Inherited Immunodeficiency

Tim Niehues, Andrew R. Gennery


Primary immunodeficiencies (PIDs) are inherited disorders resulting in defects in the immune system leading to increased susceptibility to infection, autoimmune diseases, autoinflammation and failure of the inflammatory response and/or lymphocyte apoptosis as well as an increased susceptibility to neoplasia. Commonly, PIDs present with cutaneous infections or non‐infectious skin manifestations – some are mainly characterized by their dermatological presentation. PIDs are classified as combined immunodeficiencies with or without associated or syndromic features, predominantly antibody deficiencies, diseases with immune dysregulation, congenital defects of phagocyte number and function, defects in innate immunity, or autoinflammatory or complement disorders. The most prevalent of these primary immunodeficiencies are discussed.
Keywords immunodeficiency, susceptibility to infection, antibody deficiency, chronic granulomatous disease, severe combined immunodeficiency, SCID, Omenn syndrome, Wiskott–Aldrich syndrome, hyper‐IgE syndrome, DOCK8 deficiency, NEMO deficiency


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