Inherited Immunodeficiency

Abstract

Abstract Inborn errors of immunity (IEI) are inherited disorders resulting in defects in the immune system leading to increased susceptibility to infection, autoimmune diseases, autoinflammation, a failure of the inflammatory response and/or lymphocyte apoptosis as well as an increased susceptibility to neoplasia. Inheritance can be recessive or dominant, x‐linked or autosomal, and penetrance may be variable. Commonly, IEI present with cutaneous infections or non‐infectious skin manifestations – some are mainly characterised by their dermatological presentation. IEI 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, autoinflammatory or complement disorders. The most prevalent of these IEI associated with dermatological manifestations are discussed and characteristic figures are provided.

Authors 2

1. Tim Niehues Aachen

   RWTH Aachen University · Helios Klinikum Krefeld

   Affiliation as printed

   Centre for Child Health and Adolescence, HELIOS Klinikum, Krefeld; Academic Hospital, RWTH, Aachen; Immunodeficiency and Rheumatology Centre, Krefeld, Germany

2. Andrew Richard Gennery

   Newcastle University · Great North Children's Hospital

   Affiliation as printed

   Translational and Clinical Research Institute, Newcastle University, and Paediatric Haematopoietic Stem Cell Transplant Unit, Great North Children's Hospital, Newcastle upon Tyne, UK