Severe Combined Immunodeficiency (SCID)

Alias:
Severe Combined Immunodeficiency Disease
Scid
Combined T and B Cell Inborn Immunodeficiency
Scid - [severe Combined Immunodeficiencies]
Immunodeficiency, Severe Combined
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Severe Combined Immunodeficiency, also known as scid, is related to severe combined immunodeficiency, x-linked and severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative. An important gene associated with Severe Combined Immunodeficiency is DCLRE1C (DNA Cross-Link Repair 1C), and among its related pathways/superpathways are Innate Immune System and Cytokine Signaling in Immune system. The drugs gamma-Globulins and Immunoglobulin G have been mentioned in the context of this disorder. Affiliated tissues include Blood, t cells and b cells, and related phenotypes are Reduced mammosphere formation and endocrine/exocrine gland
Related ID:
MESH:D016511
ICD11:963193284

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
XL
XLD
Newborn
1-9/100000
145
1835
154

Medical Symptom

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

Gene & Mutation

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Mutations
No data available

Related Drugs

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CAS Number
Status
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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
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IF
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