IMD30
MCID: IMM096
MIFTS: 41

Immunodeficiency 30 (IMD30)

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

Aliases & Classifications for Immunodeficiency 30

MalaCards integrated aliases for Immunodeficiency 30:

Name: Immunodeficiency 30 57 12 72 29 6 15 70
Mendelian Susceptibility to Mycobacterial Diseases Due to Complete Il12rb1 Deficiency 12 20 58
Mendelian Susceptibility to Interleukin 12 Receptor Beta 1 Deficiency 12 20 58
Msmd Due to Complete Interleukin 12 Receptor Beta 1 Deficiency 12 20 58
Msmd Due to Complete Il12rb1 Deficiency 12 20 58
Il12rb1 Deficiency 57 20 72
Imd30 57 12 72
Mendelian Susceptibility to Mycobacterial Infections Due to Il12 Deficiency 20
Immunodeficiency, Type 30 39
Il-12râ1 Deficiency 20

Characteristics:

Orphanet epidemiological data:

58
mendelian susceptibility to mycobacterial diseases due to complete il12rb1 deficiency
Inheritance: Autosomal recessive; Age of onset: Childhood; Age of death: adult;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset usually in childhood after bcg vaccination


HPO:

31
immunodeficiency 30:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0111990
OMIM® 57 614891
OMIM Phenotypic Series 57 PS300755
ICD10 via Orphanet 33 D84.8
Orphanet 58 ORPHA319552
SNOMED-CT via HPO 68 234532001 258211005
UMLS 70 C4013949

Summaries for Immunodeficiency 30

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 319552 Definition Mendelian susceptibility to mycobacterial diseases (MSMD) due to complete interleukin-12 receptor subunit beta-1 (IL12RB1) deficiency is a genetic variant of MSMD (see this term) characterized by mild bacillus Calmette-Guerin (BCG) infections and recurrent Salmonella infections. Epidemiology The prevalence is unknown. Over 140 cases have been reported in the world. Clinical description Disease onset usually occurs in patients before the age of 12 with the appearance of BCG disease, usually after receiving the vaccination. Over half of patients with this variant experience an additional infection with non-typhoidal Salmonella. Severe tuberculosis caused by Mycobacterium tuberculosis has been reported in several unrelated patients, providing the first documented evidence of a mendelian predisposition to tuberculosis. Other infections with Paracoccidiodes brasiliensis, Leishmania and Klebsiella have been reported in a single patient. Some patients also suffer from Candida infections. Most genetically affected siblings of index cases are asymptomatic, indicating low penetrance for case definition phenotypes. Etiology MSMD due to complete IL12RB1 deficiency is caused by mutations in the IL12RB1 gene (19p13.1) subunit that encodes for the IL-12R-beta1 chain. These mutations impair the IL-12/IL-23 pathway essential for production of IFN-beta and the resulting immunity against Salmonella and BCG infections. Two clinically indistinguishable forms have been reported defined by the presence or absence of protein expression on the cell surface. Diagnostic methods Diagnosis is made by laboratory analysis. In general, there is no expression of IL12RB1 at the surface of activated T- lymphocytes and NK cells. For the moment, only one mutation of IL12 RB1 leads to residual expression of the receptor on the cell surface. Low IFN-gamma levels are measured by ELISA after whole blood activation by BCG and BCG+IL-12. Genetic testing reveals mutations in IL12RB1. Impaired development of the Th17 cells is demonstrated in patients with this immunodeficiency. Differential diagnosis Other genetic etiologies of MSMD should be excluded. Antenatal diagnosis This immunodeficiency is not severe and antenatal diagnosis is not necessary. Genetic counseling MSMD due to complete IL12RB1 deficiency is inherited in an autosomal recessive manner so genetic counseling is possible. Management and treatment BCG vaccination should be avoided in those with a known mutation in the IL12RB1 gene. Treatment is usually attained from long term antimicrobial therapy combined with recombinant IFN-gamma. For those who have localized splenic/mesenteric lesions with poor drug penetration, surgical removal is indicated. Prognosis With proper treatment the prognosis is usually good with most patients reaching adulthood.

MalaCards based summary : Immunodeficiency 30, also known as mendelian susceptibility to mycobacterial diseases due to complete il12rb1 deficiency, is related to atypical mycobacteriosis, familial and tuberculous salpingitis. An important gene associated with Immunodeficiency 30 is IL12RB1 (Interleukin 12 Receptor Subunit Beta 1), and among its related pathways/superpathways are Pathways in cancer and Immune response NFAT in immune response. Affiliated tissues include nk cells, whole blood and t cells, and related phenotypes are immunodeficiency and recurrent mycobacterial infections

Disease Ontology : 12 A T cell and NK cell immunodeficiency characterized by absence of responses to IL12 and IL23 in T calls and NK cells that has material basis in homozygous or compound heterozygous mutation in IL12RB1 on chromosome 19p13.11.

OMIM® : 57 IMD30 results from autosomal recessive IL12RB1 deficiency and is the most common form of susceptibility to mycobacterial disease. Activated T and natural killer lymphocytes from IMD30 patients do not express IL12RB1 on their surface or, more rarely, express nonfunctional IL12RB1 on their surface. IMD30 patients therefore lack responses to IL12 (see 161560) and IL23 (see 605580). The clinical presentation of IL12RB1-deficient patients is similar to that of IL12B-deficient patients (see IMD29, 614890). Bacillus Calmette-Guerin (BCG) disease and salmonellosis are the most frequent infections. Salmonellosis is present in about half of IL12RB1-deficient patients, and significant numbers of patients present with isolated salmonellosis. Severe tuberculosis has been reported in several unrelated patients, and other infections have been reported in single patients. IMD30 has low penetrance, and patients have relatively mild disease and good prognosis (review by Al-Muhsen and Casanova, 2008). (614891) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Immunodeficiency 30: 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. IMD30 has low penetrance, and affected individuals have relatively mild disease and good prognosis. BCG disease and salmonellosis are the most frequent infections in IMD30 patients.

Related Diseases for Immunodeficiency 30

Graphical network of the top 20 diseases related to Immunodeficiency 30:



Diseases related to Immunodeficiency 30

Symptoms & Phenotypes for Immunodeficiency 30

Human phenotypes related to Immunodeficiency 30:

31
# Description HPO Frequency HPO Source Accession
1 immunodeficiency 31 HP:0002721
2 recurrent mycobacterial infections 31 HP:0011274

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Immunology:
increased susceptibility to systemic infections, particularly mycobacteria, candida, and salmonella
decreased or absent il12r-beta-1 expression on t cells
patient cells show no gamma-interferon response to il12

Clinical features from OMIM®:

614891 (Updated 05-Apr-2021)

Drugs & Therapeutics for Immunodeficiency 30

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 30

Genetic Tests for Immunodeficiency 30

Genetic tests related to Immunodeficiency 30:

# Genetic test Affiliating Genes
1 Immunodeficiency 30 29 IL12RB1

Anatomical Context for Immunodeficiency 30

MalaCards organs/tissues related to Immunodeficiency 30:

40
Nk Cells, Whole Blood, T Cells

Publications for Immunodeficiency 30

Articles related to Immunodeficiency 30:

(show all 30)
# Title Authors PMID Year
1
Lethal tuberculosis in a previously healthy adult with IL-12 receptor deficiency. 57 6
21487897 2011
2
Interleukin-12 receptor beta 1 chain deficiency in a child with disseminated tuberculosis. 57 6
15736007 2005
3
Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications. 6 57
12591909 2003
4
Severe mycobacterial and Salmonella infections in interleukin-12 receptor-deficient patients. 57 6
9603733 1998
5
Three novel compound heterozygous IL12RB1 mutations in Chinese patients with Mendelian susceptibility to mycobacterial disease. 6
30998751 2019
6
Susceptibility to mycobacterial disease due to mutations in IL-12Rβ1 in three Iranian patients. 6
29256176 2018
7
IL-12 drives functional plasticity of human group 2 innate lymphoid cells. 6
26976630 2016
8
Mendelian Susceptibility to Mycobacterial Disease due to IL-12Rβ1 Deficiency in Three Iranian Children. 6
27141500 2016
9
Molecular analysis for patients with IL-12 receptor β1 deficiency. 57
23952477 2014
10
Clinical features of Candidiasis in patients with inherited interleukin 12 receptor β1 deficiency. 6
24186907 2014
11
IL-12Rβ1 deficiency: mutation update and description of the IL12RB1 variation database. 57
23864330 2013
12
Combined IL-12 receptor and IgA deficiency in an adult man intestinally infested by an unknown, non-cultivable mycobacterium. 6
21812800 2011
13
Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries. 6
21057261 2010
14
A 475 years-old founder effect involving IL12RB1: a highly prevalent mutation conferring Mendelian Susceptibility to Mycobacterial Diseases in European descendants. 6
19460324 2009
15
The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases. 57
19084105 2008
16
Disseminated Mycobacterium avium infection in a patient with a novel mutation in the interleukin-12 receptor-beta1 chain. 6
18940359 2008
17
Molecular complementation of IL-12Rbeta1 deficiency reveals functional differences between IL-12Rbeta1 alleles including partial IL-12Rbeta1 deficiency. 6
16293671 2005
18
A novel form of complete IL-12/IL-23 receptor beta1 deficiency with cell surface-expressed nonfunctional receptors. 6
15178580 2004
19
Interleukin-12 receptor beta1 deficiency presenting as recurrent Salmonella infection. 6
12830418 2003
20
Severe Mycobacterium bovis BCG infections in a large series of novel IL-12 receptor beta1 deficient patients and evidence for the existence of partial IL-12 receptor beta1 deficiency. 6
12594833 2003
21
Interleukin-12 receptor beta1 deficiency in a patient with abdominal tuberculosis. 6
11424023 2001
22
Impairment of mycobacterial immunity in human interleukin-12 receptor deficiency. 57
9603732 1998
23
Microbial Disease Spectrum Linked to a Novel IL-12Rβ1 N-Terminal Signal Peptide Stop-Gain Homozygous Mutation with Paradoxical Receptor Cell-Surface Expression. 61
28450854 2017
24
Gastric cancer in three relatives of a patient with a biallelic IL12RB1 mutation. 61
25467645 2015
25
[Survival analysis of hematopoietic stem cell transplantation in children with primary immunodeficiency in Spain]. 61
24857430 2015
26
Primary immunodeficiency disorders in Kuwait: first report from Kuwait National Primary Immunodeficiency Registry (2004--2006). 61
18008151 2008
27
Salivary lysozyme levels in patients with primary immunodeficiencies. 61
15808111 2005
28
[Diagnosis and differentiated treatment of secondary immunodeficiencies]. 61
11494450 2001
29
Neonatal and infantile erythrodermas: a retrospective study of 51 patients. 61
10890989 2000
30
Primary hypogammaglobulinaemia and arthritis. 61
3115363 1987

Variations for Immunodeficiency 30

ClinVar genetic disease variations for Immunodeficiency 30:

6 (show top 50) (show all 197)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IL12RB1 NM_005535.3(IL12RB1):c.1126C>T (p.Gln376Ter) SNV Pathogenic 8033 rs121434493 GRCh37: 19:18180419-18180419
GRCh38: 19:18069609-18069609
2 IL12RB1 IL12RB1, 409-549DEL Deletion Pathogenic 8034 GRCh37:
GRCh38:
3 IL12RB1 NM_005535.3(IL12RB1):c.637C>T (p.Arg213Trp) SNV Pathogenic 8035 rs121434494 GRCh37: 19:18186622-18186622
GRCh38: 19:18075812-18075812
4 IL12RB1 NM_005535.3(IL12RB1):c.1021+1G>C SNV Pathogenic 8037 rs587776680 GRCh37: 19:18182921-18182921
GRCh38: 19:18072111-18072111
5 IL12RB1 NM_005535.3(IL12RB1):c.592T>C (p.Cys198Arg) SNV Pathogenic 8038 rs121434495 GRCh37: 19:18186667-18186667
GRCh38: 19:18075857-18075857
6 IL12RB1 IL12RB1, 3-BP DEL, EX10 Deletion Pathogenic 155909 GRCh37:
GRCh38:
7 IL12RB1 NC_000019.10:g.(?_18073497)_(18073619_?)del Deletion Pathogenic 832339 GRCh37: 19:18184307-18184429
GRCh38:
8 IL12RB1 NM_005535.3(IL12RB1):c.169del (p.Ser57fs) Deletion Pathogenic 661930 rs1599555124 GRCh37: 19:18193030-18193030
GRCh38: 19:18082220-18082220
9 IL12RB1 NM_005535.3(IL12RB1):c.1765del (p.Ala589fs) Deletion Pathogenic 803545 rs1476855887 GRCh37: 19:18171958-18171958
GRCh38: 19:18061148-18061148
10 IL12RB1 NM_005535.3(IL12RB1):c.1266_1279del (p.Pro424fs) Deletion Pathogenic 961244 GRCh37: 19:18179247-18179260
GRCh38: 19:18068437-18068450
11 IL12RB1 NM_005535.3(IL12RB1):c.847C>T (p.Arg283Ter) SNV Pathogenic 965792 GRCh37: 19:18183096-18183096
GRCh38: 19:18072286-18072286
12 IL12RB1 NM_005535.3(IL12RB1):c.251_254del (p.Gly84fs) Deletion Pathogenic 580899 rs1568515222 GRCh37: 19:18191797-18191800
GRCh38: 19:18080987-18080990
13 IL12RB1 NM_005535.3(IL12RB1):c.1623_1624delinsTT (p.Gln542Ter) Indel Pathogenic 853655 GRCh37: 19:18173082-18173083
GRCh38: 19:18062272-18062273
14 IL12RB1 NM_005535.3(IL12RB1):c.1598_1604delinsCCG (p.Gln533fs) Indel Pathogenic 964750 GRCh37: 19:18174700-18174706
GRCh38: 19:18063890-18063896
15 IL12RB1 NM_005535.3(IL12RB1):c.94C>T (p.Gln32Ter) SNV Pathogenic 8032 rs121434492 GRCh37: 19:18194272-18194272
GRCh38: 19:18083462-18083462
16 IL12RB1 NM_005535.3(IL12RB1):c.1791+2T>G SNV Pathogenic 579038 rs554063682 GRCh37: 19:18171930-18171930
GRCh38: 19:18061120-18061120
17 IL12RB1 and overlap with 1 gene(s) NM_005535.2(IL12RB1):c.700+362_1619-944del Deletion Pathogenic 8036 GRCh37: 19:18174031-18186197
GRCh38: 19:18063221-18075387
18 IL12RB1 NM_005535.3(IL12RB1):c.559G>T (p.Gly187Ter) SNV Pathogenic 576660 rs564884307 GRCh37: 19:18187128-18187128
GRCh38: 19:18076318-18076318
19 IL12RB1 NM_005535.3(IL12RB1):c.124+1G>T SNV Likely pathogenic 950360 GRCh37: 19:18194241-18194241
GRCh38: 19:18083431-18083431
20 IL12RB1 NM_005535.3(IL12RB1):c.1618+1G>T SNV Likely pathogenic 858475 GRCh37: 19:18174685-18174685
GRCh38: 19:18063875-18063875
21 IL12RB1 NM_005535.3(IL12RB1):c.1914T>C (p.Pro638=) SNV Conflicting interpretations of pathogenicity 328575 rs199686420 GRCh37: 19:18170773-18170773
GRCh38: 19:18059963-18059963
22 IL12RB1 NM_005535.3(IL12RB1):c.390C>T (p.Thr130=) SNV Conflicting interpretations of pathogenicity 791513 rs201723337 GRCh37: 19:18191661-18191661
GRCh38: 19:18080851-18080851
23 IL12RB1 NM_005535.3(IL12RB1):c.1048G>A (p.Gly350Arg) SNV Conflicting interpretations of pathogenicity 580063 rs200811721 GRCh37: 19:18180497-18180497
GRCh38: 19:18069687-18069687
24 IL12RB1 NM_005535.3(IL12RB1):c.1327+9C>A SNV Conflicting interpretations of pathogenicity 328583 rs185883069 GRCh37: 19:18179190-18179190
GRCh38: 19:18068380-18068380
25 IL12RB1 NM_005535.3(IL12RB1):c.930G>A (p.Ser310=) SNV Conflicting interpretations of pathogenicity 328589 rs144647048 GRCh37: 19:18183013-18183013
GRCh38: 19:18072203-18072203
26 IL12RB1 NM_005535.3(IL12RB1):c.320T>C (p.Val107Ala) SNV Conflicting interpretations of pathogenicity 328600 rs150285174 GRCh37: 19:18191731-18191731
GRCh38: 19:18080921-18080921
27 IL12RB1 NM_005535.3(IL12RB1):c.701-6T>C SNV Conflicting interpretations of pathogenicity 328594 rs374699716 GRCh37: 19:18184415-18184415
GRCh38: 19:18073605-18073605
28 IL12RB1 NM_005535.3(IL12RB1):c.1172C>T (p.Pro391Leu) SNV Conflicting interpretations of pathogenicity 474975 rs140254802 GRCh37: 19:18180373-18180373
GRCh38: 19:18069563-18069563
29 IL12RB1 NM_005535.3(IL12RB1):c.261C>T (p.Cys87=) SNV Conflicting interpretations of pathogenicity 541822 rs373545812 GRCh37: 19:18191790-18191790
GRCh38: 19:18080980-18080980
30 IL12RB1 NM_005535.3(IL12RB1):c.1269C>T (p.His423=) SNV Conflicting interpretations of pathogenicity 725141 rs367647802 GRCh37: 19:18179257-18179257
GRCh38: 19:18068447-18068447
31 IL12RB1 NM_005535.3(IL12RB1):c.1132G>A (p.Gly378Arg) SNV Conflicting interpretations of pathogenicity 889373 GRCh37: 19:18180413-18180413
GRCh38: 19:18069603-18069603
32 IL12RB1 NM_005535.3(IL12RB1):c.1912C>T (p.Pro638Ser) SNV Uncertain significance 946802 GRCh37: 19:18170775-18170775
GRCh38: 19:18059965-18059965
33 IL12RB1 NM_005535.3(IL12RB1):c.370G>A (p.Glu124Lys) SNV Uncertain significance 950026 GRCh37: 19:18191681-18191681
GRCh38: 19:18080871-18080871
34 IL12RB1 NM_005535.3(IL12RB1):c.209C>T (p.Thr70Ile) SNV Uncertain significance 963019 GRCh37: 19:18192990-18192990
GRCh38: 19:18082180-18082180
35 IL12RB1 NM_005535.3(IL12RB1):c.488A>C (p.Asp163Ala) SNV Uncertain significance 971520 GRCh37: 19:18188387-18188387
GRCh38: 19:18077577-18077577
36 IL12RB1 NM_005535.3(IL12RB1):c.881AGGCCA[3] (p.294KA[3]) Microsatellite Uncertain significance 1013710 GRCh37: 19:18183050-18183051
GRCh38: 19:18072240-18072241
37 IL12RB1 NM_005535.3(IL12RB1):c.124+4C>T SNV Uncertain significance 1017247 GRCh37: 19:18194238-18194238
GRCh38: 19:18083428-18083428
38 IL12RB1 NM_005535.3(IL12RB1):c.19T>A (p.Trp7Arg) SNV Uncertain significance 1020869 GRCh37: 19:18197615-18197615
GRCh38: 19:18086805-18086805
39 IL12RB1 NM_005535.3(IL12RB1):c.1856T>C (p.Val619Ala) SNV Uncertain significance 1025232 GRCh37: 19:18170831-18170831
GRCh38: 19:18060021-18060021
40 IL12RB1 NM_005535.3(IL12RB1):c.518G>A (p.Arg173Gln) SNV Uncertain significance 1025408 GRCh37: 19:18188357-18188357
GRCh38: 19:18077547-18077547
41 IL12RB1 NM_005535.3(IL12RB1):c.1138C>A (p.Leu380Ile) SNV Uncertain significance 870876 GRCh37: 19:18180407-18180407
GRCh38: 19:18069597-18069597
42 IL12RB1 NM_005535.3(IL12RB1):c.875C>T (p.Pro292Leu) SNV Uncertain significance 1027314 GRCh37: 19:18183068-18183068
GRCh38: 19:18072258-18072258
43 IL12RB1 NM_005535.3(IL12RB1):c.1661G>A (p.Gly554Glu) SNV Uncertain significance 569684 rs369861364 GRCh37: 19:18173045-18173045
GRCh38: 19:18062235-18062235
44 IL12RB1 NM_005535.3(IL12RB1):c.131C>T (p.Ala44Val) SNV Uncertain significance 657241 rs372265041 GRCh37: 19:18193068-18193068
GRCh38: 19:18082258-18082258
45 IL12RB1 NM_005535.3(IL12RB1):c.1415G>A (p.Ser472Asn) SNV Uncertain significance 850939 GRCh37: 19:18177420-18177420
GRCh38: 19:18066610-18066610
46 IL12RB1 NM_005535.3(IL12RB1):c.160C>T (p.Arg54Trp) SNV Uncertain significance 937784 GRCh37: 19:18193039-18193039
GRCh38: 19:18082229-18082229
47 IL12RB1 NM_005535.3(IL12RB1):c.43T>G (p.Phe15Val) SNV Uncertain significance 938207 GRCh37: 19:18197591-18197591
GRCh38: 19:18086781-18086781
48 IL12RB1 NM_005535.3(IL12RB1):c.1984-1G>A SNV Uncertain significance 944835 GRCh37: 19:18170424-18170424
GRCh38: 19:18059614-18059614
49 IL12RB1 NM_005535.3(IL12RB1):c.1617C>A (p.Ile539=) SNV Uncertain significance 955378 GRCh37: 19:18174687-18174687
GRCh38: 19:18063877-18063877
50 IL12RB1 NM_005535.3(IL12RB1):c.250G>A (p.Gly84Arg) SNV Uncertain significance 958374 GRCh37: 19:18191801-18191801
GRCh38: 19:18080991-18080991

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 30:

72
# Symbol AA change Variation ID SNP ID
1 IL12RB1 p.Arg213Trp VAR_015577 rs121434494

Expression for Immunodeficiency 30

Search GEO for disease gene expression data for Immunodeficiency 30.

Pathways for Immunodeficiency 30

Pathways related to Immunodeficiency 30 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 12.27 IL12RB2 IL12RB1 IFNGR2
2
Show member pathways
12.06 IL12RB2 IL12RB1 IFNGR2
3
Show member pathways
11.97 IL12RB2 IL12RB1 IFNGR2
4 11.74 IL12RB2 IL12RB1
5
Show member pathways
11.53 IL12RB2 IL12RB1 IFNGR2
6
Show member pathways
11.49 IL12RB2 IL12RB1
7 11.31 IL12RB2 IL12RB1
8
Show member pathways
10.68 IL12RB2 IL12RB1 IFNGR2
9
Show member pathways
10.62 IL12RB2 IL12RB1

GO Terms for Immunodeficiency 30

Cellular components related to Immunodeficiency 30 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.55 SEZ6L2 MS4A1 IL12RB2 IL12RB1 IFNGR2
2 plasma membrane GO:0005886 9.35 SEZ6L2 MS4A1 IL12RB2 IL12RB1 IFNGR2
3 receptor complex GO:0043235 9.26 IL12RB2 IL12RB1
4 external side of plasma membrane GO:0009897 8.8 MS4A1 IL12RB2 IL12RB1

Biological processes related to Immunodeficiency 30 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of interferon-gamma production GO:0032729 9.16 IL12RB2 IL12RB1
2 interleukin-12-mediated signaling pathway GO:0035722 8.96 IL12RB2 IL12RB1
3 cytokine-mediated signaling pathway GO:0019221 8.8 IL12RB2 IL12RB1 IFNGR2

Molecular functions related to Immunodeficiency 30 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine binding GO:0019955 8.96 IL12RB2 IL12RB1
2 cytokine receptor activity GO:0004896 8.8 IL12RB2 IL12RB1 IFNGR2

Sources for Immunodeficiency 30

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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