IMD16
MCID: IMM074
MIFTS: 46

Immunodeficiency 16 (IMD16)

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

Aliases & Classifications for Immunodeficiency 16

MalaCards integrated aliases for Immunodeficiency 16:

Name: Immunodeficiency 16 57 12 72 29 6 15 70
Ox40 Deficiency 57 12 72
Imd16 57 12 72
Combined Immunodeficiency with Impaired Immunity to Human Herpes Virus 8 12 58
Combined Immunodeficiency with Childhood-Onset Kaposi Sarcoma 12 58
Combined Immunodeficiency with Impaired Immunity to Hhv-8 12 58
Combined Immunodeficiency Due to Ox40 Deficiency 12 58
Immunodeficiency, Type 16 39

Characteristics:

Orphanet epidemiological data:

58
combined immunodeficiency due to ox40 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood;

OMIM®:

57 (Updated 20-May-2021)
Miscellaneous:
juvenile onset
one patient has been reported (last curated june 2016)
kaposi sarcoma lesions may be disseminated

Inheritance:
autosomal recessive


HPO:

31
immunodeficiency 16:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0111935
OMIM® 57 615593
OMIM Phenotypic Series 57 PS300755
MeSH 44 D007153
ICD10 via Orphanet 33 D81.8
Orphanet 58 ORPHA431149
UMLS 70 C3810053

Summaries for Immunodeficiency 16

Disease Ontology : 12 A combined T cell and B cell immunodeficiency characterized by classic Kaposi sarcoma of childhood, poor T-cell recall immune responses, and decrease in the proportion of circulating memory B cells that has material basis in homozygous or compound heterozygous mutation in TNFRSF4 on chromosome 1p36.33.

MalaCards based summary : Immunodeficiency 16, also known as ox40 deficiency, is related to mixed oligodendroglioma-astrocytoma and inflammatory bowel disease 5. An important gene associated with Immunodeficiency 16 is TNFRSF4 (TNF Receptor Superfamily Member 4), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. Affiliated tissues include b cells, skin and bone, and related phenotypes are kaposi's sarcoma and splenomegaly

OMIM® : 57 Immunodeficiency-16 is an autosomal recessive primary immunodeficiency associated with classic Kaposi sarcoma of childhood and poor T-cell recall immune responses due to complete functional OX40 deficiency (Byun et al., 2013). (615593) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 Immunodeficiency 16: An autosomal recessive primary immunodeficiency associated with classic Kaposi sarcoma of childhood and poor T-cell recall immune responses due to complete functional OX40 deficiency.

Related Diseases for Immunodeficiency 16

Diseases related to Immunodeficiency 16 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 307)
# Related Disease Score Top Affiliating Genes
1 mixed oligodendroglioma-astrocytoma 10.3 TNFRSF9 TNFRSF4
2 inflammatory bowel disease 5 10.3 ICOSLG CCR6
3 immunodeficiency 11 10.3 CCR6 CARMIL2
4 autoimmune cardiomyopathy 10.2 ICOSLG CD28
5 immunodeficiency 35 10.2 IL12RB1 ICOSLG CCR6
6 inflammatory bowel disease 18 10.2 CD28 CCR6
7 mulchandani-bhoj-conlin syndrome 10.2 ICOSLG CD27 CCR6
8 polyradiculopathy 10.2 ICOSLG CD4
9 scabies 10.2 CD4 CCR6
10 selective immunoglobulin deficiency disease 10.2 ICOSLG CD8A
11 suppurative lymphadenitis 10.2 CD4 CCR6
12 transverse myelitis 10.2 ICOSLG CD27 CCR6
13 myelitis 10.2 ICOSLG CD27 CCR6
14 monoclonal gammopathy of uncertain significance 10.2 ICOSLG CD27 CCR6
15 herpes simplex virus keratitis 10.2 CD4 CCR6
16 mikulicz disease 10.1 CD4 CCR6
17 chancroid 10.1 CD4 CCR6
18 anti-basement membrane glomerulonephritis 10.1 CD4 CCR6
19 subcutaneous mycosis 10.1 CD4 CCR6
20 blastomycosis 10.1 CD4 CCR6
21 autoimmune neuropathy 10.1 ICOSLG CD4
22 immunodeficiency 14 10.1 CD8A CARMIL2
23 opportunistic bacterial infectious disease 10.1 IL12RB1 CD4
24 nocardiosis 10.1 IL12RB1 CD4
25 dysgammaglobulinemia 10.1 ICOSLG CD8A
26 autoimmune vasculitis 10.1 CD4 CCR6
27 abdominal tuberculosis 10.1 IL12RB1 CD4
28 bacterial infectious disease 10.1 ICOSLG CD4 CCR6
29 malignant ovarian surface epithelial-stromal neoplasm 10.1 ICOSLG CD8A CCR6
30 mucormycosis 10.1 CD4 CCR6
31 ovary epithelial cancer 10.1 ICOSLG CD8A CCR6
32 pars planitis 10.1 CD28 CD27 CCR6
33 legume allergy 10.1 ICOSLG CD4 CCR6
34 fruit allergy 10.1 ICOSLG CD4 CCR6
35 acute proliferative glomerulonephritis 10.1 ICOSLG CD4 CCR6
36 childhood type dermatomyositis 10.1 ICOSLG CD4 CCR6
37 klebsiella pneumonia 10.1 ICOSLG CD4 CCR6
38 hypersensitivity reaction type iii disease 10.1 ICOSLG CD4 CCR6
39 respiratory allergy 10.0 ICOSLG CD4 CCR6
40 cork-handlers' disease 10.0 CD8A CD4
41 bullous skin disease 10.0 ICOSLG CD4 CCR6
42 necrotic uveal melanoma 10.0 CD8A CD4
43 thrombocytopenic purpura, autoimmune 10.0 ICOSLG CD4 CCR6
44 nasal cavity disease 10.0 ICOSLG CD4 CCR6
45 common cold 10.0 ICOSLG CD4 CCR6
46 agammaglobulinemia, x-linked 10.0 ICOSLG CD4 CCR6
47 early yaws 10.0 CD8A CD4
48 ventilation pneumonitis 10.0 CD8A CD4
49 cranial nerve disease 10.0 ICOSLG CD4 CCR6
50 diffuse infiltrative lymphocytosis syndrome 10.0 CD8A CD4

Graphical network of the top 20 diseases related to Immunodeficiency 16:



Diseases related to Immunodeficiency 16

Symptoms & Phenotypes for Immunodeficiency 16

Human phenotypes related to Immunodeficiency 16:

31
# Description HPO Frequency HPO Source Accession
1 kaposi's sarcoma 31 very rare (1%) HP:0100726
2 splenomegaly 31 HP:0001744
3 immunodeficiency 31 HP:0002721
4 pancytopenia 31 HP:0001876
5 coombs-positive hemolytic anemia 31 HP:0004844

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin Nails Hair Skin:
kaposi sarcoma, human herpes virus-8 (hhv8)-associated

Neoplasia:
kaposi sarcoma, hhv-8-associated

Immunology:
impaired memory cd4+ t cell response to recall antigens

Clinical features from OMIM®:

615593 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Immunodeficiency 16 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Reduced mammosphere formation GR00396-S 9.17 CCR6 CD27 CD28 TNFRSF4 TNFRSF9 TNFSF18

MGI Mouse Phenotypes related to Immunodeficiency 16:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.73 CARMIL2 CCR6 CD27 CD28 CD4 CD70
2 immune system MP:0005387 9.4 CARMIL2 CCR6 CD27 CD28 CD4 CD70

Drugs & Therapeutics for Immunodeficiency 16

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 16

Genetic Tests for Immunodeficiency 16

Genetic tests related to Immunodeficiency 16:

# Genetic test Affiliating Genes
1 Immunodeficiency 16 29 TNFRSF4

Anatomical Context for Immunodeficiency 16

MalaCards organs/tissues related to Immunodeficiency 16:

40
B Cells, Skin, Bone, Thymus, Lung, Myeloid, Bone Marrow

Publications for Immunodeficiency 16

Articles related to Immunodeficiency 16:

# Title Authors PMID Year
1
Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood. 57 6
23897980 2013
2
Classic Kaposi sarcoma in 3 unrelated Turkish children born to consanguineous kindreds. 57
20156905 2010
3
Seronegative celiac disease: Shedding light on an obscure clinical entity. 61
27352981 2016
4
The etiologies of non-CF bronchiectasis in childhood: a systematic review of 989 subjects. 61
25492164 2014

Variations for Immunodeficiency 16

ClinVar genetic disease variations for Immunodeficiency 16:

6 (show top 50) (show all 74)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TNFRSF4 NM_003327.4(TNFRSF4):c.193C>T (p.Arg65Cys) SNV Pathogenic 96692 rs587777075 GRCh37: 1:1149118-1149118
GRCh38: 1:1213738-1213738
2 TNFRSF4 NM_003327.4(TNFRSF4):c.614G>C (p.Arg205Pro) SNV Uncertain significance 854797 GRCh37: 1:1147342-1147342
GRCh38: 1:1211962-1211962
3 TNFRSF4 NM_003327.4(TNFRSF4):c.194G>A (p.Arg65His) SNV Uncertain significance 855630 GRCh37: 1:1149117-1149117
GRCh38: 1:1213737-1213737
4 TNFRSF4 NM_003327.4(TNFRSF4):c.76G>A (p.Val26Met) SNV Uncertain significance 859436 GRCh37: 1:1149432-1149432
GRCh38: 1:1214052-1214052
5 TNFRSF4 NM_003327.4(TNFRSF4):c.822G>A (p.Leu274=) SNV Uncertain significance 641277 rs1403848680 GRCh37: 1:1146947-1146947
GRCh38: 1:1211567-1211567
6 TNFRSF4 NM_003327.4(TNFRSF4):c.34C>T (p.Pro12Ser) SNV Uncertain significance 654359 rs746209318 GRCh37: 1:1149474-1149474
GRCh38: 1:1214094-1214094
7 TNFRSF4 NM_003327.4(TNFRSF4):c.604C>T (p.Pro202Ser) SNV Uncertain significance 657155 rs776572462 GRCh37: 1:1147352-1147352
GRCh38: 1:1211972-1211972
8 TNFRSF4 NM_003327.4(TNFRSF4):c.408C>T (p.Gly136=) SNV Uncertain significance 658613 rs367869917 GRCh37: 1:1148047-1148047
GRCh38: 1:1212667-1212667
9 TNFRSF4 NM_003327.4(TNFRSF4):c.614G>A (p.Arg205Gln) SNV Uncertain significance 662193 rs749385408 GRCh37: 1:1147342-1147342
GRCh38: 1:1211962-1211962
10 TNFRSF4 NM_003327.4(TNFRSF4):c.152G>C (p.Gly51Ala) SNV Uncertain significance 663490 rs926489272 GRCh37: 1:1149159-1149159
GRCh38: 1:1213779-1213779
11 TNFRSF4 NM_003327.4(TNFRSF4):c.698T>C (p.Ile233Thr) SNV Uncertain significance 961980 GRCh37: 1:1147149-1147149
GRCh38: 1:1211769-1211769
12 TNFRSF4 NM_003327.4(TNFRSF4):c.80C>T (p.Thr27Met) SNV Uncertain significance 569090 rs775900244 GRCh37: 1:1149428-1149428
GRCh38: 1:1214048-1214048
13 TNFRSF4 NM_003327.4(TNFRSF4):c.146-2A>G SNV Uncertain significance 580337 rs983879173 GRCh37: 1:1149167-1149167
GRCh38: 1:1213787-1213787
14 TNFRSF4 NM_003327.4(TNFRSF4):c.448G>T (p.Ala150Ser) SNV Uncertain significance 581981 rs1285284406 GRCh37: 1:1147508-1147508
GRCh38: 1:1212128-1212128
15 TNFRSF4 NM_003327.4(TNFRSF4):c.423C>T (p.Cys141=) SNV Uncertain significance 835161 GRCh37: 1:1148032-1148032
GRCh38: 1:1212652-1212652
16 TNFRSF4 NM_003327.4(TNFRSF4):c.35C>G (p.Pro12Arg) SNV Uncertain significance 845726 GRCh37: 1:1149473-1149473
GRCh38: 1:1214093-1214093
17 TNFRSF4 NM_003327.4(TNFRSF4):c.206C>T (p.Pro69Leu) SNV Uncertain significance 938036 GRCh37: 1:1149105-1149105
GRCh38: 1:1213725-1213725
18 TNFRSF4 NM_003327.4(TNFRSF4):c.631G>A (p.Gly211Arg) SNV Uncertain significance 950362 GRCh37: 1:1147325-1147325
GRCh38: 1:1211945-1211945
19 TNFRSF4 NM_003327.4(TNFRSF4):c.173G>T (p.Arg58Leu) SNV Uncertain significance 964744 GRCh37: 1:1149138-1149138
GRCh38: 1:1213758-1213758
20 TNFRSF4 NM_003327.4(TNFRSF4):c.801G>C (p.Gln267His) SNV Uncertain significance 966997 GRCh37: 1:1146968-1146968
GRCh38: 1:1211588-1211588
21 TNFRSF4 NM_003327.4(TNFRSF4):c.437+5G>A SNV Uncertain significance 999662 GRCh37: 1:1148013-1148013
GRCh38: 1:1212633-1212633
22 TNFRSF4 NM_003327.4(TNFRSF4):c.239C>T (p.Pro80Leu) SNV Uncertain significance 1003348 GRCh37: 1:1149072-1149072
GRCh38: 1:1213692-1213692
23 TNFRSF4 NM_003327.4(TNFRSF4):c.371A>G (p.Asp124Gly) SNV Uncertain significance 1003989 GRCh37: 1:1148084-1148084
GRCh38: 1:1212704-1212704
24 TNFRSF4 NM_003327.4(TNFRSF4):c.7G>A (p.Val3Met) SNV Uncertain significance 1011115 GRCh37: 1:1149501-1149501
GRCh38: 1:1214121-1214121
25 TNFRSF4 NM_003327.4(TNFRSF4):c.721C>T (p.Arg241Trp) SNV Uncertain significance 578388 rs1006323015 GRCh37: 1:1147126-1147126
GRCh38: 1:1211746-1211746
26 TNFRSF4 NM_003327.4(TNFRSF4):c.764-2del Deletion Uncertain significance 640195 rs1253678132 GRCh37: 1:1147007-1147007
GRCh38: 1:1211627-1211627
27 TNFRSF4 NM_003327.4(TNFRSF4):c.197C>T (p.Pro66Leu) SNV Uncertain significance 651759 rs370919067 GRCh37: 1:1149114-1149114
GRCh38: 1:1213734-1213734
28 TNFRSF4 NM_003327.4(TNFRSF4):c.634+8C>T SNV Uncertain significance 941602 GRCh37: 1:1147314-1147314
GRCh38: 1:1211934-1211934
29 TNFRSF4 NM_003327.4(TNFRSF4):c.805G>A (p.Asp269Asn) SNV Uncertain significance 959109 GRCh37: 1:1146964-1146964
GRCh38: 1:1211584-1211584
30 TNFRSF4 NM_003327.4(TNFRSF4):c.763+6T>A SNV Uncertain significance 970491 GRCh37: 1:1147078-1147078
GRCh38: 1:1211698-1211698
31 TNFRSF4 NM_003327.4(TNFRSF4):c.509del (p.Asp170fs) Deletion Uncertain significance 1015210 GRCh37: 1:1147447-1147447
GRCh38: 1:1212067-1212067
32 TNFRSF4 NM_003327.4(TNFRSF4):c.332C>T (p.Ala111Val) SNV Uncertain significance 1017107 GRCh37: 1:1148410-1148410
GRCh38: 1:1213030-1213030
33 overlap with 3 genes NC_000001.10:g.(?_1146915)_(1168668_?)dup Duplication Uncertain significance 1020063 GRCh37: 1:1146915-1168668
GRCh38:
34 TNFRSF4 NM_003327.4(TNFRSF4):c.472G>T (p.Ala158Ser) SNV Uncertain significance 655146 rs755162827 GRCh37: 1:1147484-1147484
GRCh38: 1:1212104-1212104
35 TNFRSF4 NM_003327.4(TNFRSF4):c.202G>A (p.Gly68Arg) SNV Uncertain significance 837159 GRCh37: 1:1149109-1149109
GRCh38: 1:1213729-1213729
36 TNFRSF4 NM_003327.4(TNFRSF4):c.264C>A (p.Asn88Lys) SNV Uncertain significance 848408 GRCh37: 1:1149047-1149047
GRCh38: 1:1213667-1213667
37 TNFRSF4 NM_003327.4(TNFRSF4):c.745G>A (p.Asp249Asn) SNV Uncertain significance 854031 GRCh37: 1:1147102-1147102
GRCh38: 1:1211722-1211722
38 TNFRSF4 NM_003327.4(TNFRSF4):c.223G>A (p.Val75Met) SNV Uncertain significance 942906 GRCh37: 1:1149088-1149088
GRCh38: 1:1213708-1213708
39 TNFRSF4 NM_003327.4(TNFRSF4):c.37T>C (p.Cys13Arg) SNV Uncertain significance 951898 GRCh37: 1:1149471-1149471
GRCh38: 1:1214091-1214091
40 TNFRSF4 NM_003327.4(TNFRSF4):c.323G>A (p.Arg108His) SNV Uncertain significance 970792 GRCh37: 1:1148419-1148419
GRCh38: 1:1213039-1213039
41 TNFRSF4 NM_003327.4(TNFRSF4):c.485C>T (p.Ser162Leu) SNV Uncertain significance 1035860 GRCh37: 1:1147471-1147471
GRCh38: 1:1212091-1212091
42 TNFRSF4 NM_003327.4(TNFRSF4):c.767G>C (p.Gly256Ala) SNV Uncertain significance 1038803 GRCh37: 1:1147002-1147002
GRCh38: 1:1211622-1211622
43 TNFRSF4 NM_003327.4(TNFRSF4):c.548C>G (p.Pro183Arg) SNV Uncertain significance 653577 rs191704944 GRCh37: 1:1147408-1147408
GRCh38: 1:1212028-1212028
44 TNFRSF4 NM_003327.4(TNFRSF4):c.31G>A (p.Gly11Arg) SNV Uncertain significance 659539 rs376504072 GRCh37: 1:1149477-1149477
GRCh38: 1:1214097-1214097
45 TNFRSF4 NM_003327.4(TNFRSF4):c.35C>T (p.Pro12Leu) SNV Uncertain significance 849970 GRCh37: 1:1149473-1149473
GRCh38: 1:1214093-1214093
46 TNFRSF4 NM_003327.4(TNFRSF4):c.20G>A (p.Arg7Gln) SNV Uncertain significance 859395 GRCh37: 1:1149488-1149488
GRCh38: 1:1214108-1214108
47 TNFRSF4 NM_003327.4(TNFRSF4):c.333G>A (p.Ala111=) SNV Uncertain significance 938534 GRCh37: 1:1148409-1148409
GRCh38: 1:1213029-1213029
48 TNFRSF4 NM_003327.4(TNFRSF4):c.14C>A (p.Ala5Asp) SNV Uncertain significance 942872 GRCh37: 1:1149494-1149494
GRCh38: 1:1214114-1214114
49 TNFRSF4 NM_003327.4(TNFRSF4):c.613C>T (p.Arg205Trp) SNV Uncertain significance 950925 GRCh37: 1:1147343-1147343
GRCh38: 1:1211963-1211963
50 TNFRSF4 NM_003327.4(TNFRSF4):c.332C>A (p.Ala111Glu) SNV Uncertain significance 1051616 GRCh37: 1:1148410-1148410
GRCh38: 1:1213030-1213030

UniProtKB/Swiss-Prot genetic disease variations for Immunodeficiency 16:

72
# Symbol AA change Variation ID SNP ID
1 TNFRSF4 p.Arg65Cys VAR_070942 rs587777075

Expression for Immunodeficiency 16

Search GEO for disease gene expression data for Immunodeficiency 16.

Pathways for Immunodeficiency 16

Pathways related to Immunodeficiency 16 according to GeneCards Suite gene sharing:

(show all 22)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.73 TNFSF9 TNFSF4 TNFSF18 TNFRSF9 TNFRSF4 IL12RB1
2
Show member pathways
13.62 TNFSF9 TNFSF4 TNFSF18 TNFRSF9 TNFRSF4 IL12RB1
3
Show member pathways
13.45 TNFSF9 TNFSF4 TNFSF18 TNFRSF9 TNFRSF4 IL12RB1
4
Show member pathways
13.2 TNFSF9 TNFSF4 TNFSF18 TNFRSF9 TNFRSF4 IL12RB1
5
Show member pathways
13.04 TNFSF9 TNFSF4 TNFSF18 TNFRSF9 TNFRSF4 IL12RB1
6
Show member pathways
12.76 TNFSF9 TNFSF4 TNFSF18 TNFRSF9 TNFRSF4 IL12RB1
7
Show member pathways
12.46 IL12RB1 ICOSLG CD4 CD28
8
Show member pathways
12.43 TNFRSF9 CD8A CD4 CD28
9 12.42 TNFSF4 TNFRSF9 TNFRSF4 CD8A CD28
10
Show member pathways
12.33 TNFSF9 TNFSF4 TNFSF18 TNFRSF9 TNFRSF4 CD70
11 12 ICOSLG CD8A CD4 CD28
12 11.84 CD8A CD4 CD28
13
Show member pathways
11.82 IL12RB1 CD8A CD4
14
Show member pathways
11.79 CD8A CD4 CD28
15
Show member pathways
11.7 IL12RB1 CD4 CD28
16 11.7 IL12RB1 CD8A CD4 CCR6
17
Show member pathways
11.61 IL12RB1 CD4 CD28
18 11.6 TNFRSF4 ICOSLG CD28 CCR6
19 11.57 CD8A CD4 CD28
20
Show member pathways
11.5 TNFRSF9 TNFRSF4 CD8A
21 11.42 TNFSF4 TNFRSF4 CD4 CD28
22
Show member pathways
11.08 TNFSF9 TNFSF4 TNFSF18 TNFRSF9 TNFRSF4 CD70

GO Terms for Immunodeficiency 16

Cellular components related to Immunodeficiency 16 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.21 TNFSF9 TNFSF4 TNFSF18 TNFRSF9 TNFRSF4 IL12RB1
2 integral component of membrane GO:0016021 10.13 TNFSF9 TNFSF4 TNFSF18 TNFRSF9 TNFRSF4 IL12RB1
3 integral component of plasma membrane GO:0005887 9.81 TNFSF4 TNFRSF9 TNFRSF4 CD8A CD70 CD4
4 cell surface GO:0009986 9.8 TNFSF4 TNFSF18 TNFRSF4 CD4 CD28 CD27
5 plasma membrane GO:0005886 9.8 TNFSF9 TNFSF4 TNFSF18 TNFRSF9 TNFRSF4 IL12RB1
6 external side of plasma membrane GO:0009897 9.28 TNFRSF9 TNFRSF4 IL12RB1 ICOSLG CD8A CD4

Biological processes related to Immunodeficiency 16 according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.01 TNFSF9 TNFSF4 TNFSF18 IL12RB1 ICOSLG CD70
2 cell surface receptor signaling pathway GO:0007166 9.8 CD8A CD4 CD28 CD27
3 positive regulation of T cell proliferation GO:0042102 9.56 TNFSF4 CD70 CD4 CD28
4 immune response GO:0006955 9.56 TNFSF9 TNFSF4 TNFRSF4 CD8A CD70 CD4
5 positive regulation of activated T cell proliferation GO:0042104 9.54 TNFSF9 IL12RB1 ICOSLG
6 positive regulation of interleukin-4 production GO:0032753 9.52 TNFSF4 CD28
7 positive regulation of immunoglobulin production GO:0002639 9.51 TNFSF4 TNFRSF4
8 regulation of T cell proliferation GO:0042129 9.5 TNFSF9 TNFSF18 CD28
9 T cell mediated immunity GO:0002456 9.48 CD8A CD70
10 positive regulation of alpha-beta T cell proliferation GO:0046641 9.46 TNFSF4 CD28
11 T cell activation GO:0042110 9.46 ICOSLG CD8A CD4 CD28
12 positive regulation of memory T cell differentiation GO:0043382 9.43 TNFSF4 IL12RB1
13 tumor necrosis factor-mediated signaling pathway GO:0033209 9.17 TNFSF9 TNFSF4 TNFSF18 TNFRSF9 TNFRSF4 CD70

Molecular functions related to Immunodeficiency 16 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.62 TNFSF9 TNFSF4 TNFSF18 CD70
2 coreceptor activity GO:0015026 9.43 CD8A CD4 CD28
3 signaling receptor binding GO:0005102 9.43 TNFSF9 TNFSF4 TNFSF18 ICOSLG CD70 CD4
4 tumor necrosis factor receptor binding GO:0005164 9.33 TNFSF9 TNFSF4 CD70
5 tumor necrosis factor receptor superfamily binding GO:0032813 8.8 TNFSF9 TNFSF4 TNFSF18

Sources for Immunodeficiency 16

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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