Immunodeficiency 63 with Lymphoproliferation and Autoimmunity (IMD63)

Alias:
Il2rb Deficiency
Imd63
Immunodeficiency 63
Cd122 Deficiency
Interleukin 2 Receptor, Beta, Deficiency of
Deficiency of Interleukin 2 Receptor Beta
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Immunodeficiency 63 with Lymphoproliferation and Autoimmunity, also known as il2rb deficiency, is related to rheumatoid factor-negative polyarticular juvenile idiopathic arthritis and oligoarticular juvenile idiopathic arthritis. An important gene associated with Immunodeficiency 63 with Lymphoproliferation and Autoimmunity is IL2RB (Interleukin 2 Receptor Subunit Beta), and among its related pathways/superpathways are Signal Transduction and NF-kappaB Signaling. Affiliated tissues include nk cells and bone marrow, and related phenotypes are failure to thrive and decreased fetal movement
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Unknown
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8
82
3

Medical Symptom

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Categorization
Description
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HPO Source Accession
No data available

Gene & Mutation

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Disease Model

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MGI
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Publications
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References Literature

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