[Homozygous C7 defect in a German family].
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.
Pietsch
H
H
Universitäts-Kinderklinik Düsseldorf.
Raab
K
K
Lalyko
K
K
Wahn
V
V
D002648:Child; D003184:Complement C7 / Q000172:deficiency* / Q000235:genetics; D015938:Complement Membrane Attack Complex / Q000172:deficiency* / Q000235:genetics; D003170:Complement Pathway, Alternative / Q000235:genetics; D003171:Complement Pathway, Classical / Q000235:genetics; D006720:Homozygote; D006801:Humans; D015151:Immunoblotting; D007153:Immunologic Deficiency Syndromes / Q000235:genetics* / Q000276:immunology; D008297:Male
D003184:Complement C7; D015938:Complement Membrane Attack Complex
Homozygoter C7-Defekt in einer deutschen Familie.