Immunodeficiency 71 with Inflammatory Disease and Congenital Thrombocytopenia (IMD71)

Immunodeficiency 71 with Inflammatory Disease and Congenital Thrombocytopenia, also known as platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, is related to combined t and b cell immunodeficiency and thrombocytopenia. An important gene associated with Immunodeficiency 71 with Inflammatory Disease and Congenital Thrombocytopenia is ARPC1B (Actin Related Protein 2/3 Complex Subunit 1B), and among its related pathways/superpathways are Regulation of actin dynamics for phagocytic cup formation and Immune response CD16 signaling in NK cells. Affiliated tissues include neutrophil and t cells, and related phenotypes are skin rash and perinuclear antineutrophil antibody positivity