IMD31B
MCID: IMM178
MIFTS: 26

Immunodeficiency 31b (IMD31B)

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

Aliases & Classifications for Immunodeficiency 31b

MalaCards integrated aliases for Immunodeficiency 31b:

Name: Immunodeficiency 31b 56 73 71
Mycobacterial and Viral Infections, Susceptibility to, Autosomal Recessive 29 13 6
Immunodeficiency 31b, Mycobacterial and Viral Infections, Autosomal Recessive 56 73
Imd31b 56 73
Immunodeficiency, Type 31b, Mycobacterial and Viral Infections, Autosomal Recessive 39
Autosomal Recessive Susceptibility to Mycobacterial and Viral Infections 73
Mycobacterial and Viral Infections Due to Complete Stat1 Deficiency 73
Susceptibility to Viral and Mycobacterial Infections 58
Stat1 Deficiency, Autosomal Recessive 56
Autosomal Recessive Stat1 Deficiency 73
Stat1 Deficiency 58

Characteristics:

Orphanet epidemiological data:

58
susceptibility to viral and mycobacterial infections
Inheritance: Autosomal recessive;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood
may be fatal
patients may develop disseminated disease after bcg vaccination
patients may respond well to treatment with gamma-interferon


HPO:

31
immunodeficiency 31b:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

OMIM 56 613796
OMIM Phenotypic Series 56 PS300755
MeSH 43 D007153
ICD10 via Orphanet 33 D84.8
Orphanet 58 ORPHA391311
MedGen 41 C3151088
SNOMED-CT via HPO 68 258211005 428638009
UMLS 71 C3151088

Summaries for Immunodeficiency 31b

OMIM : 56 IMD31B results from autosomal recessive (AR) STAT1 deficiency. STAT1 is crucial for cellular responses to IFNA (147660)/IFNB (147640) (type I interferon) and IFNG (147570) (type III interferon). AR STAT1 deficiency affects both the IFNA/IFNB and the IFNG pathways, resulting in susceptibility to mycobacteria, Salmonella, and viruses, with a severe disease course and often fatal outcome (review by Al-Muhsen and Casanova, 2008). (613796)

MalaCards based summary : Immunodeficiency 31b, also known as mycobacterial and viral infections, susceptibility to, autosomal recessive, is related to immunodeficiency 31a and viral infectious disease. An important gene associated with Immunodeficiency 31b is STAT1 (Signal Transducer And Activator Of Transcription 1). Related phenotypes are recurrent viral infections and recurrent mycobacterial infections

UniProtKB/Swiss-Prot : 73 Immunodeficiency 31B: A disorder characterized by susceptibility to severe mycobacterial and viral infections. Affected individuals can develop disseminated infections and die of viral illness.

Related Diseases for Immunodeficiency 31b

Diseases related to Immunodeficiency 31b via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency 31a 12.2
2 viral infectious disease 10.0
3 immune deficiency disease 9.8
4 myocardial infarction 9.8
5 graft-versus-host disease 9.8
6 osteomyelitis 9.8
7 thrombotic thrombocytopenic purpura 9.8
8 lyme disease 9.8
9 purpura 9.8
10 keratoconjunctivitis 9.8
11 acute graft versus host disease 9.8
12 lymphedema 9.8

Graphical network of the top 20 diseases related to Immunodeficiency 31b:



Diseases related to Immunodeficiency 31b

Symptoms & Phenotypes for Immunodeficiency 31b

Human phenotypes related to Immunodeficiency 31b:

31
# Description HPO Frequency HPO Source Accession
1 recurrent viral infections 31 HP:0004429
2 recurrent mycobacterial infections 31 HP:0011274
3 herpes simplex encephalitis 31 HP:0012302

Symptoms via clinical synopsis from OMIM:

56
Immunology:
increased susceptibility to mycobacterial infections
increased susceptibility to viral infections
poor il12, gamma-interferon, and tnf-alpha production
impaired response to alpha-, beta-, and gamma-interferon

Clinical features from OMIM:

613796

Drugs & Therapeutics for Immunodeficiency 31b

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 31b

Genetic Tests for Immunodeficiency 31b

Genetic tests related to Immunodeficiency 31b:

# Genetic test Affiliating Genes
1 Mycobacterial and Viral Infections, Susceptibility to, Autosomal Recessive 29 STAT1

Anatomical Context for Immunodeficiency 31b

Publications for Immunodeficiency 31b

Articles related to Immunodeficiency 31b:

# Title Authors PMID Year
1
A novel form of human STAT1 deficiency impairing early but not late responses to interferons. 56 6
20841510 2010
2
Human complete Stat-1 deficiency is associated with defective type I and II IFN responses in vitro but immunity to some low virulence viruses in vivo. 56 6
16585605 2006
3
Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency. 56 6
12590259 2003
4
The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases. 56
19084105 2008
5
cDNA cloning, expression and chromosome mapping of the human STAT4 gene: both STAT4 and STAT1 genes are mapped to 2q32.2-->q32.3. 56
9284918 1997
6
Diagnosing inborn error of immunity following the presentation of a complicated acquired infection after MMRV vaccine administration. 61
31969413 2020

Variations for Immunodeficiency 31b

ClinVar genetic disease variations for Immunodeficiency 31b:

6 (show all 38) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 STAT1 NM_139266.2(STAT1):c.1758_1759AG[1] (p.Glu587fs)short repeat Pathogenic 9044 rs587776713 2:191843694-191843695 2:190978968-190978969
2 STAT1 NM_007315.3(STAT1):c.1799T>C (p.Leu600Pro)SNV Pathogenic 9045 rs137852678 2:191843656-191843656 2:190978930-190978930
3 STAT1 NM_007315.3(STAT1):c.1927dup (p.Thr643fs)duplication Pathogenic 9048 rs587776714 2:191841697-191841698 2:190976971-190976972
4 STAT1 NM_007315.3(STAT1):c.603G>T (p.Lys201Asn)SNV Pathogenic 30082 rs587776870 2:191862973-191862973 2:190998247-190998247
5 STAT1 NM_007315.3(STAT1):c.820C>T (p.Arg274Trp)SNV Pathogenic 30083 rs387906758 2:191859911-191859911 2:190995185-190995185
6 STAT1 NM_007315.3(STAT1):c.800C>T (p.Ala267Val)SNV Pathogenic 30084 rs387906759 2:191859931-191859931 2:190995205-190995205
7 STAT1 NM_007315.3(STAT1):c.1154C>T (p.Thr385Met)SNV Pathogenic 144006 rs587777630 2:191851647-191851647 2:190986921-190986921
8 STAT1 NM_007315.3(STAT1):c.88del (p.Ile30fs)deletion Pathogenic 285493 rs886043118 2:191874642-191874642 2:191009916-191009916
9 STAT1 NM_007315.3(STAT1):c.876C>A (p.Asp292Glu)SNV Likely pathogenic 426484 rs1085307649 2:191859855-191859855 2:190995129-190995129
10 STAT1 NM_007315.3(STAT1):c.1162A>C (p.Lys388Gln)SNV Likely pathogenic 578600 rs1559011859 2:191851639-191851639 2:190986913-190986913
11 STAT1 NM_007315.3(STAT1):c.866A>G (p.Tyr289Cys)SNV Likely pathogenic 541825 rs1553496850 2:191859865-191859865 2:190995139-190995139
12 STAT1 NM_007315.3(STAT1):c.820C>G (p.Arg274Gly)SNV Likely pathogenic 160354 rs387906758 2:191859911-191859911 2:190995185-190995185
13 STAT1 NM_007315.3(STAT1):c.970T>C (p.Cys324Arg)SNV Likely pathogenic 643417 2:191856021-191856021 2:190991295-190991295
14 STAT1 NM_007315.3(STAT1):c.1632+6G>ASNV Conflicting interpretations of pathogenicity 333271 rs185216067 2:191845340-191845340 2:190980614-190980614
15 STAT1 NM_007315.3(STAT1):c.722G>A (p.Arg241Gln)SNV Conflicting interpretations of pathogenicity 333286 rs146273341 2:191862645-191862645 2:190997919-190997919
16 STAT1 NM_007315.3(STAT1):c.796G>A (p.Val266Ile)SNV Conflicting interpretations of pathogenicity 333285 rs41473544 2:191859935-191859935 2:190995209-190995209
17 STAT1 NM_007315.3(STAT1):c.1222-5T>CSNV Conflicting interpretations of pathogenicity 252674 rs191364028 2:191850391-191850391 2:190985665-190985665
18 STAT1 NM_007315.3(STAT1):c.274-4C>GSNV Uncertain significance 333291 rs377209172 2:191872391-191872391 2:191007665-191007665
19 STAT1 NM_007315.3(STAT1):c.1765G>T (p.Ala589Ser)SNV Uncertain significance 424473 rs745491762 2:191843690-191843690 2:190978964-190978964
20 STAT1 NM_007315.3(STAT1):c.1127+4C>TSNV Uncertain significance 474980 rs372508550 2:191851761-191851761 2:190987035-190987035
21 STAT1 NM_007315.3(STAT1):c.934C>T (p.Leu312Phe)SNV Uncertain significance 647487 2:191859797-191859797 2:190995071-190995071
22 STAT1 NM_007315.3(STAT1):c.478A>C (p.Ile160Leu)SNV Uncertain significance 648892 2:191864415-191864415 2:190999689-190999689
23 STAT1 NM_007315.3(STAT1):c.193G>A (p.Asp65Asn)SNV Uncertain significance 663843 2:191873769-191873769 2:191009043-191009043
24 STAT1 NM_007315.3(STAT1):c.1347+3A>GSNV Uncertain significance 647392 2:191849033-191849033 2:190984307-190984307
25 STAT1 NM_007315.3(STAT1):c.945-5T>GSNV Uncertain significance 661527 2:191856051-191856051 2:190991325-190991325
26 STAT1 NM_007315.4(STAT1):c.536A>G (p.Asn179Ser)SNV Uncertain significance 801844 2:191864357-191864357 2:190999631-190999631
27 STAT1 NM_007315.3(STAT1):c.1297C>G (p.Leu433Val)SNV Uncertain significance 579737 rs1181214715 2:191849086-191849086 2:190984360-190984360
28 STAT1 NM_007315.3(STAT1):c.1757G>A (p.Arg586Gln)SNV Uncertain significance 580685 rs144788879 2:191843698-191843698 2:190978972-190978972
29 STAT1 NM_007315.3(STAT1):c.1052T>G (p.Leu351Trp)SNV Uncertain significance 570250 rs1559013693 2:191854386-191854386 2:190989660-190989660
30 STAT1 NM_007315.3(STAT1):c.380C>T (p.Ser127Leu)SNV Uncertain significance 582688 rs768483703 2:191865882-191865882 2:191001156-191001156
31 STAT1 NM_007315.3(STAT1):c.1744A>G (p.Ile582Val)SNV Uncertain significance 642183 2:191843711-191843711 2:190978985-190978985
32 STAT1 NM_007315.3(STAT1):c.1675G>C (p.Glu559Gln)SNV Uncertain significance 648841 2:191844550-191844550 2:190979824-190979824
33 STAT1 NM_007315.3(STAT1):c.1629T>G (p.Cys543Trp)SNV Uncertain significance 652830 2:191845349-191845349 2:190980623-190980623
34 STAT1 NM_007315.3(STAT1):c.1437G>A (p.Ala479=)SNV Uncertain significance 654622 2:191848377-191848377 2:190983651-190983651
35 STAT1 NM_007315.3(STAT1):c.1431G>A (p.Leu477=)SNV Uncertain significance 650605 2:191848383-191848383 2:190983657-190983657
36 STAT1 NM_007315.3(STAT1):c.1256C>G (p.Thr419Arg)SNV Uncertain significance 650110 2:191850352-191850352 2:190985626-190985626
37 STAT1 NM_007315.3(STAT1):c.1168A>G (p.Met390Val)SNV Uncertain significance 644852 2:191851633-191851633 2:190986907-190986907
38 STAT1 NM_007315.3(STAT1):c.1371G>A (p.Val457=)SNV Likely benign 541830 rs144704615 2:191848443-191848443 2:190983717-190983717

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

73
# Symbol AA change Variation ID SNP ID
1 STAT1 p.Leu600Pro VAR_018265 rs137852678
2 STAT1 p.Lys201Asn VAR_065815 rs587776870
3 STAT1 p.Tyr701Cys VAR_075500

Expression for Immunodeficiency 31b

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

Pathways for Immunodeficiency 31b

GO Terms for Immunodeficiency 31b

Sources for Immunodeficiency 31b

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....