biostudies-literatureUnknown88(6)Degn SERecent studies have revealed profound developmental consequences of mutations in genes encoding proteins of the lectin pathway of complement activation, a central component of the innate immune system. Apart from impairment of immunity against microorganisms, it is known that hereditary deficiencies of this system predispose one to autoimmune conditions. Polymorphisms in complement genes are linked to, for example, atypical hemolytic uremia and age-dependent macular degeneration. The complement system comprises three convergent pathways of activation: the classical, the alternative, and the lectin pathway. The recently discovered lectin pathway is less studied, but polymorphisms in the plasma pattern-recognition molecule mannan-binding lectin (MBL) are known to impact its level, and polymoAmerican journal of human genetics689-705https://www.ebi.ac.uk/biostudies/studies/S-EPMC3113252biostudies-literatureDisease-causing mutations in genes of the complement system.PMC3113252Degn SEThiel SJensenius JCfalseDisease-causing mutations in genes of the complement system.Recent studies have revealed profound developmental consequences of mutations in genes encoding proteins of the lectin pathway of complement activation, a central component of the innate immune system. Apart from impairment of immunity against microorganisms, it is known that hereditary deficiencies of this system predispose one to autoimmune conditions. Polymorphisms in complement genes are linked to, for example, atypical hemolytic uremia and age-dependent macular degeneration. The complement system comprises three convergent pathways of activation: the classical, the alternative, and the lectin pathway. The recently discovered lectin pathway is less studied, but polymorphisms in the plasma pattern-recognition molecule mannan-binding lectin (MBL) are known to impact its level, and polymo2011-01-01T00:00:00Z2011 Jun2025-06-01T01:08:32.197Z2025-06-01T01:08:32.197ZS-EPMC31132522166499610.1016/j.ajhg.2011.05.011