IMD31B
MCID: IMM178
MIFTS: 23

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 57 75 73
Mycobacterial and Viral Infections, Susceptibility to, Autosomal Recessive 29 13 6
Immunodeficiency 31b, Mycobacterial and Viral Infections, Autosomal Recessive 57 75
Imd31b 57 75
Immunodeficiency, Type 31b, Mycobacterial and Viral Infections, Autosomal Recessive 40
Autosomal Recessive Susceptibility to Mycobacterial and Viral Infections 75
Mycobacterial and Viral Infections Due to Complete Stat1 Deficiency 75
Susceptibility to Viral and Mycobacterial Infections 59
Stat1 Deficiency, Autosomal Recessive 57
Autosomal Recessive Stat1 Deficiency 75
Stat1 Deficiency 59

Characteristics:

Orphanet epidemiological data:

59
susceptibility to viral and mycobacterial infections
Inheritance: Autosomal recessive;

OMIM:

57
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:

32
immunodeficiency 31b:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

OMIM 57 613796
Orphanet 59 ORPHA391311
ICD10 via Orphanet 34 D84.8
MedGen 42 C3151088
MeSH 44 D007153
SNOMED-CT via HPO 69 258211005 428638009
UMLS 73 C3151088

Summaries for Immunodeficiency 31b

UniProtKB/Swiss-Prot : 75 Immunodeficiency 31B: A disorder characterized by susceptibility to severe mycobacterial and viral infections. Affected individuals can develop disseminated infections and die of viral illness.

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

Description from OMIM: 613796

Related Diseases for Immunodeficiency 31b

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

# Related Disease Score Top Affiliating Genes
1 immunodeficiency 31a 11.1
2 osteomyelitis 9.9
3 arthritis 9.8
4 hematopoietic stem cell transplantation 9.8
5 lyme disease 9.8

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



Diseases related to Immunodeficiency 31b

Symptoms & Phenotypes for Immunodeficiency 31b

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Immunodeficiency 31b:

32
# Description HPO Frequency HPO Source Accession
1 recurrent mycobacterial infections 32 HP:0011274
2 herpes simplex encephalitis 32 HP:0012302

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 Year
1
Long-Term Survival After Hematopoietic Stem Cell Transplantation for Complete STAT1 Deficiency. ( 28815344 )
2017
2
Mycobacterium szulgai Chronic Multifocal Osteomyelitis in an Adolescent with Inherited STAT1 Deficiency. ( 24061272 )
2013
3
Mycobacterium szulgai chronic multifocal osteomyelitis in an adolescent with inherited STAT1 deficiency. ( 24569307 )
2013
4
A novel form of human STAT1 deficiency impairing early but not late responses to interferons. ( 20841510 )
2010
5
A partial form of recessive STAT1 deficiency in humans. ( 19436109 )
2009
6
Stat1 deficiency exacerbates carditis but not arthritis during experimental lyme borreliosis. ( 16734559 )
2006
7
Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency. ( 12590259 )
2003

Variations for Immunodeficiency 31b

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

75
# 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

ClinVar genetic disease variations for Immunodeficiency 31b:

6 (show top 50) (show all 72)
# Gene Variation Type Significance SNP ID Assembly Location
1 STAT1 NM_007315.3(STAT1): c.1760_1761delAG (p.Glu587Alafs) deletion Pathogenic rs587776713 GRCh38 Chromosome 2, 190978968: 190978969
2 STAT1 NM_007315.3(STAT1): c.1760_1761delAG (p.Glu587Alafs) deletion Pathogenic rs587776713 GRCh37 Chromosome 2, 191843694: 191843695
3 STAT1 NM_007315.3(STAT1): c.1799T> C (p.Leu600Pro) single nucleotide variant Pathogenic rs137852678 GRCh37 Chromosome 2, 191843656: 191843656
4 STAT1 NM_007315.3(STAT1): c.1799T> C (p.Leu600Pro) single nucleotide variant Pathogenic rs137852678 GRCh38 Chromosome 2, 190978930: 190978930
5 STAT1 NM_007315.3(STAT1): c.1927dupA (p.Thr643Asnfs) duplication Pathogenic rs587776714 GRCh38 Chromosome 2, 190976972: 190976972
6 STAT1 NM_007315.3(STAT1): c.1927dupA (p.Thr643Asnfs) duplication Pathogenic rs587776714 GRCh37 Chromosome 2, 191841698: 191841698
7 STAT1 NM_007315.3(STAT1): c.603G> T (p.Lys201Asn) single nucleotide variant Pathogenic rs587776870 GRCh38 Chromosome 2, 190998247: 190998247
8 STAT1 NM_007315.3(STAT1): c.603G> T (p.Lys201Asn) single nucleotide variant Pathogenic rs587776870 GRCh37 Chromosome 2, 191862973: 191862973
9 STAT1 NM_007315.3(STAT1): c.820C> T (p.Arg274Trp) single nucleotide variant Pathogenic rs387906758 GRCh37 Chromosome 2, 191859911: 191859911
10 STAT1 NM_007315.3(STAT1): c.820C> T (p.Arg274Trp) single nucleotide variant Pathogenic rs387906758 GRCh38 Chromosome 2, 190995185: 190995185
11 STAT1 NM_007315.3(STAT1): c.800C> T (p.Ala267Val) single nucleotide variant Pathogenic rs387906759 GRCh37 Chromosome 2, 191859931: 191859931
12 STAT1 NM_007315.3(STAT1): c.800C> T (p.Ala267Val) single nucleotide variant Pathogenic rs387906759 GRCh38 Chromosome 2, 190995205: 190995205
13 STAT1 NM_007315.3(STAT1): c.1154C> T (p.Thr385Met) single nucleotide variant Pathogenic rs587777630 GRCh37 Chromosome 2, 191851647: 191851647
14 STAT1 NM_007315.3(STAT1): c.1154C> T (p.Thr385Met) single nucleotide variant Pathogenic rs587777630 GRCh38 Chromosome 2, 190986921: 190986921
15 STAT1 NM_007315.3(STAT1): c.820C> G (p.Arg274Gly) single nucleotide variant Likely pathogenic rs387906758 GRCh38 Chromosome 2, 190995185: 190995185
16 STAT1 NM_007315.3(STAT1): c.820C> G (p.Arg274Gly) single nucleotide variant Likely pathogenic rs387906758 GRCh37 Chromosome 2, 191859911: 191859911
17 STAT1 NM_007315.3(STAT1): c.88delA (p.Ile30Serfs) deletion Pathogenic rs886043118 GRCh37 Chromosome 2, 191874642: 191874642
18 STAT1 NM_007315.3(STAT1): c.88delA (p.Ile30Serfs) deletion Pathogenic rs886043118 GRCh38 Chromosome 2, 191009916: 191009916
19 STAT1 NM_007315.3(STAT1): c.1097+10C> G single nucleotide variant Benign/Likely benign rs41488044 GRCh37 Chromosome 2, 191854331: 191854331
20 STAT1 NM_007315.3(STAT1): c.1097+10C> G single nucleotide variant Benign/Likely benign rs41488044 GRCh38 Chromosome 2, 190989605: 190989605
21 STAT1 NM_007315.3(STAT1): c.633+6T> A single nucleotide variant Benign/Likely benign rs45459703 GRCh37 Chromosome 2, 191862937: 191862937
22 STAT1 NM_007315.3(STAT1): c.633+6T> A single nucleotide variant Benign/Likely benign rs45459703 GRCh38 Chromosome 2, 190998211: 190998211
23 STAT1 NM_007315.3(STAT1): c.1155G> A (p.Thr385=) single nucleotide variant Benign/Likely benign rs41270237 GRCh37 Chromosome 2, 191851646: 191851646
24 STAT1 NM_007315.3(STAT1): c.1155G> A (p.Thr385=) single nucleotide variant Benign/Likely benign rs41270237 GRCh38 Chromosome 2, 190986920: 190986920
25 STAT1 NM_007315.3(STAT1): c.796G> A (p.Val266Ile) single nucleotide variant Likely benign rs41473544 GRCh37 Chromosome 2, 191859935: 191859935
26 STAT1 NM_007315.3(STAT1): c.796G> A (p.Val266Ile) single nucleotide variant Likely benign rs41473544 GRCh38 Chromosome 2, 190995209: 190995209
27 STAT1 NM_007315.3(STAT1): c.1866C> T (p.Asn622=) single nucleotide variant Likely benign rs112108750 GRCh38 Chromosome 2, 190978863: 190978863
28 STAT1 NM_007315.3(STAT1): c.1866C> T (p.Asn622=) single nucleotide variant Likely benign rs112108750 GRCh37 Chromosome 2, 191843589: 191843589
29 STAT1 NM_007315.3(STAT1): c.1632+6G> A single nucleotide variant Conflicting interpretations of pathogenicity rs185216067 GRCh38 Chromosome 2, 190980614: 190980614
30 STAT1 NM_007315.3(STAT1): c.1632+6G> A single nucleotide variant Conflicting interpretations of pathogenicity rs185216067 GRCh37 Chromosome 2, 191845340: 191845340
31 STAT1 NM_007315.3(STAT1): c.1263+7G> A single nucleotide variant Likely benign rs56228116 GRCh38 Chromosome 2, 190985612: 190985612
32 STAT1 NM_007315.3(STAT1): c.1263+7G> A single nucleotide variant Likely benign rs56228116 GRCh37 Chromosome 2, 191850338: 191850338
33 STAT1 NM_007315.3(STAT1): c.1116T> C (p.Asn372=) single nucleotide variant Benign/Likely benign rs55891000 GRCh37 Chromosome 2, 191851776: 191851776
34 STAT1 NM_007315.3(STAT1): c.1116T> C (p.Asn372=) single nucleotide variant Benign/Likely benign rs55891000 GRCh38 Chromosome 2, 190987050: 190987050
35 STAT1 NM_007315.3(STAT1): c.990G> A (p.Gln330=) single nucleotide variant Benign/Likely benign rs41509946 GRCh37 Chromosome 2, 191856001: 191856001
36 STAT1 NM_007315.3(STAT1): c.990G> A (p.Gln330=) single nucleotide variant Benign/Likely benign rs41509946 GRCh38 Chromosome 2, 190991275: 190991275
37 STAT1 NM_007315.3(STAT1): c.1765G> T (p.Ala589Ser) single nucleotide variant Uncertain significance rs745491762 GRCh38 Chromosome 2, 190978964: 190978964
38 STAT1 NM_007315.3(STAT1): c.1765G> T (p.Ala589Ser) single nucleotide variant Uncertain significance rs745491762 GRCh37 Chromosome 2, 191843690: 191843690
39 STAT1 NM_007315.3(STAT1): c.2136T> G (p.Val712=) single nucleotide variant Benign rs35364817 GRCh37 Chromosome 2, 191839658: 191839658
40 STAT1 NM_007315.3(STAT1): c.2136T> G (p.Val712=) single nucleotide variant Benign rs35364817 GRCh38 Chromosome 2, 190974932: 190974932
41 STAT1 NM_007315.3(STAT1): c.870A> G (p.Glu290=) single nucleotide variant Likely benign rs767586956 GRCh37 Chromosome 2, 191859861: 191859861
42 STAT1 NM_007315.3(STAT1): c.870A> G (p.Glu290=) single nucleotide variant Likely benign rs767586956 GRCh38 Chromosome 2, 190995135: 190995135
43 STAT1 NM_007315.3(STAT1): c.2019A> G (p.Lys673=) single nucleotide variant Benign rs35098579 GRCh37 Chromosome 2, 191841606: 191841606
44 STAT1 NM_007315.3(STAT1): c.2019A> G (p.Lys673=) single nucleotide variant Benign rs35098579 GRCh38 Chromosome 2, 190976880: 190976880
45 STAT1 NM_007315.3(STAT1): c.1127+4C> T single nucleotide variant Uncertain significance rs372508550 GRCh37 Chromosome 2, 191851761: 191851761
46 STAT1 NM_007315.3(STAT1): c.1127+4C> T single nucleotide variant Uncertain significance rs372508550 GRCh38 Chromosome 2, 190987035: 190987035
47 STAT1 NM_007315.3(STAT1): c.1257G> A (p.Thr419=) single nucleotide variant Benign rs73979321 GRCh38 Chromosome 2, 190985625: 190985625
48 STAT1 NM_007315.3(STAT1): c.1257G> A (p.Thr419=) single nucleotide variant Benign rs73979321 GRCh37 Chromosome 2, 191850351: 191850351
49 STAT1 NM_007315.3(STAT1): c.463-8G> C single nucleotide variant Benign rs2066794 GRCh38 Chromosome 2, 190999712: 190999712
50 STAT1 NM_007315.3(STAT1): c.463-8G> C single nucleotide variant Benign rs2066794 GRCh37 Chromosome 2, 191864438: 191864438

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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
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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