Cd3zeta Deficiency disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: CD3001 MIFTS: 18	Cd3zeta Deficiency Categories: Immune diseases
Genes Tissues Related diseases Publications Pathways Expand all tables

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Aliases & Classifications for Cd3zeta Deficiency

MalaCards integrated aliases for Cd3zeta Deficiency:

Name: Cd3zeta Deficiency ¹² ¹⁵

Classifications:

MalaCards categories:
Anatomical: Immune diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:0060007

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Summaries for Cd3zeta Deficiency

Disease Ontology : ¹² A severe combined immunodeficiency that affects the development and function of T cells.

MalaCards based summary : Cd3zeta Deficiency is related to t-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta and immunodeficiency 19. An important gene associated with Cd3zeta Deficiency is CD247 (CD247 Molecule), and among its related pathways/superpathways are Class I MHC mediated antigen processing and presentation and Actin Nucleation by ARP-WASP Complex. Affiliated tissues include t cells, and related phenotype is immune system.

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Related Diseases for Cd3zeta Deficiency

Diseases related to Cd3zeta Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	t-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta	9.9	CD3D CD247
2	immunodeficiency 19	9.7	CD3G CD3D
3	immunodeficiency 17	9.7	CD3G CD3D
4	immunodeficiency 18	9.6	CD3G CD3D CD247
5	severe combined immunodeficiency	9.5	CD3G CD3D CD247
6	omenn syndrome	9.5	CD3G CD3D
7	aplastic anemia	8.9	NCR1 CD3G CD3D CD247

Graphical network of the top 20 diseases related to Cd3zeta Deficiency:

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Symptoms & Phenotypes for Cd3zeta Deficiency

MGI Mouse Phenotypes related to Cd3zeta Deficiency:

⁴⁵

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	immune system	MP:0005387	9.1	CD247 CD3D CD3G GLIS2 NCR1 SLA

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Drugs & Therapeutics for Cd3zeta Deficiency

Search Clinical Trials , NIH Clinical Center for Cd3zeta Deficiency

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Genetic Tests for Cd3zeta Deficiency

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Anatomical Context for Cd3zeta Deficiency

MalaCards organs/tissues related to Cd3zeta Deficiency:

⁴⁰

T Cells

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Publications for Cd3zeta Deficiency

Articles related to Cd3zeta Deficiency:

#	Title	Authors	PMID	Year
1	T-B+NK+ severe combined immunodeficiency caused by complete deficiency of the CD3zeta subunit of the T-cell antigen receptor complex. ⁶¹	Roberts JL...Buckley RH	17170122	2007

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Genes for Cd3zeta Deficiency

Genes related to Cd3zeta Deficiency (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	CD247	CD247 Molecule	Protein Coding	6.81	DISEASES inferred ¹⁵
2	SLA	Src Like Adaptor	Protein Coding	6.16	DISEASES inferred ¹⁵
3	CD3G	CD3g Molecule	Protein Coding	5.44	DISEASES inferred ¹⁵
4	GLIS2	GLIS Family Zinc Finger 2	Protein Coding	5.32	DISEASES inferred ¹⁵
5	PNMA3	PNMA Family Member 3	Protein Coding	5.32	DISEASES inferred ¹⁵
6	NCR1	Natural Cytotoxicity Triggering Receptor 1	Protein Coding	5.29	DISEASES inferred ¹⁵
7	CD3D	CD3d Molecule	Protein Coding	5.24	DISEASES inferred ¹⁵

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Variations for Cd3zeta Deficiency

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Expression for Cd3zeta Deficiency

Search GEO for disease gene expression data for Cd3zeta Deficiency.

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Pathways for Cd3zeta Deficiency

Pathways related to Cd3zeta Deficiency according to GeneCards Suite gene sharing:

(show all 33)

#	Super pathways	Score	Top Affiliating Genes
1	Class I MHC mediated antigen processing and presentation ⁶⁵ Show member pathways Adaptive Immune System ⁶⁵ Antigen processing- Ubiquitination and Proteasome degradation ⁶⁵	13.13	NCR1 CD3G CD3D CD247
2	Actin Nucleation by ARP-WASP Complex ⁶³ Show member pathways Actin Nucleation and Branching ⁶³ CDC42 Pathway ⁶³ RhoA Pathway ⁶³	12.65	CD3G CD3D CD247
3	Human cytomegalovirus infection ³⁶ Show member pathways Human immunodeficiency virus 1 infection ³⁶ Kaposi sarcoma-associated herpesvirus infection ³⁶	12.63	CD3G CD3D CD247
4	TCR Signaling (Qiagen) ⁶³ Show member pathways ITK and TCR Signaling ⁶³ PDGF Pathway ⁶³ PKC-Theta Pathway ⁶³ TCR Signaling ⁶³	12.61	CD3G CD3D CD247
5	CCR5 Pathway in Macrophages ⁶³ Show member pathways Androgen Signaling ⁶³ Chemokine Signaling ⁶³ Chemokine signaling pathway ³⁶	12.58	CD3G CD3D CD247
6	Allograft rejection ¹ ³⁶ Show member pathways Antigen processing and presentation ³⁶ Asthma ³⁶ Autoimmune thyroid disease ³⁶ CTL Mediated Apoptosis ⁶³ Graft-versus-host disease ³⁶ Intestinal immune network for IgA production ³⁶ THC Differentiation Pathway ⁶³ Type I diabetes mellitus ³⁶ Viral myocarditis ³⁶	12.55	CD3G CD3D CD247
7	Development Angiotensin activation of ERK ²² Show member pathways Cell adhesion Integrin inside-out signaling ²² Development ACM2 and ACM4 activation of ERK ²² Development Angiotensin signaling via PYK2 ²² Development EDNRB signaling ²² Development EPO-induced MAPK pathway ²² Development G-Proteins mediated regulation MARK-ERK signaling ²² Signal transduction IP3 signaling ²²	12.55	CD3G CD3D CD247
8	Measles ³⁶ Show member pathways Epstein-Barr virus infection ³⁶ Influenza A ³⁶	12.51	CD3G CD3D CD247
9	Immune response NFAT in immune response ²² Show member pathways Immune response CD28 signaling ²² Immune response ICOS pathway in T-helper cell ²² Immune response T cell receptor signaling pathway ²²	12.36	CD3G CD3D CD247
10	T cell receptor signaling pathway ³⁶ Show member pathways PD-L1 expression and PD-1 checkpoint pathway in cancer ³⁶ T-Cell antigen Receptor (TCR) Signaling Pathway ¹ T-Cell antigen Receptor (TCR) pathway during Staphylococcus aureus infection ¹	12.32	CD3G CD3D CD247
11	Th17 cell differentiation ³⁶ Show member pathways IL-22 Pathway ⁶³ Immune response IL-22 signaling pathway ²² Inflammatory bowel disease (IBD) ³⁶ Th1 and Th2 cell differentiation ³⁶	12.31	CD3G CD3D CD247
12	Antigen processing-Cross presentation ⁶⁵ Show member pathways Cross-presentation of particulate exogenous antigens (phagosomes) ⁶⁵ Endosomal/Vacuolar pathway ⁶⁵ ER-Phagosome pathway ⁶⁵ Immune response Antigen presentation by MHC class I ²²	12.21	CD3G CD3D CD247
13	ICos-ICosL Pathway in T-Helper Cell ⁶³ Show member pathways Calcium Mediated T-Cell Apoptosis ⁶³ CD28 Signaling in T-Helper Cell ⁶³	12.14	CD3G CD3D CD247
14	TCR signaling (REACTOME) ⁶⁵ Show member pathways TCR signaling ⁶⁵	12.1	CD3G CD3D CD247
15	CD28 co-stimulation ⁶⁵ Show member pathways Activation of AKT2 ⁶⁵ CD28 dependent PI3K/Akt signaling ⁶⁵ CD28 dependent Vav1 pathway ⁶⁵ Costimulation by the CD28 family ⁶⁵ VEGFR2 mediated vascular permeability ⁶⁵	11.98	CD3G CD3D CD247
16	Immune response Function of MEF2 in T lymphocytes ²² Show member pathways Development Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis ²²	11.8	CD3G CD3D CD247
17	IL12-mediated signaling events ¹ Show member pathways Immune response IL-12-induced IFN-gamma production ²²	11.75	CD3G CD3D CD247
18	Reelin Pathway (Cajal-Retzius cells) ⁶³	11.73	CD3G CD3D CD247
19	S-1P Stimulated Signaling ⁶³	11.72	CD3G CD3D CD247
20	Translocation of ZAP-70 to Immunological synapse ⁶⁵ Show member pathways Generation of second messenger molecules ⁶⁵ PD-1 signaling ⁶⁵ Phosphorylation of CD3 and TCR zeta chains ⁶⁵	11.72	CD3G CD3D CD247
21	TCR signaling in naive CD4+ T cells ¹ Show member pathways TCR signaling in naive CD8+ T cells ¹	11.7	CD3G CD3D CD247
22	Hematopoietic cell lineage ³⁶	11.64	CD3G CD3D
23	CXCR4-mediated signaling events ¹	11.51	CD3G CD3D CD247
24	Signal transduction_Erk Interactions- Inhibition of Erk ²²	11.48	CD3G CD3D CD247
25	CTLA4 Signaling ⁶³	11.43	CD3G CD3D CD247
26	IL-2 Gene Expression in Activated and Quiescent T-Cells ⁶³ Show member pathways TOB in T-Cell Signaling ⁶³	11.4	CD3G CD3D CD247
27	G-protein signaling N-RAS regulation pathway ²² Show member pathways Immune response Antigen presentation by MHC class II ²²	11.39	CD3G CD3D CD247
28	Role of phospholipids in phagocytosis ⁶⁵ Show member pathways FCGR activation ⁶⁵	11.37	CD3G CD247
29	Downstream signaling in naive CD8+ T cells ¹ Show member pathways Ras signaling in the CD4+ TCR pathway ¹	11.33	CD3G CD3D CD247
30	G-protein signaling_Rap1A regulation pathway ²²	11.2	CD3G CD3D CD247
31	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell ⁶⁵	11.05	NCR1 CD3G CD3D CD247
32	Nur77 Signaling in T-Cell ⁶³	10.88	CD3G CD3D CD247
33	IL12 signaling mediated by STAT4 ¹	10.58	CD3G CD3D CD247

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GO Terms for Cd3zeta Deficiency

Cellular components related to Cd3zeta Deficiency according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	clathrin-coated vesicle membrane	GO:0030665	9.16	CD3G CD3D
2	T cell receptor complex	GO:0042101	9.13	CD3G CD3D CD247
3	alpha-beta T cell receptor complex	GO:0042105	8.8	CD3G CD3D CD247

Biological processes related to Cd3zeta Deficiency according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	adaptive immune response	GO:0002250	9.58	CD3G CD3D CD247
2	cell surface receptor signaling pathway	GO:0007166	9.5	CD3G CD3D CD247
3	positive regulation of signal transduction	GO:0009967	9.37	SLA CD3G
4	T cell receptor signaling pathway	GO:0050852	9.33	CD3G CD3D CD247
5	T cell differentiation	GO:0030217	9.26	CD3G CD3D
6	positive thymic T cell selection	GO:0045059	8.96	CD3G CD3D
7	regulation of immune response	GO:0050776	8.92	NCR1 CD3G CD3D CD247

Molecular functions related to Cd3zeta Deficiency according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	transmembrane signaling receptor activity	GO:0004888	8.8	CD3G CD3D CD247

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