Immunodeficiency 7 (IMD7)

Alias:
Tcr-Alpha-Beta-Positive T-Cell Deficiency
Immunodeficiency 7, Tcr-Alpha/beta Deficient
T-Cell Receptor-Alpha/beta Deficiency
Imd7
Tcr-Alpha/beta Deficiency
T-Cell Receptor Alpha/beta Deficiency
Tcr-Alpha-Beta+ T-Cell Deficiency
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Immunodeficiency 7, also known as tcr-alpha-beta-positive t-cell deficiency, is related to immunodeficiency, common variable, 7 and immunodeficiency 45. An important gene associated with Immunodeficiency 7 is TRAC (T Cell Receptor Alpha Constant), and among its related pathways/superpathways are Development Angiotensin activation of ERK and Immune response Antigen presentation by MHC class II. Affiliated tissues include t cells and bone marrow, and related phenotypes are failure to thrive and hepatomegaly
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
<1/1000000
14
186
2

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
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