Immunodeficiency 30 (IMD30)

Alias:
Mendelian Susceptibility to Mycobacterial Diseases Due to Complete Il12rb1 Deficiency
Imd30
Mendelian Susceptibility to Interleukin 12 Receptor Beta 1 Deficiency
Msmd Due to Complete Interleukin 12 Receptor Beta 1 Deficiency
Msmd Due to Complete Il12rb1 Deficiency
Il12rb1 Deficiency
Immunodeficiency, Type 30
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Immunodeficiency 30, also known as mendelian susceptibility to mycobacterial diseases due to complete il12rb1 deficiency, is related to mendelian susceptibility to mycobacterial diseases due to complete il12rb1 defic and mendelian susceptibility to mycobacterial diseases. An important gene associated with Immunodeficiency 30 is IL12RB1 (Interleukin 12 Receptor Subunit Beta 1), and among its related pathways/superpathways are Immune response Antigen presentation by MHC class II and IL12-mediated signaling events. Affiliated tissues include nk cells and t cells, and related phenotypes are immunodeficiency and recurrent mycobacterial infections
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Child
--
9
62
35

Medical Symptom

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Gene & Mutation

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MGI
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References Literature

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