Immunodeficiency 24 (IMD24)

Alias:
Severe Combined Immunodeficiency Due to Ctps1 Deficiency
Imd24
Scid Due to Ctps1 Deficiency
Immunodeficiency, Type 24
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Immunodeficiency 24, is also known as severe combined immunodeficiency due to ctps1 deficiency. An important gene associated with Immunodeficiency 24 is CTPS1 (CTP Synthase 1), and among its related pathways/superpathways are Metabolism and Amino acid metabolism. Affiliated tissues include b cells and t cells, and related phenotypes are recurrent viral infections and decreased proportion of memory b cells
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
9
51
5

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

Name
CAS Number
Status
Phase
No data available

Disease Model

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

References Literature

Title
PMID
Journal
Year
IF
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