Immunodeficiency 57 with Autoinflammation (IMD57)

Immunodeficiency 57 with Autoinflammation, also known as immunodeficiency 57, is related to familial behcet-like autoinflammatory syndrome and polyglucosan body myopathy 1 with or without immunodeficiency. An important gene associated with Immunodeficiency 57 with Autoinflammation is RIPK1 (Receptor Interacting Serine/Threonine Kinase 1), and among its related pathways/superpathways are Signal Transduction and Toll-like receptor signaling pathway. Affiliated tissues include b cells and lung, and related phenotypes are inflammation of the large intestine and diarrhea