MCID: TBS005
MIFTS: 19

T-B+ Severe Combined Immunodeficiency Due to Cd3delta/cd3epsilon/cd3zeta

Categories: Blood diseases, Immune diseases, Rare diseases

Aliases & Classifications for T-B+ Severe Combined Immunodeficiency Due to...

MalaCards integrated aliases for T-B+ Severe Combined Immunodeficiency Due to Cd3delta/cd3epsilon/cd3zeta:

Name: T-B+ Severe Combined Immunodeficiency Due to Cd3delta/cd3epsilon/cd3zeta 60
T-B+ Scid Due to Cd3delta/cd3epsilon/cd3zeta 60

Classifications:

Orphanet: 60  
Rare immunological diseases


External Ids:

ICD10 via Orphanet 35 D81.2
Orphanet 60 ORPHA169160

Summaries for T-B+ Severe Combined Immunodeficiency Due to...

MalaCards based summary : T-B+ Severe Combined Immunodeficiency Due to Cd3delta/cd3epsilon/cd3zeta, also known as t-b+ scid due to cd3delta/cd3epsilon/cd3zeta, is related to severe combined immunodeficiency and immunodeficiency 18. An important gene associated with T-B+ Severe Combined Immunodeficiency Due to Cd3delta/cd3epsilon/cd3zeta is CD247 (CD247 Molecule), and among its related pathways/superpathways are Class I MHC mediated antigen processing and presentation and Akt Signaling. Affiliated tissues include b cells.

Related Diseases for T-B+ Severe Combined Immunodeficiency Due to...

Diseases related to T-B+ Severe Combined Immunodeficiency Due to Cd3delta/cd3epsilon/cd3zeta via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 severe combined immunodeficiency 9.6 CD3D CD3E
2 immunodeficiency 18 9.5 CD3D CD3E

Symptoms & Phenotypes for T-B+ Severe Combined Immunodeficiency Due to...

Drugs & Therapeutics for T-B+ Severe Combined Immunodeficiency Due to...

Search Clinical Trials , NIH Clinical Center for T-B+ Severe Combined Immunodeficiency Due to Cd3delta/cd3epsilon/cd3zeta

Genetic Tests for T-B+ Severe Combined Immunodeficiency Due to...

Anatomical Context for T-B+ Severe Combined Immunodeficiency Due to...

MalaCards organs/tissues related to T-B+ Severe Combined Immunodeficiency Due to Cd3delta/cd3epsilon/cd3zeta:

42
B Cells

Publications for T-B+ Severe Combined Immunodeficiency Due to...

Variations for T-B+ Severe Combined Immunodeficiency Due to...

Expression for T-B+ Severe Combined Immunodeficiency Due to...

Search GEO for disease gene expression data for T-B+ Severe Combined Immunodeficiency Due to Cd3delta/cd3epsilon/cd3zeta.

Pathways for T-B+ Severe Combined Immunodeficiency Due to...

Pathways related to T-B+ Severe Combined Immunodeficiency Due to Cd3delta/cd3epsilon/cd3zeta according to GeneCards Suite gene sharing:

(show all 42)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.04 CD247 CD3D CD3E
2
Show member pathways
13 CD247 CD3D CD3E
3
Show member pathways
12.93 CD247 CD3D CD3E
4
Show member pathways
12.86 CD247 CD3D CD3E
5
Show member pathways
12.73 CD247 CD3D CD3E
6
Show member pathways
12.66 CD247 CD3D CD3E
7
Show member pathways
12.63 CD247 CD3D CD3E
8
Show member pathways
12.6 CD247 CD3D CD3E
9
Show member pathways
12.6 CD247 CD3D CD3E
10
Show member pathways
12.57 CD247 CD3D CD3E
11
Show member pathways
12.56 CD247 CD3D CD3E
12
Show member pathways
12.36 CD247 CD3D CD3E
13
Show member pathways
12.33 CD247 CD3D CD3E
14
Show member pathways
12.23 CD247 CD3D CD3E
15
Show member pathways
12.19 CD247 CD3D CD3E
16
Show member pathways
12.15 CD247 CD3D CD3E
17
Show member pathways
12.12 CD247 CD3D CD3E
18 12.03 CD3D CD3E
19
Show member pathways
12.01 CD3D CD3E
20
Show member pathways
11.97 CD247 CD3D CD3E
21
Show member pathways
11.89 CD247 CD3D CD3E
22 11.82 CD247 CD3D CD3E
23
Show member pathways
11.72 CD247 CD3D CD3E
24 11.71 CD247 CD3D CD3E
25
Show member pathways
11.71 CD247 CD3D CD3E
26 11.7 CD247 CD3D CD3E
27
Show member pathways
11.67 CD247 CD3D CD3E
28 11.66 CD3D CD3E
29
Show member pathways
11.64 CD247 CD3D CD3E
30 11.46 CD247 CD3D CD3E
31 11.41 CD247 CD3D CD3E
32 11.39 CD247 CD3D CD3E
33 11.38 CD247 CD3E
34
Show member pathways
11.36 CD247 CD3D CD3E
35 11.35 CD247 CD3D CD3E
36 11.35 CD247 CD3D CD3E
37
Show member pathways
11.22 CD247 CD3D CD3E
38 11.2 CD3D CD3E
39 11.04 CD247 CD3E
40 11.03 CD247 CD3D CD3E
41 10.68 CD247 CD3D CD3E
42 10.25 CD247 CD3D CD3E

GO Terms for T-B+ Severe Combined Immunodeficiency Due to...

Cellular components related to T-B+ Severe Combined Immunodeficiency Due to Cd3delta/cd3epsilon/cd3zeta according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 external side of plasma membrane GO:0009897 9.16 CD3D CD3E
2 T cell receptor complex GO:0042101 9.13 CD247 CD3D CD3E
3 alpha-beta T cell receptor complex GO:0042105 8.8 CD247 CD3D CD3E

Biological processes related to T-B+ Severe Combined Immunodeficiency Due to Cd3delta/cd3epsilon/cd3zeta according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 immune system process GO:0002376 9.58 CD247 CD3D CD3E
2 adaptive immune response GO:0002250 9.5 CD247 CD3D CD3E
3 protein homooligomerization GO:0051260 9.43 CD3D CD3E
4 cell surface receptor signaling pathway GO:0007166 9.43 CD247 CD3D CD3E
5 T cell differentiation GO:0030217 9.37 CD3D CD3E
6 regulation of immune response GO:0050776 9.33 CD247 CD3D CD3E
7 positive thymic T cell selection GO:0045059 8.96 CD3D CD3E
8 T cell receptor signaling pathway GO:0050852 8.8 CD247 CD3D CD3E

Molecular functions related to T-B+ Severe Combined Immunodeficiency Due to Cd3delta/cd3epsilon/cd3zeta according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein homodimerization activity GO:0042803 9.13 CD247 CD3D CD3E
2 transmembrane signaling receptor activity GO:0004888 8.8 CD247 CD3D CD3E

Sources for T-B+ Severe Combined Immunodeficiency Due to...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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