1. European Society for Immunodeficiencies (ESID) and European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN RITA) Complement Guideline: Deficiencies, Diagnosis, and Management
- Author
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Kathleen E. Sullivan, Ashley Frazer-Abel, Mikko Seppänen, Anete Sevciovic Grumach, Michael Kirschfink, Stephen Jolles, Nicholas Brodszki, Elena E. Perez, Jiri Litzman, Children's Hospital, HUS Children and Adolescents, Clinicum, Department of Medicine, University of Helsinki, Infektiosairauksien yksikkö, and HUS Inflammation Center
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0302 clinical medicine ,Immunology and Allergy ,Medicine ,classical pathway ,Societies, Medical ,0303 health sciences ,HUMAN C1Q DEFICIENCY ,3. Good health ,Complement (complexity) ,Europe ,HEREDITARY ANGIOEDEMA ,030220 oncology & carcinogenesis ,Practice Guidelines as Topic ,Hereditary angioedema ,Original Article ,Disease Susceptibility ,medicine.symptom ,FACTOR-H ,GENE POLYMORPHISM ,Primary Immunodeficiency Diseases ,Immunology ,Complement ,alternative pathway ,Infections ,Autoimmune Diseases ,03 medical and health sciences ,Classical complement pathway ,Patient Education as Topic ,MANNOSE-BINDING LECTIN ,Atypical hemolytic uremic syndrome ,Humans ,Genetic Testing ,030304 developmental biology ,Inflammation ,PROPERDIN DEFICIENCY ,Angioedema ,business.industry ,CLINICAL PRESENTATION ,STEM-CELL TRANSPLANTATION ,Complement System Proteins ,MACULAR DEGENERATION ,medicine.disease ,Complement system ,Mutation ,mannan-binding lectin ,Alternative complement pathway ,Primary immunodeficiency ,HEMOLYTIC-UREMIC SYNDROME ,complement deficiencies ,3111 Biomedicine ,business - Abstract
This guideline aims to describe the complement system and the functions of the constituent pathways, with particular focus on primary immunodeficiencies (PIDs) and their diagnosis and management. The complement system is a crucial part of the innate immune system, with multiple membrane-bound and soluble components. There are three distinct enzymatic cascade pathways within the complement system, the classical, alternative and lectin pathways, which converge with the cleavage of central C3. Complement deficiencies account for ~5% of PIDs. The clinical consequences of inherited defects in the complement system are protean and include increased susceptibility to infection, autoimmune diseases (e.g., systemic lupus erythematosus), age-related macular degeneration, renal disorders (e.g., atypical hemolytic uremic syndrome) and angioedema. Modern complement analysis allows an in-depth insight into the functional and molecular basis of nearly all complement deficiencies. However, therapeutic options remain relatively limited for the majority of complement deficiencies with the exception of hereditary angioedema and inhibition of an overactivated complement system in regulation defects. Current management strategies for complement disorders associated with infection include education, family testing, vaccinations, antibiotics and emergency planning.
- Published
- 2020
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