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Inherited disorders of the complement system

Authors
M Kathryn Liszewski, PhD
John P Atkinson, MD
Section Editor
Peter H Schur, MD
Deputy Editor
Anna M Feldweg, MD

INTRODUCTION

Inherited deficiencies of complement components are rare disorders that predispose to bacterial infections and systemic lupus erythematosus (SLE). They are associated with predictable defects in complement-dependent function, as the affected individual loses not only the activity of the deficient protein, but also the functions of the proteins that follow in the cascade.

Inherited complete deficiencies of regulators lead to consumption of multiple components in a pathway while haploinsufficiency predisposes to atypical hemolytic uremic syndrome (aHUS) and age-related macular degeneration (AMD).

Inherited disorders of the complement system will be reviewed here. Acquired disorders and the general evaluation of the complement system are discussed separately. (See "Acquired deficiencies of the complement system" and "Overview and clinical assessment of the complement system" and "Complement pathways".)

CLINICAL MANIFESTATIONS

Deficiencies in a component of the activating cascades — Inherited disorders of complement components present predominantly with recurrent infections and/or systemic lupus erythematosus (SLE) [1-3].

Infections – Patients with deficiency of a complement pathway protein are susceptible to recurrent sinopulmonary infections, bacteremia, and/or meningitis. The pathogens most commonly implicated are encapsulated bacteria, such as Streptococcus pneumoniae, Haemophilus influenzae type b, and Neisseria meningitidis. (See "Approach to the child with recurrent infections" and "Approach to the adult with recurrent infections".)

                             

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Literature review current through: Nov 2016. | This topic last updated: Fri Jul 17 00:00:00 GMT+00:00 2015.
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