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

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

Sources:
²⁷GTR, ³⁷MedGen, ³⁹MeSH, ⁵²OMIM, ⁵⁴Orphanet, ⁶⁴The Human Phenotype Ontology, ⁶⁸UMLS, ⁷⁰UniProtKB/Swiss-Prot
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Aliases & Descriptions for Immunodeficiency 7, Tcr-Alpha/beta Deficient:

Name: Immunodeficiency 7, Tcr-Alpha/beta Deficient ⁵² ⁷⁰

T-Cell Receptor-Alpha/beta Deficiency ⁵² ⁷⁰ ²⁷ ⁶⁸

Tcr-Alpha-Beta-Positive T-Cell Deficiency ⁵⁴

Tcr-Alpha-Beta+ T-Cell Deficiency ⁵⁴

Tcr-Alpha/beta Deficiency ⁷⁰

Immunodeficiency 7 ⁷⁰

Imd7 ⁷⁰

Characteristics:

Orphanet epidemiological data:

⁵⁴

tcr-alpha-beta-positive t-cell deficiency:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy

HPO:

⁶⁴

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

Classifications:

MalaCards categories:
Global: Genetic diseases, Rare diseases
Anatomical: Blood diseases, Immune diseases

See all MalaCards categories (disease lists)

Orphanet: ⁵⁴

Rare immunological diseases

External Ids:

OMIM⁵² 615387

Orphanet⁵⁴ ORPHA397959

MedGen³⁷ C3809332, CN179773

MeSH³⁹ D007153

Summaries for Immunodeficiency 7, Tcr-Alpha/beta Deficient

Sources:
³⁶MalaCards, ⁵²OMIM, ⁷⁰UniProtKB/Swiss-Prot
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UniProtKB/Swiss-Prot:⁷⁰ 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 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). Affiliated tissues include t cells.

Description from OMIM:⁵² 615387

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

Sources:
²⁰GeneAnalytics, ²¹GeneCards
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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	10.9

Symptoms & Phenotypes for Immunodeficiency 7, Tcr-Alpha/beta Deficient

Sources:
⁵²OMIM, ⁶⁴The Human Phenotype Ontology
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Symptoms by clinical synopsis from OMIM:

615387

Clinical features from OMIM:

615387

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

⁶⁴

id	Description	HPO Source Accession
1	failure to thrive⁶⁴	HP:0001508
2	lymphadenopathy⁶⁴	HP:0002716
3	recurrent infections⁶⁴	HP:0002719
4	autoimmunity⁶⁴	HP:0002960

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

Sources:
¹BitterDB, ⁴ClinicalTrials, ¹⁰DGIdb, ¹⁴DrugBank, ²⁹HMDB, ³³IUPHAR, ⁵⁰Novoseek, ⁵⁶PharmGKB
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Drugs for Immunodeficiency 7, Tcr-Alpha/beta Deficient (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)

id

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

Lenograstim

approved

Phase 2

1220

135968-09-1

Synonyms:

G-CSF (CHO cell derived)

Glycosylated recombinant G-CSF

Glycosylated recombinant granulocyte colony stimulating factor

Granulocyte colony stimulating factor 3 (CHO cell derived)

Granulocyte colony-stimulating factor lenograstim

Lenograstim (genetical recombination)

Lenograstim rDNA

2

Antiviral Agents

Phase 2

9967

3

JM 3100

Phase 2

135

4

Anti-Retroviral Agents

Phase 2

3296

5

Anti-Infective Agents

Phase 2

22062

6

Adjuvants, Immunologic

Phase 2

2554

7

Anti-HIV Agents

Phase 2

3162

8

Liver Extracts

Phase 1, Phase 2

4067

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
3	A Trial of Plerixafor/G-CSF as Additional Agents for Conditioning Before TCR Alpha/Beta Depleted HSCT in WAS Patients	Recruiting	NCT03019809	Phase 2

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

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

Sources:
²⁷GTR
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Genetic tests related to Immunodeficiency 7, Tcr-Alpha/beta Deficient:

id	Genetic test	Affiliating Genes
1	T-Cell Receptor Alpha/beta Deficiency²⁷

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

Sources:
³⁶MalaCards
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MalaCards organs/tissues related to Immunodeficiency 7, Tcr-Alpha/beta Deficient:

³⁶

T cells

Publications for Immunodeficiency 7, Tcr-Alpha/beta Deficient

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

Sources:
⁵Clinvar, ²¹GeneCards, ⁵²OMIM, ⁵⁴Orphanet
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Genes related to Immunodeficiency 7, Tcr-Alpha/beta Deficient (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

id	Symbol	Description	Score	Implication	PubmedIds
1	TRAC	T-Cell Receptor Alpha Constant	1269.41	Molecular basis known ⁵² Pathogenic ⁵ Causative germline mutation ⁵⁴ GeneCards inferred via : Disorders (show sections)	21206088