Val) single nucleotide variant Benign rs148775168 GRCh38 Chromosome 2, 190995212: 190995212
50 STAT1 NM_007315.3(STAT1): c.793A> G (p.Ile265Val) single nucleotide variant Benign rs148775168 GRCh37 Chromosome 2, 191859938: 191859938

Expression for Immunodeficiency 31a

Search GEO for disease gene expression data for Immunodeficiency 31a.

Pathways for Immunodeficiency 31a

GO Terms for Immunodeficiency 31a

Sources for Immunodeficiency 31a

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45 MESH via Orphanet
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58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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