Immunodeficiency 48 (IMD48)

Alias:
Combined Immunodeficiency Due to Zap70 Deficiency
Zeta-Associated-Protein 70 Deficiency
Imd48
Selective T-Cell Defect
Stcd
Severe Combined Immunodeficiency, Atypical
Immunodeficiency, Type 48
Zap70 Deficiency
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Immunodeficiency 48, also known as combined immunodeficiency due to zap70 deficiency, is related to severe combined immunodeficiency, atypical and zap70-related severe combined immunodeficiency, and has symptoms including diarrhea An important gene associated with Immunodeficiency 48 is ZAP70 (Zeta Chain Of T Cell Receptor Associated Protein Kinase 70). Affiliated tissues include t cells and lymph node, and related phenotypes are recurrent bacterial infections and recurrent viral infections
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
--
7
46
6

Medical Symptom

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Description
HPO Frequency
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HPO Source Accession
No data available

Gene & Mutation

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No data available

Disease Model

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MGI
Related Gene
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Publications
No data available

References Literature

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IF
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