MCID: IMM067
MIFTS: 20

Immunodeficiency 7, Tcr-Alpha/beta Deficient malady

Categories: Genetic diseases, Blood diseases, Rare diseases, Immune diseases

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

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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:



External Ids:

OMIM52 615387
Orphanet54 ORPHA397959
MeSH39 D007153

Summaries for Immunodeficiency 7, Tcr-Alpha/beta Deficient

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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 and liver.

Description from OMIM:52 615387

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

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

idRelated DiseaseScoreTop Affiliating Genes
1cr2-related common variable immune deficiency10.9

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

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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 Frequency 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

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Drugs for Immunodeficiency 7, Tcr-Alpha/beta Deficient (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
LenograstimapprovedPhase 21202135968-09-1
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
2Antiviral AgentsPhase 29732
3JM 3100Phase 2132
4Anti-Retroviral AgentsPhase 23232
5Anti-Infective AgentsPhase 221402
6Adjuvants, ImmunologicPhase 22484
7Anti-HIV AgentsPhase 23100
8Liver ExtractsPhase 1, Phase 23868

Interventional clinical trials:

idNameStatusNCT IDPhase
1TCR Alpha/Beta Depletion for HSCT From Haploidentical and Unrelated Donors in the Treatment of PIDRecruitingNCT02327351Phase 2, Phase 3
2Safety Study of Gene Modified Donor T-cells Following TCR Alpha Beta Depleted Stem Cell TransplantRecruitingNCT02065869Phase 1, Phase 2
3A Trial of Plerixafor/G-CSF as Additional Agents for Conditioning Before TCR Alpha/Beta Depleted HSCT in WAS PatientsRecruitingNCT03019809Phase 2

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

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

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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

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

36
T cells, Liver

Publications for Immunodeficiency 7, Tcr-Alpha/beta Deficient

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Variations for Immunodeficiency 7, Tcr-Alpha/beta Deficient

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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
1TRACNG_001332.2: g.1074699G> ASNVPathogenicrs397514259GRCh37Chr 14, 23019608: 23019608

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

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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

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

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Sources for Immunodeficiency 7, Tcr-Alpha/beta Deficient

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet