IMD17
MCID: IMM184
MIFTS: 47

Immunodeficiency 17 (IMD17)

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

Aliases & Classifications for Immunodeficiency 17

MalaCards integrated aliases for Immunodeficiency 17:

Name: Immunodeficiency 17 57 12 72 29 6 15 70
Scid-Like Immunodeficiency, T Cell-Partial, B Cell-Positive, Nk Cell-Positive 57 12 72
Immunodeficiency 17, Cd3 Gamma Deficient 57 12 29
Cd3-Gamma Deficiency 57 12 72
Imd17 57 12 72
Cd3gamma Deficiency 12 15
Combined Immunodeficiency Due to Cd3gamma Deficiency 58
Immunodeficiency, Type 17 39

Characteristics:

Orphanet epidemiological data:

58
combined immunodeficiency due to cd3gamma deficiency
Inheritance: Autosomal recessive;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
highly variable severity
some patients may die in infancy, whereas others survive into adulthood and are only mildly affected or essentially clinically asymptomatic
t-cell lymphopenia is more severe early in life


HPO:

31
immunodeficiency 17:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

Disease Ontology 12 DOID:0060018 DOID:0111973
OMIM® 57 615607
OMIM Phenotypic Series 57 PS300755
MeSH 44 D007153
ICD10 via Orphanet 33 D81.2
Orphanet 58 ORPHA169082
UMLS 70 C3810107

Summaries for Immunodeficiency 17

OMIM® : 57 Immunodeficiency-17 is an autosomal recessive primary immunodeficiency characterized by highly variable clinical severity. Some patients have onset of severe recurrent infections in early infancy that may be lethal, whereas others may be only mildly affected or essentially asymptomatic into young adulthood. More severely affected patients may have evidence of autoimmune disease or enteropathy. The immunologic pattern is similar among patients, showing partial T-cell lymphopenia, particularly of cytotoxic CD8 (see 186910)-positive cells, decreased amounts of the CD3 complex, and impaired proliferative responses to T-cell receptor (TCR)-dependent stimuli. B cells, natural killer (NK) cells, and immunoglobulins are usually normal. Although thymic output of functional naive T cells early in life is decreased, polyclonal expansion of functional memory T cells is substantial. The phenotype in some patients is reminiscent of severe combined immunodeficiency (SCID) (summary by Timon et al. (1993) and Recio et al. (2007)). (615607) (Updated 20-May-2021)

MalaCards based summary : Immunodeficiency 17, also known as scid-like immunodeficiency, t cell-partial, b cell-positive, nk cell-positive, is related to lymphopenia and severe combined immunodeficiency. An important gene associated with Immunodeficiency 17 is CD3G (CD3g Molecule), and among its related pathways/superpathways are Class I MHC mediated antigen processing and presentation and Akt Signaling. Affiliated tissues include t cells, nk cells and b cells, and related phenotypes are failure to thrive and abnormal intestine morphology

Disease Ontology : 12 A T cell deficiency characterized by partial T-cell lymphopenia with normal numbers of B and NK cells and highly variable clincal severity that has material basis in homozygous or compound heterozygous mutation in CD3G on chromosome 11q23.3.

UniProtKB/Swiss-Prot : 72 Immunodeficiency 17: An autosomal recessive primary immunodeficiency characterized by highly variable clinical severity. Some patients have onset of severe recurrent infections in early infancy that may be lethal, whereas others may be only mildly affected or essentially asymptomatic into young adulthood. More severely affected patients may have evidence of autoimmune disease or enteropathy. The immunologic pattern is similar among patients, showing partial T-cell lymphopenia, decreased amounts of the CD3 complex, and impaired proliferative responses to T-cell receptor dependent stimuli. The phenotype in some patients is reminiscent of severe combined immunodeficiency.

Related Diseases for Immunodeficiency 17

Diseases related to Immunodeficiency 17 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
# Related Disease Score Top Affiliating Genes
1 lymphopenia 29.6 LCK ITK CD3G
2 severe combined immunodeficiency 29.5 ZAP70 LCK CD3G CD3D
3 common variable immunodeficiency 29.1 ZAP70 LCK CD69
4 cd45 deficiency 10.1 ZAP70 LCK
5 cd3zeta deficiency 10.1 CD3G CD3D
6 co-trimoxazole allergy 10.0 LCK CD69
7 immunodeficiency 18 10.0 CD3G CD3D
8 coronin-1a deficiency 10.0 ITK CD3D
9 retinitis pigmentosa 10 10.0 CD69 AOC3
10 granulomatous disease, chronic, autosomal recessive, 3 10.0 CD3G CD3D
11 vitiligo-associated multiple autoimmune disease susceptibility 6 10.0
12 anemia, autoimmune hemolytic 10.0
13 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative 10.0
14 vitiligo-associated multiple autoimmune disease susceptibility 1 10.0
15 severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive 10.0
16 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 10.0
17 nephrotic syndrome 10.0
18 autoimmune hepatitis 10.0
19 hemolytic anemia 10.0
20 thyroiditis 10.0
21 evans' syndrome 10.0
22 autoimmune enteropathy 10.0
23 severe immune-mediated enteropathy 10.0
24 immunodeficiency 19 9.9 ZAP70 CD3G CD3D
25 agammaglobulinemia, x-linked 9.9 ZAP70 TXK ITK
26 omenn syndrome 9.8 ZAP70 CD3G CD3D
27 t-cell lymphoblastic leukemia/lymphoma 9.8 ZAP70 LCK CD3G
28 thrombocytopenic purpura, autoimmune 9.7
29 immune deficiency disease 9.7
30 bacterial infectious disease 9.7
31 giardiasis 9.7
32 agammaglobulinemia 9.7
33 purpura 9.7
34 splenomegaly 9.7
35 brachydactyly, type c 9.7 CD69 AOC3
36 combined immunodeficiency 9.7 ZAP70 LCK CD3G CD3D

Graphical network of the top 20 diseases related to Immunodeficiency 17:



Diseases related to Immunodeficiency 17

Symptoms & Phenotypes for Immunodeficiency 17

Human phenotypes related to Immunodeficiency 17:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 failure to thrive 31 occasional (7.5%) HP:0001508
2 abnormal intestine morphology 31 occasional (7.5%) HP:0002242
3 autoimmune hemolytic anemia 31 occasional (7.5%) HP:0001890
4 recurrent respiratory infections 31 HP:0002205
5 immunodeficiency 31 HP:0002721
6 recurrent otitis media 31 HP:0000403
7 eczema 31 HP:0000964
8 recurrent gastroenteritis 31 HP:0031123
9 decreased proportion of cd8-positive t cells 31 HP:0005415

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin Nails Hair Skin:
dermatitis

Head And Neck Ears:
otitis, recurrent

Abdomen Gastrointestinal:
enteropathy (in some patients)
gastroenteritis, recurrent

Hematology:
autoimmune hemolytic anemia (in some patients)

Respiratory:
respiratory infections, recurrent

Immunology:
primary immunodeficiency
normal b cells
normal t cells
autoimmune features (in some patients)
recurrent infections, bacterial, viral, and fungal
more
Growth Other:
failure to thrive (in some patients)

Clinical features from OMIM®:

615607 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Immunodeficiency 17 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased viability GR00342-S-1 9.35 ITK ZAP70
2 Increased viability GR00342-S-2 9.35 ITK ZAP70
3 Increased viability GR00342-S-3 9.35 ITK
4 Reduced mammosphere formation GR00396-S 9.02 CD3D CD69 ITK LCK ZAP70

MGI Mouse Phenotypes related to Immunodeficiency 17:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.63 ADM2 CD3G ITK LCK TXK ZAP70
2 hematopoietic system MP:0005397 9.61 ADM2 AOC3 CD3D CD3G CD69 ITK
3 immune system MP:0005387 9.28 ADM2 AOC3 CD3D CD3G CD69 ITK

Drugs & Therapeutics for Immunodeficiency 17

Search Clinical Trials , NIH Clinical Center for Immunodeficiency 17

Genetic Tests for Immunodeficiency 17

Genetic tests related to Immunodeficiency 17:

# Genetic test Affiliating Genes
1 Immunodeficiency 17 29 CD3G
2 Immunodeficiency 17, Cd3 Gamma Deficient 29

Anatomical Context for Immunodeficiency 17

MalaCards organs/tissues related to Immunodeficiency 17:

40
T Cells, Nk Cells, B Cells, Thymus, Pituitary

Publications for Immunodeficiency 17

Articles related to Immunodeficiency 17:

(show all 12)
# Title Authors PMID Year
1
Differential biological role of CD3 chains revealed by human immunodeficiencies. 57 6
17277165 2007
2
Brief report: primary immunodeficiency caused by mutations in the gene encoding the CD3-gamma subunit of the T-lymphocyte receptor. 57 6
1635567 1992
3
Biochemical basis of a novel T lymphocyte receptor immunodeficiency by immunohistochemistry. A possible CD3 gamma abnormality. 6 57
1709425 1991
4
Selective disbalances of peripheral blood T lymphocyte subsets in human CD3 gamma deficiency. 57
8325321 1993
5
Expression and function of a variant T cell receptor complex lacking CD3-gamma. 57
1713248 1991
6
Familial defect in the surface expression of the T-cell receptor-CD3 complex. 57
3262828 1988
7
Familial defect of CD3 (T3) expression by T cells associated with rare gut epithelial cell autoantibodies. 57
2872416 1986
8
Adrenomedullin 2 attenuates LPS-induced inflammation in microglia cells by receptor-mediated cAMP-PKA pathway. 61
33253929 2021
9
Intermedin promotes hepatocellular carcinoma cell proliferation through the classical Wnt signaling pathway. 61
29563999 2018
10
Downregulation of endogenous intermedin augmented myocardial injury in rats with ischemia/reperfusion. 61
23018870 2013
11
Intermedin 17-47 does not function as a full intermedin antagonist within the central nervous system or pituitary. 61
17945397 2007
12
[Common variable immunodeficiency: 17 observations in the adult]. 61
14550517 2003

Variations for Immunodeficiency 17

ClinVar genetic disease variations for Immunodeficiency 17:

6 (show top 50) (show all 58)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CD3G NM_000073.2(CD3G):c.1A>G (p.Met1Val) SNV Pathogenic 12753 rs104894199 GRCh37: 11:118215139-118215139
GRCh38: 11:118344424-118344424
2 CD3G NM_000073.2(CD3G):c.80_96del Deletion Pathogenic 12754 rs483352927 GRCh37: 11:118220456-118220472
GRCh38: 11:118349741-118349757
3 CD3G NM_000073.2(CD3G):c.205A>T (p.Lys69Ter) SNV Pathogenic 100626 rs199676861 GRCh37: 11:118220583-118220583
GRCh38: 11:118349868-118349868
4 CD3G NM_000073.3(CD3G):c.13A>T (p.Lys5Ter) SNV Pathogenic 965164 GRCh37: 11:118215151-118215151
GRCh38: 11:118344436-118344436
5 CD3G NM_000073.2(CD3G):c.213dup (p.Trp72fs) Duplication Pathogenic 580586 rs570768621 GRCh37: 11:118220582-118220583
GRCh38: 11:118349867-118349868
6 CD3G NM_000073.2(CD3G):c.56G>A (p.Gly19Asp) SNV Conflicting interpretations of pathogenicity 541656 rs146393315 GRCh37: 11:118219742-118219742
GRCh38: 11:118349027-118349027
7 CD3G NM_000073.2(CD3G):c.158T>C (p.Ile53Thr) SNV Conflicting interpretations of pathogenicity 302681 rs142915569 GRCh37: 11:118220536-118220536
GRCh38: 11:118349821-118349821
8 CD3G NM_000073.2(CD3G):c.79+10A>G SNV Conflicting interpretations of pathogenicity 474801 rs115851096 GRCh37: 11:118219775-118219775
GRCh38: 11:118349060-118349060
9 CD3G NM_000073.2(CD3G):c.213del (p.Lys71fs) Deletion Conflicting interpretations of pathogenicity 541654 rs570768621 GRCh37: 11:118220583-118220583
GRCh38: 11:118349868-118349868
10 CD3G NM_000073.2(CD3G):c.496C>A (p.Arg166=) SNV Conflicting interpretations of pathogenicity 541655 rs201529449 GRCh37: 11:118223131-118223131
GRCh38: 11:118352416-118352416
11 CD3G NM_000073.2(CD3G):c.511T>C (p.Tyr171His) SNV Conflicting interpretations of pathogenicity 302686 rs148191859 GRCh37: 11:118223146-118223146
GRCh38: 11:118352431-118352431
12 CD3G NM_000073.3(CD3G):c.*617G>T SNV Uncertain significance 877939 GRCh37: 11:118224432-118224432
GRCh38: 11:118353717-118353717
13 CD3G NM_000073.3(CD3G):c.*650C>T SNV Uncertain significance 877940 GRCh37: 11:118224465-118224465
GRCh38: 11:118353750-118353750
14 CD3G NM_000073.3(CD3G):c.243T>C (p.Pro81=) SNV Uncertain significance 878050 GRCh37: 11:118220621-118220621
GRCh38: 11:118349906-118349906
15 CD3G NM_000073.3(CD3G):c.467A>G (p.Asn156Ser) SNV Uncertain significance 879514 GRCh37: 11:118222370-118222370
GRCh38: 11:118351655-118351655
16 CD3G NM_000073.3(CD3G):c.*141G>A SNV Uncertain significance 879515 GRCh37: 11:118223956-118223956
GRCh38: 11:118353241-118353241
17 CD3G NM_000073.3(CD3G):c.*216C>A SNV Uncertain significance 879516 GRCh37: 11:118224031-118224031
GRCh38: 11:118353316-118353316
18 CD3G NM_000073.3(CD3G):c.*253G>A SNV Uncertain significance 879878 GRCh37: 11:118224068-118224068
GRCh38: 11:118353353-118353353
19 CD3G NM_000073.3(CD3G):c.*363C>T SNV Uncertain significance 879879 GRCh37: 11:118224178-118224178
GRCh38: 11:118353463-118353463
20 CD3G NM_000073.3(CD3G):c.*426T>G SNV Uncertain significance 879880 GRCh37: 11:118224241-118224241
GRCh38: 11:118353526-118353526
21 CD3G NM_000073.3(CD3G):c.*551C>T SNV Uncertain significance 879881 GRCh37: 11:118224366-118224366
GRCh38: 11:118353651-118353651
22 CD3G NM_000073.2(CD3G):c.40A>G (p.Ile14Val) SNV Uncertain significance 643291 rs377262966 GRCh37: 11:118215178-118215178
GRCh38: 11:118344463-118344463
23 CD3G NM_000073.2(CD3G):c.326A>G (p.Glu109Gly) SNV Uncertain significance 644192 rs747479547 GRCh37: 11:118221285-118221285
GRCh38: 11:118350570-118350570
24 CD3G NM_000073.2(CD3G):c.128T>C (p.Leu43Pro) SNV Uncertain significance 648713 rs1415147588 GRCh37: 11:118220506-118220506
GRCh38: 11:118349791-118349791
25 CD3G NM_000073.2(CD3G):c.389_391delinsTCT (p.Ala130_Val131delinsValPhe) Indel Uncertain significance 661539 rs1591284990 GRCh37: 11:118221348-118221350
GRCh38: 11:118350633-118350635
26 CD3G NM_000073.2(CD3G):c.187G>A (p.Gly63Ser) SNV Uncertain significance 572829 rs755334490 GRCh37: 11:118220565-118220565
GRCh38: 11:118349850-118349850
27 CD3G NM_000073.2(CD3G):c.170A>C (p.Lys57Thr) SNV Uncertain significance 541653 rs1555121379 GRCh37: 11:118220548-118220548
GRCh38: 11:118349833-118349833
28 CD3G NM_000073.2(CD3G):c.*112C>T SNV Uncertain significance 302687 rs201272612 GRCh37: 11:118223927-118223927
GRCh38: 11:118353212-118353212
29 CD3G NM_000073.2(CD3G):c.-17G>T SNV Uncertain significance 302679 rs145293635 GRCh37: 11:118215122-118215122
GRCh38: 11:118344407-118344407
30 CD3G NM_000073.2(CD3G):c.*450T>G SNV Uncertain significance 302691 rs200498090 GRCh37: 11:118224265-118224265
GRCh38: 11:118353550-118353550
31 CD3G NM_000073.2(CD3G):c.*500G>A SNV Uncertain significance 302694 rs886047743 GRCh37: 11:118224315-118224315
GRCh38: 11:118353600-118353600
32 CD3G NM_000073.2(CD3G):c.308-4A>G SNV Uncertain significance 302683 rs201296802 GRCh37: 11:118221263-118221263
GRCh38: 11:118350548-118350548
33 CD3G NM_000073.2(CD3G):c.*308G>A SNV Uncertain significance 302689 rs73018291 GRCh37: 11:118224123-118224123
GRCh38: 11:118353408-118353408
34 CD3G NM_000073.3(CD3G):c.437G>C (p.Arg146Thr) SNV Uncertain significance 1010005 GRCh37: 11:118221396-118221396
GRCh38: 11:118350681-118350681
35 CD3G NM_000073.2(CD3G):c.33C>G (p.Ile11Met) SNV Uncertain significance 580921 rs143990986 GRCh37: 11:118215171-118215171
GRCh38: 11:118344456-118344456
36 CD3G NM_000073.2(CD3G):c.273G>C (p.Gln91His) SNV Uncertain significance 640654 rs141052321 GRCh37: 11:118220651-118220651
GRCh38: 11:118349936-118349936
37 CD3G NM_000073.3(CD3G):c.37G>A (p.Ala13Thr) SNV Uncertain significance 845191 GRCh37: 11:118215175-118215175
GRCh38: 11:118344460-118344460
38 CD3G NM_000073.3(CD3G):c.353T>C (p.Phe118Ser) SNV Uncertain significance 849416 GRCh37: 11:118221312-118221312
GRCh38: 11:118350597-118350597
39 CD3G NM_000073.3(CD3G):c.308-13_308-6del Deletion Uncertain significance 949724 GRCh37: 11:118221253-118221260
GRCh38: 11:118350538-118350545
40 CD3G NM_000073.2(CD3G):c.32T>C (p.Ile11Thr) SNV Uncertain significance 302680 rs201006956 GRCh37: 11:118215170-118215170
GRCh38: 11:118344455-118344455
41 CD3G NM_000073.3(CD3G):c.79+3A>G SNV Uncertain significance 1020660 GRCh37: 11:118219768-118219768
GRCh38: 11:118349053-118349053
42 CD3G NM_000073.3(CD3G):c.79+4G>A SNV Uncertain significance 863273 GRCh37: 11:118219769-118219769
GRCh38: 11:118349054-118349054
43 CD3G NM_000073.2(CD3G):c.122C>T (p.Ser41Leu) SNV Uncertain significance 661867 rs201752677 GRCh37: 11:118220500-118220500
GRCh38: 11:118349785-118349785
44 CD3G NM_000073.2(CD3G):c.36G>A (p.Leu12=) SNV Uncertain significance 649896 rs181713283 GRCh37: 11:118215174-118215174
GRCh38: 11:118344459-118344459
45 overlap with 33 genes NC_000011.9:g.(?_117856768)_(118972385_?)dup Duplication Uncertain significance 1007237 GRCh37: 11:117856768-118972385
GRCh38:
46 CD3G NM_000073.3(CD3G):c.152A>G (p.Lys51Arg) SNV Uncertain significance 1053355 GRCh37: 11:118220530-118220530
GRCh38: 11:118349815-118349815
47 CD3G NM_000073.3(CD3G):c.521T>C (p.Leu174Pro) SNV Uncertain significance 1056865 GRCh37: 11:118223156-118223156
GRCh38: 11:118352441-118352441
48 CD3G NM_000073.3(CD3G):c.308-9T>G SNV Uncertain significance 1059596 GRCh37: 11:118221258-118221258
GRCh38: 11:118350543-118350543
49 CD3G NM_000073.3(CD3G):c.38C>T (p.Ala13Val) SNV Uncertain significance 1062542 GRCh37: 11:118215176-118215176
GRCh38: 11:118344461-118344461
50 CD3G NM_000073.3(CD3G):c.223G>A (p.Gly75Arg) SNV Uncertain significance 937048 GRCh37: 11:118220601-118220601
GRCh38: 11:118349886-118349886

Expression for Immunodeficiency 17

Search GEO for disease gene expression data for Immunodeficiency 17.

Pathways for Immunodeficiency 17

Pathways related to Immunodeficiency 17 according to GeneCards Suite gene sharing:

(show all 33)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.22 ZAP70 LCK ITK CD3G CD3D
2
Show member pathways
13.19 ZAP70 TXK LCK ITK CD3G CD3D
3
Show member pathways
12.87 ZAP70 LCK ITK CD3G CD3D
4
Show member pathways
12.5 ZAP70 LCK ITK CD3G CD3D
5
Show member pathways
12.42 ZAP70 LCK CD3G CD3D
6
Show member pathways
12.41 ZAP70 LCK ITK CD3G CD3D
7
Show member pathways
12.37 ZAP70 LCK ITK CD3G CD3D
8 12.35 ZAP70 LCK ITK
9
Show member pathways
12.28 ZAP70 LCK CD3G CD3D
10 12.14 LCK CD3G CD3D
11
Show member pathways
12.03 LCK CD3G CD3D
12
Show member pathways
12 ZAP70 LCK ITK CD3G CD3D
13 11.94 ZAP70 LCK ITK
14
Show member pathways
11.85 ZAP70 LCK CD3G CD3D
15
Show member pathways
11.82 LCK CD3G CD3D
16 11.79 ZAP70 CD3G CD3D
17 11.78 ZAP70 LCK CD3G CD3D
18 11.61 LCK CD3G CD3D
19
Show member pathways
11.6 CD3G CD3D
20
Show member pathways
11.59 ZAP70 LCK ITK CD3G CD3D
21 11.54 ZAP70 LCK CD3G CD3D
22
Show member pathways
11.48 ZAP70 TXK LCK ITK CD3G CD3D
23 11.47 ZAP70 LCK CD3G CD3D
24
Show member pathways
11.44 CD3G CD3D
25 11.41 ZAP70 CD3G CD3D
26 11.39 ZAP70 LCK
27
Show member pathways
11.39 ZAP70 LCK ITK CD3G CD3D
28 11.28 ZAP70 LCK CD3D
29 11.25 LCK ITK
30 11.18 CD3G CD3D
31 11.15 ZAP70 LCK
32 11.14 ZAP70 LCK ITK
33 11.06 CD3G CD3D

GO Terms for Immunodeficiency 17

Cellular components related to Immunodeficiency 17 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 clathrin-coated vesicle membrane GO:0030665 9.26 CD3G CD3D
2 immunological synapse GO:0001772 9.16 ZAP70 LCK
3 T cell receptor complex GO:0042101 9.13 ZAP70 CD3G CD3D
4 alpha-beta T cell receptor complex GO:0042105 8.62 CD3G CD3D

Biological processes related to Immunodeficiency 17 according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 9.8 ZAP70 TXK LCK ITK
2 immune system process GO:0002376 9.8 ZAP70 TXK ITK CD3G CD3D
3 protein phosphorylation GO:0006468 9.77 ZAP70 TXK LCK ITK ADM2
4 adaptive immune response GO:0002250 9.65 ZAP70 TXK ITK CD3G CD3D
5 peptidyl-tyrosine phosphorylation GO:0018108 9.61 ZAP70 TXK LCK
6 T cell differentiation GO:0030217 9.51 ZAP70 LCK
7 T cell activation GO:0042110 9.5 ZAP70 ITK CD3G
8 activation of phospholipase C activity GO:0007202 9.48 TXK ITK
9 cytokine production GO:0001816 9.46 TXK ITK
10 positive thymic T cell selection GO:0045059 9.33 ZAP70 CD3G CD3D
11 peptidyl-tyrosine autophosphorylation GO:0038083 9.26 ZAP70 TXK LCK ITK
12 T cell receptor signaling pathway GO:0050852 9.1 ZAP70 TXK LCK ITK CD3G CD3D

Molecular functions related to Immunodeficiency 17 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.83 LCK CD69 CD3G CD3D AOC3
2 kinase activity GO:0016301 9.62 ZAP70 TXK LCK ITK
3 protein kinase activity GO:0004672 9.56 ZAP70 TXK LCK ITK
4 transmembrane signaling receptor activity GO:0004888 9.54 CD69 CD3G CD3D
5 phosphotyrosine residue binding GO:0001784 9.4 ZAP70 LCK
6 protein tyrosine kinase activity GO:0004713 9.26 ZAP70 TXK LCK ITK
7 T cell receptor binding GO:0042608 9.16 LCK CD3G
8 non-membrane spanning protein tyrosine kinase activity GO:0004715 8.92 ZAP70 TXK LCK ITK

Sources for Immunodeficiency 17

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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