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Immunodeficiency 52 (IMD52)

Alias:
Severe Combined Immunodeficiency Due to Lat Deficiency
Imd52
Scid Due to Lat Deficiency
Immunodeficiency, Type 52
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Immunodeficiency 52, is also known as severe combined immunodeficiency due to lat deficiency. An important gene associated with Immunodeficiency 52 is LAT (Linker For Activation Of T Cells). Affiliated tissues include bone marrow and bone, and related phenotypes are splenomegaly and recurrent pneumonia
Related ID：
MALACARDS：IMM150
OMIM：617514
MESH：D007153

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Infant
<1/1000000
1
20
5
IMM150

Medical Symptom

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

Gene & Mutation

#
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
No Data Found!
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