Immunodeficiency 7, Tcr-Alpha/beta Deficient disease: Malacards - Research Articles, Symptoms, Drugs, Genes, Clinical Trials

Aliases & Classifications for Immunodeficiency 7, Tcr-Alpha/beta Deficient

Sources:
⁴⁹OMIM, ⁶⁷UniProtKB/Swiss-Prot, ²⁴GTR, ⁶⁵UMLS, ³⁴MedGen, ³⁶MeSH, ⁶¹The Human Phenotype Ontology
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Aliases & Descriptions for Immunodeficiency 7, Tcr-Alpha/beta Deficient:

Name: Immunodeficiency 7, Tcr-Alpha/beta Deficient ⁴⁹ ⁶⁷

T-Cell Receptor-Alpha/beta Deficiency ⁶⁷ ²⁴ ⁶⁵

Tcr-Alpha/beta Deficiency ⁶⁷

Immunodeficiency 7 ⁶⁷

Imd7 ⁶⁷

Characteristics:

HPO:

⁶¹

immunodeficiency 7, tcr-alpha/beta deficient:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset

Classifications:

MalaCards categories:
Global: Genetic diseases (common)
Anatomical: Immune diseases

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External Ids:

OMIM⁴⁹ 615387

MedGen³⁴ C3809332, CN179773

MeSH³⁶ D007153

UMLS⁶⁵ C3809332

Summaries for Immunodeficiency 7, Tcr-Alpha/beta Deficient

Sources:
⁶⁷UniProtKB/Swiss-Prot, ⁴⁹OMIM, ³³MalaCards
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UniProtKB/Swiss-Prot:⁶⁷ Immunodeficiency 7: A primary immunodeficiency disorder manifesting with recurrent respiratory infections, candidiasis, diarrhea, and failure to thrive. Patients show a clear predisposition to herpes viral infections, and features of immune dysregulation, including hypereosinophilia, vitiligo, and alopecia areata. Other features include lymphadenopathy and hepatosplenomegaly. CD3+ T-cells express TCR-gamma/delta, but little or no TCR-alpha/beta.

MalaCards based summary: Immunodeficiency 7, Tcr-Alpha/beta Deficient, also known as t-cell receptor-alpha/beta deficiency, is related to cr2-related common variable immune deficiency and ichthyosis, congenital, autosomal recessive 1, and has symptoms including failure to thrive, lymphadenopathy and recurrent infections. An important gene associated with Immunodeficiency 7, Tcr-Alpha/beta Deficient is TRAC (T-Cell Receptor Alpha Constant), and among its related pathways are CD28 co-stimulation and Immune response Antigen presentation by MHC class II. Affiliated tissues include t cells and liver.

Description from OMIM:⁴⁹ 615387

Related Diseases for Immunodeficiency 7, Tcr-Alpha/beta Deficient

Sources:
²⁰GeneCards, ¹⁹GeneAnalytics
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Diseases related to Immunodeficiency 7, Tcr-Alpha/beta Deficient via text searches within MalaCards or GeneCards Suite gene sharing:

id	Related Disease	Score	Top Affiliating Genes
1	cr2-related common variable immune deficiency	11.0
2	ichthyosis, congenital, autosomal recessive 1	9.5	TRA, TRAC

Symptoms for Immunodeficiency 7, Tcr-Alpha/beta Deficient

Sources:
⁴⁹OMIM, ⁶¹The Human Phenotype Ontology
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Symptoms by clinical synopsis from OMIM:

615387

Clinical features from OMIM:

615387

HPO human phenotypes related to Immunodeficiency 7, Tcr-Alpha/beta Deficient:

id	Description	HPO Source Accession
1	failure to thrive	HP:0001508
2	lymphadenopathy	HP:0002716
3	recurrent infections	HP:0002719
4	autoimmunity	HP:0002960

Drugs & Therapeutics for Immunodeficiency 7, Tcr-Alpha/beta Deficient

Sources:
⁴⁴NIH Clinical Center, ⁴ClinicalTrials, ¹³DrugBank, ²⁶HMDB, ⁹DGIdb, ⁵³PharmGKB, ³⁰IUPHAR, ⁴⁷Novoseek, ¹BitterDB
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Drugs for Immunodeficiency 7, Tcr-Alpha/beta Deficient (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

id		Name	Status	Phase	Clinical Trials	Cas Number	PubChem Id
1		Liver Extracts		Phase 1, Phase 2	3572

Interventional clinical trials:

id	Name	Status	NCT ID	Phase
1	TCR Alpha/Beta Depletion for HSCT From Haploidentical and Unrelated Donors in the Treatment of PID	Recruiting	NCT02327351	Phase 2, Phase 3
2	Safety Study of Gene Modified Donor T-cells Following TCR Alpha Beta Depleted Stem Cell Transplant	Recruiting	NCT02065869	Phase 1, Phase 2

Search NIH Clinical Center for Immunodeficiency 7, Tcr-Alpha/beta Deficient

Genetic Tests for Immunodeficiency 7, Tcr-Alpha/beta Deficient

Anatomical Context for Immunodeficiency 7, Tcr-Alpha/beta Deficient

Sources:
³³MalaCards
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MalaCards organs/tissues related to Immunodeficiency 7, Tcr-Alpha/beta Deficient:

³³

T cells, Liver

Animal Models for Immunodeficiency 7, Tcr-Alpha/beta Deficient or affiliated genes

Publications for Immunodeficiency 7, Tcr-Alpha/beta Deficient

Genes related to Immunodeficiency 7, Tcr-Alpha/beta Deficient

Sources:
²⁰GeneCards, ⁴⁹OMIM
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Genes related to Immunodeficiency 7, Tcr-Alpha/beta Deficient (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

id	Symbol	Description	Score	Implication	PubmedIds
1	TRAC	T-Cell Receptor Alpha Constant	500.00	Molecular basis known ⁴⁹
2	TRA	T-Cell Receptor Alpha Locus	500.00	Molecular basis known ⁴⁹

Variations for Immunodeficiency 7, Tcr-Alpha/beta Deficient

Sources:
⁵Clinvar
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Clinvar genetic disease variations for Immunodeficiency 7, Tcr-Alpha/beta Deficient:

⁵

id	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1		NG_001332.2: g.1074699G> A	single nucleotide variant	Pathogenic	rs397514259	GRCh37	Chr 14, 23019608: 23019608

Expression for genes affiliated with Immunodeficiency 7, Tcr-Alpha/beta Deficient

Sources:
¹⁷Gene Expression Omnibus DataSets
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Search GEO for disease gene expression data for Immunodeficiency 7, Tcr-Alpha/beta Deficient.

Pathways for genes affiliated with Immunodeficiency 7, Tcr-Alpha/beta Deficient

Sources:
⁵²PathCards, ⁵⁷Reactome, ⁶²Thomson Reuters, ⁵⁵QIAGEN, ³¹KEGG, ³⁹NCBI BioSystems Database
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Pathways related to Immunodeficiency 7, Tcr-Alpha/beta Deficient according to GeneCards Suite gene sharing:

(show all 15)

id	Super pathways	Score	Top Affiliating Genes
1	CD28 co-stimulation⁵⁷ Show member pathways Costimulation by the CD28 family⁵⁷ CD28 dependent PI3K/Akt signaling⁵⁷ VEGFR2 mediated vascular permeability⁵⁷ CD28 dependent Vav1 pathway⁵⁷ Activation of AKT2⁵⁷	9.1	TRA, TRAC
2	Immune response Antigen presentation by MHC class II⁶² Show member pathways G-protein signaling N-RAS regulation pathway⁶² Immune response IL-22 signaling pathway⁶² IL-22 Pathway⁵⁵	9.1	TRA, TRAC
3	TCR signaling (REACTOME)⁵⁷ Show member pathways TCR signaling⁵⁷ Downstream TCR signaling⁵⁷	9.1	TRA, TRAC
4	B cell receptor signaling pathway (KEGG)³¹ Show member pathways B cell receptor signaling pathway³¹ T cell receptor signaling pathway³¹ TCR Signaling Pathway³⁹ BCR signaling pathway³⁹	9.1	TRA, TRAC
5	Development Angiotensin activation of ERK⁶² Show member pathways Signal transduction IP3 signaling⁶² Development Angiotensin signaling via PYK2⁶² Development EDNRB signaling⁶² Development ACM2 and ACM4 activation of ERK⁶² Development G-Proteins mediated regulation MARK-ERK signaling⁶² Cell adhesion Integrin inside-out signaling⁶² Development EPO-induced MAPK pathway⁶²	9.1	TRA, TRAC
6	Immune response NFAT in immune response⁶² Show member pathways Immune response ICOS pathway in T-helper cell⁶² Immune response T cell receptor signaling pathway⁶² Immune response CD28 signaling⁶²	9.1	TRA, TRAC
7	Immunoregulatory interactions between a Lymphoid and a non-Lymphoid cell⁵⁷	9.1	TRA, TRAC
8	Immune response Function of MEF2 in T lymphocytes⁶² Show member pathways Development Role of HDAC and calcium/calmodulin-dependent kinase (CaMK) in control of skeletal myogenesis⁶²	9.1	TRA, TRAC
9	G-protein signaling_Rap1A regulation pathway⁶²	9.1	TRA, TRAC
10	G-protein signaling_Regulation of RAC1 activity⁶²	9.1	TRA, TRAC
11	Transcription_NF-kB signaling pathway⁶²	9.1	TRA, TRAC
12	Signal transduction_Erk Interactions- Inhibition of Erk⁶²	9.1	TRA, TRAC
13	Translocation of ZAP-70 to Immunological synapse⁵⁷ Show member pathways Generation of second messenger molecules⁵⁷ Phosphorylation of CD3 and TCR zeta chains⁵⁷ PD-1 signaling⁵⁷	9.1	TRA, TRAC
14	IL12-mediated signaling events³⁹ Show member pathways Immune response IL-12-induced IFN-gamma production⁶²	9.1	TRA, TRAC
15	Cytokines and Inflammatory Response³⁹	9.1	TRA, TRAC