Immunodeficiency 20 (IMD20)

Alias:

Autosomal Recessive Primary Immunodeficiency with Defective Spontaneous Natural Killer Cell Cytotoxicity

Imd20

Autosomal Recessive Primary Immunodeficiency with Defective Spontaneous Nk Cell Cytotoxicity

Cd16 Deficiency

Immunodeficiency, Type 20

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Immunodeficiency 20, also known as autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity, is related to common variable immunodeficiency and dermatitis, atopic, 8. An important gene associated with Immunodeficiency 20 is FCGR3A (Fc Gamma Receptor IIIa), and among its related pathways/superpathways are Innate Immune System and Interactions of natural killer cells in pancreatic cancer. Affiliated tissues include nk cells and skin, and related phenotypes are recurrent otitis media and recurrent sinusitis

Related ID：

MALACARDS：IMM077

OMIM：615707

MESH：D007153