IMD31B
MCID: IMM178
MIFTS: 40

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 12 72 15 70
Mycobacterial and Viral Infections, Susceptibility to, Autosomal Recessive 29 13 6
Imd31b 57 12 72
Immunodeficiency 31b, Mycobacterial and Viral Infections, Autosomal Recessive 57 72
Susceptibility to Viral and Mycobacterial Infections Due to Stat1 Deficiency 12 58
Predisposition to Severe Viral Infection Due to Stat1 Deficiency 12 58
Autosomal Recessive Stat1 Deficiency 12 72
Immunodeficiency, Type 31b, Mycobacterial and Viral Infections, Autosomal Recessive 39
Autosomal Recessive Immunodeficiency 31b, Mycobacterial and Viral Infections 12
Autosomal Recessive Susceptibility to Mycobacterial and Viral Infections 72
Mycobacterial and Viral Infections Due to Complete Stat1 Deficiency 72
Stat1 Deficiency, Autosomal Recessive 57
Stat1 Deficiency 58

Characteristics:

Orphanet epidemiological data:

58

OMIM®:

57 (Updated 20-May-2021)
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:

Disease Ontology 12 DOID:0111944
OMIM® 57 613796
OMIM Phenotypic Series 57 PS300755
MeSH 44 D007153
ICD10 via Orphanet 33 D84.8
Orphanet 58 ORPHA391311
MedGen 41 C3151088
SNOMED-CT via HPO 68 258211005 428638009
UMLS 70 C3151088

Summaries for Immunodeficiency 31b

OMIM® : 57 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) (Updated 20-May-2021)

MalaCards based summary : Immunodeficiency 31b, also known as mycobacterial and viral infections, susceptibility to, autosomal recessive, is related to immunodeficiency 31a and haverhill fever. An important gene associated with Immunodeficiency 31b is STAT1 (Signal Transducer And Activator Of Transcription 1), and among its related pathways/superpathways are Cytokine Signaling in Immune system and Pathways in cancer. Related phenotypes are recurrent viral infections and recurrent mycobacterial infections

Disease Ontology : 12 A primary immunodeficiency disease characterized by impaired cellular responses to interferons A, B, and G resulting increased susceptibility to mycobacteria, Salmonella, and viruses that has material basis in homozygous or compound heterozygous mutation in STAT1 on chromosome 2q32.2.

UniProtKB/Swiss-Prot : 72 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:

(showing 37, show less)
# Related Disease Score Top Affiliating Genes
1 immunodeficiency 31a 11.7
2 haverhill fever 10.0 STAT1 RAG1
3 viral infectious disease 10.0
4 progressive multifocal leukoencephalopathy 9.9 STAT1 RAG1
5 dermatophytosis 9.9 STAT1 IL12RB1
6 hyper ige recurrent infection syndrome 1 9.9 STAT1 IL12RB1
7 coccidioidomycosis 9.9 STAT1 IL12RB1
8 macs syndrome 9.9 STAT1 IL12RB1
9 primary systemic mycosis 9.9 STAT1 IL12RB1
10 t cell deficiency 9.9 SMARCAL1 RAG1
11 immunodeficiency 35 9.9 STAT1 IL12RB1
12 immunodeficiency 21 9.9 STAT1 IL12RB1
13 histoplasmosis 9.8 STAT1 IL12RB1
14 immunodeficiency with hyper-igm, type 1 9.8 RAG1 IKBKG
15 nail disease 9.8 STAT1 IL12RB1
16 tuberculous salpingitis 9.8 IL12RB1 IKBKG
17 otitis media 9.8
18 chronic recurrent multifocal osteomyelitis 9.8
19 myocardial infarction 9.8
20 graft-versus-host disease 9.8
21 hereditary lymphedema i 9.8
22 osteomyelitis 9.8
23 thrombotic thrombocytopenic purpura 9.8
24 lyme disease 9.8
25 purpura 9.8
26 keratoconjunctivitis 9.8
27 acute graft versus host disease 9.8
28 atypical mycobacteriosis, familial 9.8
29 encephalopathy 9.8
30 opportunistic mycosis 9.8 STAT1 IL12RB1
31 fungal infectious disease 9.8 STAT1 IL12RB1
32 rigid spine muscular dystrophy 1 9.7 RSPH1 RAG1
33 salmonellosis 9.7 STAT1 IL12RB1
34 immunodeficiency 27b 9.6 STAT1 IL12RB1 IKBKG
35 chronic mucocutaneous candidiasis 9.6 STAT1 IL12RB1 IKBKG
36 combined immunodeficiency 9.4 STAT1 RAG1 IKBKG
37 immune deficiency disease 9.0 STAT1 SMARCAL1 RAG1 IL12RB1 IKBKG

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 (showing 3, show less)
# 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®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Immunodeficiency 31b:

46 (showing 6, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.87 IKBKG IL12RB1 RAG1 RSPH1 SMARCAL1 STAT1
2 cellular MP:0005384 9.85 IKBKG RAG1 RSPH1 SMARCAL1 STAT1 UNC93B1
3 hematopoietic system MP:0005397 9.73 IKBKG IL12RB1 RAG1 SMARCAL1 STAT1 UNC93B1
4 homeostasis/metabolism MP:0005376 9.7 IKBKG IL12RB1 RAG1 RSPH1 SMARCAL1 STAT1
5 immune system MP:0005387 9.43 IKBKG IL12RB1 RAG1 SMARCAL1 STAT1 UNC93B1
6 skeleton MP:0005390 9.1 IL12RB1 RAG1 RSPH1 SMARCAL1 STAT1 UNC93B1

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:

(showing 33, show less)
# Title Authors PMID Year
1
A novel form of human STAT1 deficiency impairing early but not late responses to interferons. 6 57
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. 6 57
16585605 2006
3
Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency. 57 6
12590259 2003
4
Ruxolitinib partially reverses functional natural killer cell deficiency in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations. 6
29111217 2018
5
A gain-of-function mutation of STAT1: A novel genetic factor contributing to chronic mucocutaneous candidiasis. 6
28597685 2017
6
Molecular mechanism and structural basis of gain-of-function of STAT1 caused by pathogenic R274Q mutation. 6
28258222 2017
7
New and recurrent STAT1 mutations in seven Chinese patients with chronic mucocutaneous candidiasis. 6
27808400 2017
8
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 6
26938784 2016
9
Severe Early-Onset Combined Immunodeficiency due to Heterozygous Gain-of-Function Mutations in STAT1. 6
27379765 2016
10
A novel presentation of homozygous loss-of-function STAT-1 mutation in an infant with hyperinflammation-A case report and review of the literature. 6
27117246 2016
11
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype. 6
27114460 2016
12
Progressive Multifocal Leukoencephalopathy in Primary Immune Deficiencies: Stat1 Gain of Function and Review of the Literature. 6
26743090 2016
13
Extrapulmonary tuberculosis mimicking Mendelian susceptibility to mycobacterial disease in a patient with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation. 6
26242301 2016
14
The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1. 6
26604104 2016
15
A STAT1-gain-of-function mutation causing Th17 deficiency with chronic mucocutaneous candidiasis, psoriasiform hyperkeratosis and dermatophytosis. 6
26494717 2015
16
Gain-of-function STAT1 mutations impair STAT3 activity in patients with chronic mucocutaneous candidiasis (CMC). 6
26255980 2015
17
Orf Infection in a Patient with Stat1 Gain-of-Function. 6
25367169 2015
18
Gain-of-function mutations in signal transducer and activator of transcription 1 (STAT1): chronic mucocutaneous candidiasis accompanied by enamel defects and delayed dental shedding. 6
25042743 2014
19
Clinical exome sequencing for genetic identification of rare Mendelian disorders. 6
25326637 2014
20
Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis. 6
24343863 2014
21
Fatal combined immunodeficiency associated with heterozygous mutation in STAT1. 6
24239102 2014
22
Penicillium marneffei infection and impaired IFN-γ immunity in humans with autosomal-dominant gain-of-phosphorylation STAT1 mutations. 6
24188975 2014
23
New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe. 6
23709754 2013
24
Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome. 6
23534974 2013
25
Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis. 6
23541320 2013
26
Autosomal-dominant chronic mucocutaneous candidiasis with STAT1-mutation can be complicated with chronic active hepatitis and hypothyroidism. 6
22847544 2012
27
Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain. 6
22730530 2012
28
Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. 6
21727188 2011
29
STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis. 6
21714643 2011
30
STAT1 hyperphosphorylation and defective IL12R/IL23R signaling underlie defective immunity in autosomal dominant chronic mucocutaneous candidiasis. 6
22195034 2011
31
The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases. 57
19084105 2008
32
cDNA cloning, expression and chromosome mapping of the human STAT4 gene: both STAT4 and STAT1 genes are mapped to 2q32.2-->q32.3. 57
9284918 1997
33
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 (showing 112, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 STAT1 NM_007315.3(STAT1):c.1799T>C (p.Leu600Pro) SNV Pathogenic 9045 rs137852678 GRCh37: 2:191843656-191843656
GRCh38: 2:190978930-190978930
2 STAT1 NM_007315.3(STAT1):c.1927dup (p.Thr643fs) Duplication Pathogenic 9048 rs587776714 GRCh37: 2:191841697-191841698
GRCh38: 2:190976971-190976972
3 STAT1 NM_007315.3(STAT1):c.603G>T (p.Lys201Asn) SNV Pathogenic 30082 rs587776870 GRCh37: 2:191862973-191862973
GRCh38: 2:190998247-190998247
4 STAT1 NM_139266.2(STAT1):c.1758_1759AG[1] (p.Glu587fs) Microsatellite Pathogenic 9044 rs587776713 GRCh37: 2:191843694-191843695
GRCh38: 2:190978968-190978969
5 STAT1 NM_007315.3(STAT1):c.88del (p.Ile30fs) Deletion Pathogenic 285493 rs886043118 GRCh37: 2:191874642-191874642
GRCh38: 2:191009916-191009916
6 STAT1 NM_007315.3(STAT1):c.866A>G (p.Tyr289Cys) SNV Pathogenic 541825 rs1553496850 GRCh37: 2:191859865-191859865
GRCh38: 2:190995139-190995139
7 STAT1 NM_007315.3(STAT1):c.800C>T (p.Ala267Val) SNV Pathogenic 30084 rs387906759 GRCh37: 2:191859931-191859931
GRCh38: 2:190995205-190995205
8 STAT1 NM_007315.3(STAT1):c.820C>T (p.Arg274Trp) SNV Pathogenic 30083 rs387906758 GRCh37: 2:191859911-191859911
GRCh38: 2:190995185-190995185
9 STAT1 NM_007315.3(STAT1):c.1154C>T (p.Thr385Met) SNV Pathogenic 144006 rs587777630 GRCh37: 2:191851647-191851647
GRCh38: 2:190986921-190986921
10 STAT1 NM_007315.3(STAT1):c.821G>A (p.Arg274Gln) SNV Pathogenic 30085 rs387906760 GRCh37: 2:191859910-191859910
GRCh38: 2:190995184-190995184
11 STAT1 NM_007315.4(STAT1):c.1011_1012del (p.Val339fs) Deletion Pathogenic 961842 GRCh37: 2:191855979-191855980
GRCh38: 2:190991253-190991254
12 STAT1 NM_007315.4(STAT1):c.851A>G (p.Glu284Gly) SNV Likely pathogenic 965491 GRCh37: 2:191859880-191859880
GRCh38: 2:190995154-190995154
13 STAT1 NM_007315.3(STAT1):c.876C>A (p.Asp292Glu) SNV Likely pathogenic 426484 rs1085307649 GRCh37: 2:191859855-191859855
GRCh38: 2:190995129-190995129
14 STAT1 NM_007315.4(STAT1):c.856A>C (p.Lys286Gln) SNV Likely pathogenic 848283 GRCh37: 2:191859875-191859875
GRCh38: 2:190995149-190995149
15 STAT1 NM_007315.4(STAT1):c.863C>T (p.Thr288Ile) SNV Likely pathogenic 848760 GRCh37: 2:191859868-191859868
GRCh38: 2:190995142-190995142
16 STAT1 NM_007315.4(STAT1):c.1166T>G (p.Val389Gly) SNV Likely pathogenic 860546 GRCh37: 2:191851635-191851635
GRCh38: 2:190986909-190986909
17 STAT1 NM_007315.4(STAT1):c.1310C>T (p.Thr437Ile) SNV Likely pathogenic 852805 GRCh37: 2:191849073-191849073
GRCh38: 2:190984347-190984347
18 STAT1 NM_007315.3(STAT1):c.876C>A (p.Asp292Glu) SNV Likely pathogenic 426484 rs1085307649 GRCh37: 2:191859855-191859855
GRCh38: 2:190995129-190995129
19 STAT1 NM_007315.3(STAT1):c.1162A>C (p.Lys388Gln) SNV Likely pathogenic 578600 rs1559011859 GRCh37: 2:191851639-191851639
GRCh38: 2:190986913-190986913
20 STAT1 NM_007315.3(STAT1):c.820C>G (p.Arg274Gly) SNV Likely pathogenic 160354 rs387906758 GRCh37: 2:191859911-191859911
GRCh38: 2:190995185-190995185
21 STAT1 NM_007315.3(STAT1):c.970T>C (p.Cys324Arg) SNV Likely pathogenic 643417 rs1574653439 GRCh37: 2:191856021-191856021
GRCh38: 2:190991295-190991295
22 STAT1 NM_007315.3(STAT1):c.1222-5T>C SNV Conflicting interpretations of pathogenicity 252674 rs191364028 GRCh37: 2:191850391-191850391
GRCh38: 2:190985665-190985665
23 STAT1 NM_007315.3(STAT1):c.796G>A (p.Val266Ile) SNV Conflicting interpretations of pathogenicity 333285 rs41473544 GRCh37: 2:191859935-191859935
GRCh38: 2:190995209-190995209
24 STAT1 NM_007315.3(STAT1):c.1744A>G (p.Ile582Val) SNV Uncertain significance 642183 rs774306421 GRCh37: 2:191843711-191843711
GRCh38: 2:190978985-190978985
25 STAT1 NM_007315.4(STAT1):c.389T>C (p.Ile130Thr) SNV Uncertain significance 937753 GRCh37: 2:191865873-191865873
GRCh38: 2:191001147-191001147
26 STAT1 NM_007315.3(STAT1):c.1090T>C (p.Phe364Leu) SNV Uncertain significance 333283 rs759722579 GRCh37: 2:191854348-191854348
GRCh38: 2:190989622-190989622
27 STAT1 NM_007315.4(STAT1):c.955G>A (p.Val319Met) SNV Uncertain significance 944892 GRCh37: 2:191856036-191856036
GRCh38: 2:190991310-190991310
28 STAT1 NM_007315.4(STAT1):c.1856G>A (p.Arg619Gln) SNV Uncertain significance 946599 GRCh37: 2:191843599-191843599
GRCh38: 2:190978873-190978873
29 STAT1 NM_007315.4(STAT1):c.1591G>A (p.Ala531Thr) SNV Uncertain significance 951668 GRCh37: 2:191845387-191845387
GRCh38: 2:190980661-190980661
30 STAT1 NM_007315.4(STAT1):c.2059+6_2059+7del Deletion Uncertain significance 955737 GRCh37: 2:191841559-191841560
GRCh38: 2:190976833-190976834
31 STAT1 NM_007315.4(STAT1):c.856A>G (p.Lys286Glu) SNV Uncertain significance 959111 GRCh37: 2:191859875-191859875
GRCh38: 2:190995149-190995149
32 STAT1 NM_007315.4(STAT1):c.989A>G (p.Gln330Arg) SNV Uncertain significance 960580 GRCh37: 2:191856002-191856002
GRCh38: 2:190991276-190991276
33 STAT1 NM_007315.4(STAT1):c.68A>T (p.Asp23Val) SNV Uncertain significance 965789 GRCh37: 2:191874662-191874662
GRCh38: 2:191009936-191009936
34 STAT1 NM_007315.4(STAT1):c.623A>G (p.Asn208Ser) SNV Uncertain significance 965794 GRCh37: 2:191862953-191862953
GRCh38: 2:190998227-190998227
35 STAT1 NM_007315.4(STAT1):c.1263+4A>G SNV Uncertain significance 966259 GRCh37: 2:191850341-191850341
GRCh38: 2:190985615-190985615
36 STAT1 NM_007315.4(STAT1):c.1117A>T (p.Thr373Ser) SNV Uncertain significance 968726 GRCh37: 2:191851775-191851775
GRCh38: 2:190987049-190987049
37 STAT1 NM_007315.4(STAT1):c.1949A>G (p.Asn650Ser) SNV Uncertain significance 968958 GRCh37: 2:191841676-191841676
GRCh38: 2:190976950-190976950
38 STAT1 NM_007315.4(STAT1):c.541+6G>C SNV Uncertain significance 998635 GRCh37: 2:191864346-191864346
GRCh38: 2:190999620-190999620
39 STAT1 NM_007315.4(STAT1):c.1276G>A (p.Val426Ile) SNV Uncertain significance 1013684 GRCh37: 2:191849107-191849107
GRCh38: 2:190984381-190984381
40 STAT1 NM_007315.4(STAT1):c.1202C>A (p.Ala401Glu) SNV Uncertain significance 1017833 GRCh37: 2:191851599-191851599
GRCh38: 2:190986873-190986873
41 STAT1 NM_007315.4(STAT1):c.877_891del (p.Pro293_Asn297del) Deletion Uncertain significance 1017838 GRCh37: 2:191859840-191859854
GRCh38: 2:190995114-190995128
42 STAT1 NM_007315.4(STAT1):c.1632+5G>A SNV Uncertain significance 1019127 GRCh37: 2:191845341-191845341
GRCh38: 2:190980615-190980615
43 STAT1 NM_007315.4(STAT1):c.976C>T (p.Pro326Ser) SNV Uncertain significance 1019308 GRCh37: 2:191856015-191856015
GRCh38: 2:190991289-190991289
44 STAT1 NM_007315.3(STAT1):c.1341C>A (p.Asp447Glu) SNV Uncertain significance 333273 rs140351189 GRCh37: 2:191849042-191849042
GRCh38: 2:190984316-190984316
45 STAT1 NM_007315.4(STAT1):c.1221+6G>T SNV Uncertain significance 1023104 GRCh37: 2:191851574-191851574
GRCh38: 2:190986848-190986848
46 STAT1 NM_007315.4(STAT1):c.2059+5G>A SNV Uncertain significance 1042523 GRCh37: 2:191841561-191841561
GRCh38: 2:190976835-190976835
47 STAT1 NM_007315.4(STAT1):c.1619C>T (p.Thr540Met) SNV Uncertain significance 1046569 GRCh37: 2:191845359-191845359
GRCh38: 2:190980633-190980633
48 STAT1 NM_007315.4(STAT1):c.274-3T>C SNV Uncertain significance 1062471 GRCh37: 2:191872390-191872390
GRCh38: 2:191007664-191007664
49 STAT1 NC_000002.12:g.(?_190970683)_(190970737_?)dup Duplication Uncertain significance 832334 GRCh37: 2:191835409-191835463
GRCh38:
50 STAT1 NM_007315.3(STAT1):c.1765G>T (p.Ala589Ser) SNV Uncertain significance 424473 rs745491762 GRCh37: 2:191843690-191843690
GRCh38: 2:190978964-190978964
51 STAT1 NM_007315.3(STAT1):c.1297C>G (p.Leu433Val) SNV Uncertain significance 579737 rs1181214715 GRCh37: 2:191849086-191849086
GRCh38: 2:190984360-190984360
52 STAT1 NM_007315.3(STAT1):c.1757G>A (p.Arg586Gln) SNV Uncertain significance 580685 rs144788879 GRCh37: 2:191843698-191843698
GRCh38: 2:190978972-190978972
53 STAT1 NM_007315.3(STAT1):c.380C>T (p.Ser127Leu) SNV Uncertain significance 582688 rs768483703 GRCh37: 2:191865882-191865882
GRCh38: 2:191001156-191001156
54 STAT1 NM_007315.3(STAT1):c.1052T>G (p.Leu351Trp) SNV Uncertain significance 570250 rs1559013693 GRCh37: 2:191854386-191854386
GRCh38: 2:190989660-190989660
55 STAT1 NM_007315.3(STAT1):c.1632+6G>A SNV Uncertain significance 333271 rs185216067 GRCh37: 2:191845340-191845340
GRCh38: 2:190980614-190980614
56 STAT1 NM_007315.4(STAT1):c.595C>T (p.Leu199Phe) SNV Uncertain significance 837552 GRCh37: 2:191862981-191862981
GRCh38: 2:190998255-190998255
57 STAT1 NM_007315.4(STAT1):c.850G>A (p.Glu284Lys) SNV Uncertain significance 827741 rs1574657750 GRCh37: 2:191859881-191859881
GRCh38: 2:190995155-190995155
58 STAT1 NM_007315.4(STAT1):c.2201_2208del (p.Val734fs) Deletion Uncertain significance 839216 GRCh37: 2:191839586-191839593
GRCh38: 2:190974860-190974867
59 STAT1 NM_007315.4(STAT1):c.1053G>C (p.Leu351Phe) SNV Uncertain significance 840620 GRCh37: 2:191854385-191854385
GRCh38: 2:190989659-190989659
60 STAT1 NM_007315.4(STAT1):c.596T>C (p.Leu199Pro) SNV Uncertain significance 842244 GRCh37: 2:191862980-191862980
GRCh38: 2:190998254-190998254
61 STAT1 NM_007315.4(STAT1):c.246C>A (p.Asn82Lys) SNV Uncertain significance 842864 GRCh37: 2:191873716-191873716
GRCh38: 2:191008990-191008990
62 STAT1 NM_007315.4(STAT1):c.1886A>T (p.His629Leu) SNV Uncertain significance 843006 GRCh37: 2:191841739-191841739
GRCh38: 2:190977013-190977013
63 STAT1 NM_007315.4(STAT1):c.358C>G (p.Gln120Glu) SNV Uncertain significance 847774 GRCh37: 2:191872303-191872303
GRCh38: 2:191007577-191007577
64 STAT1 NM_007315.4(STAT1):c.1349C>T (p.Thr450Met) SNV Uncertain significance 854394 GRCh37: 2:191848465-191848465
GRCh38: 2:190983739-190983739
65 STAT1 NM_007315.4(STAT1):c.743T>C (p.Ile248Thr) SNV Uncertain significance 856465 GRCh37: 2:191862624-191862624
GRCh38: 2:190997898-190997898
66 STAT1 NM_007315.4(STAT1):c.1038-3C>T SNV Uncertain significance 856748 GRCh37: 2:191854403-191854403
GRCh38: 2:190989677-190989677
67 STAT1 NM_007315.4(STAT1):c.1363G>A (p.Val455Ile) SNV Uncertain significance 857074 GRCh37: 2:191848451-191848451
GRCh38: 2:190983725-190983725
68 STAT1 NM_007315.4(STAT1):c.1038A>C (p.Arg346Ser) SNV Uncertain significance 857689 GRCh37: 2:191854400-191854400
GRCh38: 2:190989674-190989674
69 STAT1 NM_007315.4(STAT1):c.629G>A (p.Arg210Lys) SNV Uncertain significance 859053 GRCh37: 2:191862947-191862947
GRCh38: 2:190998221-190998221
70 STAT1 NM_007315.3(STAT1):c.1168A>G (p.Met390Val) SNV Uncertain significance 644852 rs1574648919 GRCh37: 2:191851633-191851633
GRCh38: 2:190986907-190986907
71 STAT1 NM_007315.3(STAT1):c.1347+3A>G SNV Uncertain significance 647392 rs1574645914 GRCh37: 2:191849033-191849033
GRCh38: 2:190984307-190984307
72 STAT1 NM_007315.3(STAT1):c.934C>T (p.Leu312Phe) SNV Uncertain significance 647487 rs1574657656 GRCh37: 2:191859797-191859797
GRCh38: 2:190995071-190995071
73 STAT1 NM_007315.3(STAT1):c.1675G>C (p.Glu559Gln) SNV Uncertain significance 648841 rs1574641583 GRCh37: 2:191844550-191844550
GRCh38: 2:190979824-190979824
74 STAT1 NM_007315.3(STAT1):c.478A>C (p.Ile160Leu) SNV Uncertain significance 648892 rs371548986 GRCh37: 2:191864415-191864415
GRCh38: 2:190999689-190999689
75 STAT1 NM_007315.3(STAT1):c.1256C>G (p.Thr419Arg) SNV Uncertain significance 650110 rs1347113886 GRCh37: 2:191850352-191850352
GRCh38: 2:190985626-190985626
76 STAT1 NM_007315.3(STAT1):c.1431G>A (p.Leu477=) SNV Uncertain significance 650605 rs1384090178 GRCh37: 2:191848383-191848383
GRCh38: 2:190983657-190983657
77 STAT1 NM_007315.3(STAT1):c.274-4C>G SNV Uncertain significance 333291 rs377209172 GRCh37: 2:191872391-191872391
GRCh38: 2:191007665-191007665
78 STAT1 NM_007315.3(STAT1):c.1629T>G (p.Cys543Trp) SNV Uncertain significance 652830 rs1574642464 GRCh37: 2:191845349-191845349
GRCh38: 2:190980623-190980623
79 STAT1 NM_007315.3(STAT1):c.1437G>A (p.Ala479=) SNV Uncertain significance 654622 rs377513599 GRCh37: 2:191848377-191848377
GRCh38: 2:190983651-190983651
80 STAT1 NM_007315.3(STAT1):c.945-5T>G SNV Uncertain significance 661527 rs1574653475 GRCh37: 2:191856051-191856051
GRCh38: 2:190991325-190991325
81 STAT1 NM_007315.3(STAT1):c.722G>A (p.Arg241Gln) SNV Uncertain significance 333286 rs146273341 GRCh37: 2:191862645-191862645
GRCh38: 2:190997919-190997919
82 STAT1 NM_007315.3(STAT1):c.193G>A (p.Asp65Asn) SNV Uncertain significance 663843 rs1574672739 GRCh37: 2:191873769-191873769
GRCh38: 2:191009043-191009043
83 STAT1 NM_007315.4(STAT1):c.1280C>A (p.Thr427Asn) SNV Uncertain significance 931356 GRCh37: 2:191849103-191849103
GRCh38: 2:190984377-190984377
84 STAT1 NM_007315.3(STAT1):c.1127+4C>T SNV Uncertain significance 474980 rs372508550 GRCh37: 2:191851761-191851761
GRCh38: 2:190987035-190987035
85 STAT1 NM_007315.4(STAT1):c.536A>G (p.Asn179Ser) SNV Uncertain significance 801844 rs774611299 GRCh37: 2:191864357-191864357
GRCh38: 2:190999631-190999631
86 STAT1 NM_007315.3(STAT1):c.825G>A (p.Gln275=) SNV Likely benign 541829 rs61756197 GRCh37: 2:191859906-191859906
GRCh38: 2:190995180-190995180
87 STAT1 NM_007315.3(STAT1):c.1371G>A (p.Val457=) SNV Likely benign 541830 rs144704615 GRCh37: 2:191848443-191848443
GRCh38: 2:190983717-190983717
88 STAT1 NM_007315.3(STAT1):c.1866C>T (p.Asn622=) SNV Likely benign 333266 rs112108750 GRCh37: 2:191843589-191843589
GRCh38: 2:190978863-190978863
89 STAT1 NM_007315.3(STAT1):c.1059G>A (p.Glu353=) SNV Likely benign 541832 rs371279547 GRCh37: 2:191854379-191854379
GRCh38: 2:190989653-190989653
90 STAT1 NM_007315.4(STAT1):c.463-4G>T SNV Likely benign 724034 rs367840028 GRCh37: 2:191864434-191864434
GRCh38: 2:190999708-190999708
91 STAT1 NM_007315.4(STAT1):c.463-6_463-3del Microsatellite Likely benign 733425 rs773775483 GRCh37: 2:191864433-191864436
GRCh38: 2:190999707-190999710
92 STAT1 NM_007315.3(STAT1):c.1127+10G>A SNV Likely benign 333280 rs140665796 GRCh37: 2:191851755-191851755
GRCh38: 2:190987029-190987029
93 STAT1 NM_007315.4(STAT1):c.1899C>T (p.Pro633=) SNV Likely benign 764077 rs141415212 GRCh37: 2:191841726-191841726
GRCh38: 2:190977000-190977000
94 STAT1 NM_007315.4(STAT1):c.1398C>T (p.Ser466=) SNV Likely benign 798129 rs763759889 GRCh37: 2:191848416-191848416
GRCh38: 2:190983690-190983690
95 STAT1 NM_007315.3(STAT1):c.1263+7G>A SNV Likely benign 333275 rs56228116 GRCh37: 2:191850338-191850338
GRCh38: 2:190985612-190985612
96 STAT1 NM_007315.3(STAT1):c.796G>A (p.Val266Ile) SNV Likely benign 333285 rs41473544 GRCh37: 2:191859935-191859935
GRCh38: 2:190995209-190995209
97 STAT1 NM_007315.3(STAT1):c.633+6T>A SNV Benign 333289 rs45459703 GRCh37: 2:191862937-191862937
GRCh38: 2:190998211-190998211
98 STAT1 NM_007315.3(STAT1):c.1872C>T (p.Gly624=) SNV Benign 333265 rs2230101 GRCh37: 2:191843583-191843583
GRCh38: 2:190978857-190978857
99 STAT1 NM_007315.3(STAT1):c.354C>T (p.Asn118=) SNV Benign 333290 rs45463799 GRCh37: 2:191872307-191872307
GRCh38: 2:191007581-191007581
100 STAT1 NM_007315.4(STAT1):c.1127+9C>T SNV Benign 791049 rs201370851 GRCh37: 2:191851756-191851756
GRCh38: 2:190987030-190987030
101 STAT1 NM_007315.3(STAT1):c.1155G>A (p.Thr385=) SNV Benign 333279 rs41270237 GRCh37: 2:191851646-191851646
GRCh38: 2:190986920-190986920
102 STAT1 NM_007315.3(STAT1):c.1098-12dup Duplication Benign 541831 rs200288904 GRCh37: 2:191851798-191851799
GRCh38: 2:190987072-190987073
103 STAT1 NM_007315.3(STAT1):c.1097+10C>G SNV Benign 333282 rs41488044 GRCh37: 2:191854331-191854331
GRCh38: 2:190989605-190989605
104 STAT1 NM_007315.3(STAT1):c.990G>A (p.Gln330=) SNV Benign 333284 rs41509946 GRCh37: 2:191856001-191856001
GRCh38: 2:190991275-190991275
105 STAT1 NM_007315.3(STAT1):c.793A>G (p.Ile265Val) SNV Benign 541826 rs148775168 GRCh37: 2:191859938-191859938
GRCh38: 2:190995212-190995212
106 STAT1 NM_007315.3(STAT1):c.1257G>A (p.Thr419=) SNV Benign 541827 rs73979321 GRCh37: 2:191850351-191850351
GRCh38: 2:190985625-190985625
107 STAT1 NM_007315.3(STAT1):c.463-8G>C SNV Benign 541828 rs2066794 GRCh37: 2:191864438-191864438
GRCh38: 2:190999712-190999712
108 STAT1 NM_007315.3(STAT1):c.2019A>G (p.Lys673=) SNV Benign 474981 rs35098579 GRCh37: 2:191841606-191841606
GRCh38: 2:190976880-190976880
109 STAT1 NM_007315.3(STAT1):c.1116T>C (p.Asn372=) SNV Benign 333281 rs55891000 GRCh37: 2:191851776-191851776
GRCh38: 2:190987050-190987050
110 STAT1 NM_007315.3(STAT1):c.2136T>G (p.Val712=) SNV Benign 474982 rs35364817 GRCh37: 2:191839658-191839658
GRCh38: 2:190974932-190974932
111 STAT1 NM_007315.3(STAT1):c.1347+8T>G SNV Benign 333272 rs16833147 GRCh37: 2:191849028-191849028
GRCh38: 2:190984302-190984302
112 STAT1 NM_007315.3(STAT1):c.1314A>G (p.Gln438=) SNV Benign 333274 rs138091660 GRCh37: 2:191849069-191849069
GRCh38: 2:190984343-190984343

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

72 (showing 3, show less)
# 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

Pathways related to Immunodeficiency 31b according to GeneCards Suite gene sharing:

(showing 9, show less)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.78 STAT1 RAG1 IL12RB1 IKBKG
2 12.36 STAT1 IL12RB1 IKBKG
3
Show member pathways
11.97 STAT1 IL12RB1 IKBKG
4
Show member pathways
11.86 STAT1 IL12RB1 IKBKG
5 11.65 STAT1 RAG1 IKBKG
6
Show member pathways
11.4 IL12RB1 IKBKG
7
Show member pathways
11.36 STAT1 IL12RB1
8
Show member pathways
11.2 STAT1 IL12RB1
9 10.2 RAG1 IKBKG

GO Terms for Immunodeficiency 31b

Biological processes related to Immunodeficiency 31b according to GeneCards Suite gene sharing:

(showing 2, show less)
# Name GO ID Score Top Affiliating Genes
1 cellular response to interferon-gamma GO:0071346 8.96 STAT1 IL12RB1
2 positive regulation of defense response to virus by host GO:0002230 8.62 STAT1 IL12RB1

Sources for Immunodeficiency 31b

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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