Immunodeficiency 8 with Lymphoproliferation (IMD8)

Alias:
Severe Combined Immunodeficiency Due to Coro1a Deficiency
Immunodeficiency 8
Imd8
Severe Combined Immunodeficiency Due to Coronin-1a Deficiency
Scid Due to Coronin-1a Deficiency
Scid Due to Coro1a Deficiency
Immunodeficiency, Type 8
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Immunodeficiency 8 with Lymphoproliferation, also known as severe combined immunodeficiency due to coro1a deficiency, is related to immunodeficiency, common variable, 8, with autoimmunity and autoimmune disease. An important gene associated with Immunodeficiency 8 with Lymphoproliferation is CORO1A (Coronin 1A). Affiliated tissues include t cells and thymus, and related phenotypes are gastroesophageal reflux and immunodeficiency
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
Unknown
<1/1000000
2
27
7

Medical Symptom

#
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

Name
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
Year
IF
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