Early manifestation and recognition of C2 complement deficiency in the form of pyogenic infection in infancy

Abstract

Objective: Although frequently asymptomatic, C2 complement component deficiency may lead to severe pyogenic infections or lupus-like illness. In the present report, we describe infectious manifestations in infancy and childhood in our C2-deficient patients.

Method: A retrospective study of clinical manifestation in three patients was carried out. C2 deficiency was proved both by undetectable serum C2 level and typical homozygous 28 bp deletion of the C2 gene.

Results: All patients were hospitalized at least once by the age of 12 months, each had one episode of meningitis in infancy, one also had arthritis with septicaemia. Infections of the respiratory tract were the causes of other hospitalizations. Two patients also suffered from frequent mild respiratory tract infections; in both patients, decreased immunoglobulin IgA and immunoglobulin IgG2 or immunoglobulin IgG3 levels were recorded.

Conclusion: Our observations point to an early manifestation of C2 deficiency within the first year of life, with meningitis as the most severe complication. The severity of immunodeficiency may be influenced by concomitant deficiencies of immunoglobulin isotypes.