Homozygous C7 defect in a German family
Pietsch, H.; Raab, K.; Lalyko, K.; Wahn, V.
Monatsschrift Kinderheilkunde Organ der Deutschen Gesellschaft für Kinderheilkunde 141(5): 412-415
1993
ISSN/ISBN: 0026-9298 PMID: 8326961 Document Number: 415852
An 11 year old boy with recurrent meningitis/sepsis (once without positive bacterial culture, once with demonstration of Neisseria meningitidis in blood) was evaluated for suspected immunodeficiency. Absent activity of both the classical and alternative pathway of complement suggested a defect of the membrane attack complex. Immunochemical and functional analyses together with family studies revealed a homozygous defect of the seventh component of complement in the boy. This is the first description of C7 deficiency in a German family.