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 05-Apr-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 05-Apr-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:

(show all 36)
# 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 immunodeficiency 35 9.9 STAT1 IL12RB1
10 t cell deficiency 9.9 SMARCAL1 RAG1
11 primary systemic mycosis 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 opportunistic mycosis 9.8 STAT1 IL12RB1
30 fungal infectious disease 9.7 STAT1 IL12RB1
31 rigid spine muscular dystrophy 1 9.7 RSPH1 RAG1
32 salmonellosis 9.7 STAT1 IL12RB1
33 immunodeficiency 27b 9.6 STAT1 IL12RB1 IKBKG
34 chronic mucocutaneous candidiasis 9.6 STAT1 IL12RB1 IKBKG
35 combined immunodeficiency 9.4 STAT1 RAG1 IKBKG
36 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
# 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 05-Apr-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 05-Apr-2021)

MGI Mouse Phenotypes related to Immunodeficiency 31b:

46
# 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:

(show all 33)
# Title Authors PMID Year
1
A novel form of human STAT1 deficiency impairing early but not late responses to interferons. 57 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. 57 6
16585605 2006
3
Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency. 6 57
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
Penicillium marneffei infection and impaired IFN-γ immunity in humans with autosomal-dominant gain-of-phosphorylation STAT1 mutations. 6
24188975 2014
22
Fatal combined immunodeficiency associated with heterozygous mutation in STAT1. 6
24239102 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 (show top 50) (show all 112)
# 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_007315.4(STAT1):c.1011_1012del (p.Val339fs) Deletion Pathogenic 961842 GRCh37: 2:191855979-191855980
GRCh38: 2:190991253-190991254
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.1154C>T (p.Thr385Met) SNV Pathogenic 144006 rs587777630 GRCh37: 2:191851647-191851647
GRCh38: 2:190986921-190986921
9 STAT1 NM_007315.3(STAT1):c.820C>T (p.Arg274Trp) SNV Pathogenic 30083 rs387906758 GRCh37: 2:191859911-191859911
GRCh38: 2:190995185-190995185
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_007315.3(STAT1):c.866A>G (p.Tyr289Cys) SNV Pathogenic 541825 rs1553496850 GRCh37: 2:191859865-191859865
GRCh38: 2:190995139-190995139
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_007315.4(STAT1):c.856A>C (p.Lys286Gln) SNV Likely pathogenic 848283 GRCh37: 2:191859875-191859875
GRCh38: 2:190995149-190995149
14 STAT1 NM_007315.4(STAT1):c.863C>T (p.Thr288Ile) SNV Likely pathogenic 848760 GRCh37: 2:191859868-191859868
GRCh38: 2:190995142-190995142
15 STAT1 NM_007315.4(STAT1):c.1310C>T (p.Thr437Ile) SNV Likely pathogenic 852805 GRCh37: 2:191849073-191849073
GRCh38: 2:190984347-190984347
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_007315.3(STAT1):c.1162A>C (p.Lys388Gln) SNV Likely pathogenic 578600 rs1559011859 GRCh37: 2:191851639-191851639
GRCh38: 2:190986913-190986913
18 STAT1 NM_007315.3(STAT1):c.820C>G (p.Arg274Gly) SNV Likely pathogenic 160354 rs387906758 GRCh37: 2:191859911-191859911
GRCh38: 2:190995185-190995185
19 STAT1 NM_007315.3(STAT1):c.876C>A (p.Asp292Glu) SNV Likely pathogenic 426484 rs1085307649 GRCh37: 2:191859855-191859855
GRCh38: 2:190995129-190995129
20 STAT1 NM_007315.3(STAT1):c.970T>C (p.Cys324Arg) SNV Likely pathogenic 643417 rs1574653439 GRCh37: 2:191856021-191856021
GRCh38: 2:190991295-190991295
21 STAT1 NM_007315.3(STAT1):c.876C>A (p.Asp292Glu) SNV Likely pathogenic 426484 rs1085307649 GRCh37: 2:191859855-191859855
GRCh38: 2:190995129-190995129
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 NC_000002.11:g.(?_191835409)_(191835463_?)dup Duplication Uncertain significance 1023507 GRCh37: 2:191835409-191835463
GRCh38:
25 STAT1 NM_007315.3(STAT1):c.478A>C (p.Ile160Leu) SNV Uncertain significance 648892 rs371548986 GRCh37: 2:191864415-191864415
GRCh38: 2:190999689-190999689
26 STAT1 NM_007315.4(STAT1):c.989A>G (p.Gln330Arg) SNV Uncertain significance 960580 GRCh37: 2:191856002-191856002
GRCh38: 2:190991276-190991276
27 STAT1 NM_007315.4(STAT1):c.850G>A (p.Glu284Lys) SNV Uncertain significance 827741 rs1574657750 GRCh37: 2:191859881-191859881
GRCh38: 2:190995155-190995155
28 STAT1 NM_007315.4(STAT1):c.2059+5G>A SNV Uncertain significance 1042523 GRCh37: 2:191841561-191841561
GRCh38: 2:190976835-190976835
29 STAT1 NM_007315.4(STAT1):c.1619C>T (p.Thr540Met) SNV Uncertain significance 1046569 GRCh37: 2:191845359-191845359
GRCh38: 2:190980633-190980633
30 STAT1 NM_007315.4(STAT1):c.955G>A (p.Val319Met) SNV Uncertain significance 944892 GRCh37: 2:191856036-191856036
GRCh38: 2:190991310-190991310
31 STAT1 NM_007315.4(STAT1):c.1591G>A (p.Ala531Thr) SNV Uncertain significance 951668 GRCh37: 2:191845387-191845387
GRCh38: 2:190980661-190980661
32 STAT1 NM_007315.4(STAT1):c.856A>G (p.Lys286Glu) SNV Uncertain significance 959111 GRCh37: 2:191859875-191859875
GRCh38: 2:190995149-190995149
33 STAT1 NM_007315.4(STAT1):c.743T>C (p.Ile248Thr) SNV Uncertain significance 856465 GRCh37: 2:191862624-191862624
GRCh38: 2:190997898-190997898
34 STAT1 NM_007315.4(STAT1):c.1363G>A (p.Val455Ile) SNV Uncertain significance 857074 GRCh37: 2:191848451-191848451
GRCh38: 2:190983725-190983725
35 STAT1 NM_007315.4(STAT1):c.629G>A (p.Arg210Lys) SNV Uncertain significance 859053 GRCh37: 2:191862947-191862947
GRCh38: 2:190998221-190998221
36 STAT1 NM_007315.4(STAT1):c.1263+4A>G SNV Uncertain significance 966259 GRCh37: 2:191850341-191850341
GRCh38: 2:190985615-190985615
37 STAT1 NM_007315.4(STAT1):c.1117A>T (p.Thr373Ser) SNV Uncertain significance 968726 GRCh37: 2:191851775-191851775
GRCh38: 2:190987049-190987049
38 STAT1 NM_007315.4(STAT1):c.1949A>G (p.Asn650Ser) SNV Uncertain significance 968958 GRCh37: 2:191841676-191841676
GRCh38: 2:190976950-190976950
39 STAT1 NM_007315.3(STAT1):c.1765G>T (p.Ala589Ser) SNV Uncertain significance 424473 rs745491762 GRCh37: 2:191843690-191843690
GRCh38: 2:190978964-190978964
40 STAT1 NM_007315.3(STAT1):c.1052T>G (p.Leu351Trp) SNV Uncertain significance 570250 rs1559013693 GRCh37: 2:191854386-191854386
GRCh38: 2:190989660-190989660
41 STAT1 NM_007315.3(STAT1):c.274-4C>G SNV Uncertain significance 333291 rs377209172 GRCh37: 2:191872391-191872391
GRCh38: 2:191007665-191007665
42 STAT1 NM_007315.4(STAT1):c.595C>T (p.Leu199Phe) SNV Uncertain significance 837552 GRCh37: 2:191862981-191862981
GRCh38: 2:190998255-190998255
43 STAT1 NM_007315.4(STAT1):c.2201_2208del (p.Val734fs) Deletion Uncertain significance 839216 GRCh37: 2:191839586-191839593
GRCh38: 2:190974860-190974867
44 STAT1 NM_007315.3(STAT1):c.1090T>C (p.Phe364Leu) SNV Uncertain significance 333283 rs759722579 GRCh37: 2:191854348-191854348
GRCh38: 2:190989622-190989622
45 STAT1 NM_007315.4(STAT1):c.1856G>A (p.Arg619Gln) SNV Uncertain significance 946599 GRCh37: 2:191843599-191843599
GRCh38: 2:190978873-190978873
46 STAT1 NM_007315.4(STAT1):c.2059+6_2059+7del Deletion Uncertain significance 955737 GRCh37: 2:191841559-191841560
GRCh38: 2:190976833-190976834
47 STAT1 NM_007315.4(STAT1):c.623A>G (p.Asn208Ser) SNV Uncertain significance 965794 GRCh37: 2:191862953-191862953
GRCh38: 2:190998227-190998227
48 STAT1 NM_007315.4(STAT1):c.541+6G>C SNV Uncertain significance 998635 GRCh37: 2:191864346-191864346
GRCh38: 2:190999620-190999620
49 STAT1 NM_007315.3(STAT1):c.1632+6G>A SNV Uncertain significance 333271 rs185216067 GRCh37: 2:191845340-191845340
GRCh38: 2:190980614-190980614
50 STAT1 NM_007315.3(STAT1):c.1757G>A (p.Arg586Gln) SNV Uncertain significance 580685 rs144788879 GRCh37: 2:191843698-191843698
GRCh38: 2:190978972-190978972

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

72
# 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:

# 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:

# 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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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