MCID: TBS005
MIFTS: 24

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 58
T-B+ Scid Due to Cd3delta/cd3epsilon/cd3zeta 58

Classifications:

Orphanet: 58  
Rare immunological diseases


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 cd3zeta deficiency and severe combined immunodeficiency. 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 GPCR Pathway and PEDF Induced Signaling. Affiliated tissues include t cells, and related phenotypes are fever and lymphopenia

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 cd3zeta deficiency 9.5 CD3D CD247
2 severe combined immunodeficiency 9.4 CD3E CD3D CD247
3 combined immunodeficiency 9.3 CD3E CD3D CD247
4 immunodeficiency 18 9.3 CD3E CD3D CD247
5 aplastic anemia 9.1 CD3E CD3D CD247

Graphical network of the top 20 diseases related to T-B+ Severe Combined Immunodeficiency Due to Cd3delta/cd3epsilon/cd3zeta:



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

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

Human phenotypes related to T-B+ Severe Combined Immunodeficiency Due to Cd3delta/cd3epsilon/cd3zeta:

58 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fever 58 31 frequent (33%) Frequent (79-30%) HP:0001945
2 lymphopenia 58 31 frequent (33%) Frequent (79-30%) HP:0001888
3 decreased circulating igg level 58 31 frequent (33%) Frequent (79-30%) HP:0004315
4 decreased lymphocyte proliferation in response to mitogen 58 31 frequent (33%) Frequent (79-30%) HP:0031381
5 decreased proportion of cd3-positive t cells 58 31 frequent (33%) Frequent (79-30%) HP:0045080
6 decreased circulating total iga 58 31 frequent (33%) Frequent (79-30%) HP:0003460
7 failure to thrive secondary to recurrent infections 58 31 frequent (33%) Frequent (79-30%) HP:0008866
8 hepatitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0012115
9 anorexia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002039
10 otitis media 58 31 occasional (7.5%) Occasional (29-5%) HP:0000388
11 recurrent pneumonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0006532
12 erythroderma 58 31 occasional (7.5%) Occasional (29-5%) HP:0001019
13 eosinophilia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001880
14 hepatosplenomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001433
15 recurrent candida infections 58 31 occasional (7.5%) Occasional (29-5%) HP:0005401
16 recurrent herpes 58 31 occasional (7.5%) Occasional (29-5%) HP:0005353
17 protracted diarrhea 58 31 occasional (7.5%) Occasional (29-5%) HP:0004385
18 recurrent abscess formation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002722
19 chronic oral candidiasis 58 31 occasional (7.5%) Occasional (29-5%) HP:0009098
20 increased circulating antibody level 31 occasional (7.5%) HP:0010702
21 recurrent infections 58 Very frequent (99-80%)
22 increased antibody level in blood 58 Occasional (29-5%)
23 pneumonia 58 Occasional (29-5%)
24 diarrhea 58 Occasional (29-5%)

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:

40
T 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 43)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.24 CD3E CD3D CD247
2
Show member pathways
13.21 CD3E CD3D CD247
3
Show member pathways
13.03 CD3E CD3D CD247
4
Show member pathways
13 CD3E CD3D CD247
5
Show member pathways
12.93 CD3E CD3D CD247
6
Show member pathways
12.84 CD3E CD3D CD247
7
Show member pathways
12.73 CD3E CD3D CD247
8
Show member pathways
12.66 CD3E CD3D CD247
9
Show member pathways
12.63 CD3E CD3D CD247
10
Show member pathways
12.59 CD3E CD3D CD247
11
Show member pathways
12.56 CD3E CD3D CD247
12
Show member pathways
12.55 CD3E CD3D CD247
13
Show member pathways
12.53 CD3E CD3D CD247
14
Show member pathways
12.4 CD3E CD3D CD247
15
Show member pathways
12.36 CD3E CD3D CD247
16
Show member pathways
12.32 CD3E CD3D CD247
17
Show member pathways
12.31 CD3E CD3D CD247
18
Show member pathways
12.21 CD3E CD3D CD247
19
Show member pathways
12.14 CD3E CD3D CD247
20
Show member pathways
12.11 CD3E CD3D
21
Show member pathways
12.1 CD3E CD3D CD247
22 12.02 CD3E CD3D
23
Show member pathways
11.98 CD3E CD3D CD247
24 11.84 CD3E CD3D CD247
25
Show member pathways
11.78 CD3E CD3D CD247
26
Show member pathways
11.74 CD3E CD3D CD247
27 11.73 CD3E CD3D CD247
28 11.72 CD3E CD3D CD247
29
Show member pathways
11.71 CD3E CD3D CD247
30
Show member pathways
11.69 CD3E CD3D CD247
31 11.66 CD3E CD3D
32 11.49 CD3E CD3D CD247
33 11.45 CD3E CD3D CD247
34 11.4 CD3E CD3D CD247
35
Show member pathways
11.39 CD3E CD3D CD247
36 11.37 CD3E CD247
37
Show member pathways
11.29 CD3E CD3D CD247
38
Show member pathways
11.28 CD3E CD3D CD247
39 11.21 CD3E CD3D
40 11.13 CD3E CD3D CD247
41 11.03 CD3E CD247
42 10.68 CD3E CD3D CD247
43 10.25 CD3E CD3D CD247

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 CD3E CD3D CD247
2 alpha-beta T cell receptor complex GO:0042105 8.8 CD3E CD3D CD247

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 CD3E CD3D CD247
2 adaptive immune response GO:0002250 9.5 CD3E CD3D CD247
3 cell surface receptor signaling pathway GO:0007166 9.43 CD3E CD3D CD247
4 regulation of immune response GO:0050776 9.33 CD3E CD3D CD247
5 positive thymic T cell selection GO:0045059 8.96 CD3E CD3D
6 T cell receptor signaling pathway GO:0050852 8.8 CD3E CD3D CD247

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 heterodimerization activity GO:0046982 9.16 CD3E CD3D
2 identical protein binding GO:0042802 9.13 CD3E CD3D CD247
3 transmembrane signaling receptor activity GO:0004888 8.8 CD3E CD3D CD247

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

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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