MCID: TBS005
MIFTS: 19

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

Categories: Blood diseases, Rare diseases, Immune 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 59
T-B+ Scid Due to Cd3delta/cd3epsilon/cd3zeta 59

Classifications:

Orphanet: 59  
Rare immunological diseases


External Ids:

Orphanet 59 ORPHA169160
ICD10 via Orphanet 34 D81.2

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 immunodeficiency 18 and severe combined immunodeficiency. An important gene associated with T-B+ Severe Combined Immunodeficiency Due to Cd3delta/cd3epsilon/cd3zeta is CD3E (CD3e 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 immunodeficiency 18 9.1 CD3D CD3E
2 severe combined immunodeficiency 8.9 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:

41
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 39)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.03 CD247 CD3D CD3E
2
Show member pathways
12.99 CD247 CD3D CD3E
3
Show member pathways
12.92 CD247 CD3D CD3E
4
Show member pathways
12.73 CD247 CD3D CD3E
5
Show member pathways
12.68 CD247 CD3D CD3E
6
Show member pathways
12.64 CD247 CD3D CD3E
7
Show member pathways
12.6 CD247 CD3D CD3E
8
Show member pathways
12.59 CD247 CD3D CD3E
9
Show member pathways
12.57 CD247 CD3D CD3E
10
Show member pathways
12.56 CD247 CD3D CD3E
11
Show member pathways
12.34 CD247 CD3D CD3E
12
Show member pathways
12.28 CD247 CD3D CD3E
13
Show member pathways
12.23 CD247 CD3D CD3E
14
Show member pathways
12.2 CD247 CD3D CD3E
15
Show member pathways
12.18 CD247 CD3D CD3E
16
Show member pathways
12.14 CD247 CD3D CD3E
17
Show member pathways
12.1 CD247 CD3D CD3E
18 12.09 CD3D CD3E
19
Show member pathways
12 CD3D CD3E
20
Show member pathways
11.97 CD247 CD3D CD3E
21
Show member pathways
11.92 CD247 CD3D CD3E
22
Show member pathways
11.89 CD247 CD3D CD3E
23 11.83 CD247 CD3D CD3E
24
Show member pathways
11.72 CD247 CD3D CD3E
25 11.7 CD247 CD3D CD3E
26
Show member pathways
11.69 CD247 CD3D CD3E
27
Show member pathways
11.67 CD247 CD3D CD3E
28 11.65 CD3D CD3E
29 11.49 CD247 CD3D CD3E
30 11.45 CD247 CD3D CD3E
31 11.4 CD247 CD3D CD3E
32 11.39 CD247 CD3D CD3E
33
Show member pathways
11.28 CD247 CD3D CD3E
34 11.2 CD3D CD3E
35 11.13 CD247 CD3D CD3E
36 11.04 CD247 CD3E
37 10.88 CD247 CD3D CD3E
38 10.58 CD247 CD3D CD3E
39
Show member pathways
10.49 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 T cell receptor complex GO:0042101 9.13 CD247 CD3D CD3E
2 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 9.54 CD247 CD3D CD3E
2 cell surface receptor signaling pathway GO:0007166 9.5 CD247 CD3D CD3E
3 adaptive immune response GO:0002250 9.43 CD247 CD3D CD3E
4 protein homooligomerization GO:0051260 9.4 CD3D CD3E
5 regulation of immune response GO:0050776 9.33 CD247 CD3D CD3E
6 T cell receptor signaling pathway GO:0050852 9.13 CD247 CD3D CD3E
7 T cell costimulation GO:0031295 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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