Complement component deficiencies and infection: C5, C8 and C3 deficiencies in three families.
Three families are described with complement component deficiencies. In one family, five children had C5 deficiency; in a second family, two children had C8 deficiency and one child in a third family had C3 deficiency. The index cases were identified during screening of patients with recurrent pyogenic infections, recurrent meningitis and meningococcaemia. Two of the five C5 deficient patients had recurrent meningitis and meningococcaemia, two had recurrent respiratory tract infections and otitis and one was healthy. One of the C8 deficient patients had meningitis, meningococcaemia and pneumonia, whereas his sibling with the same deficiency was healthy. The patient with C3 deficiency had four episodes of meningitis and recurrent otitis.
Sanal
O
O
Department of Paediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Loos
M
M
Ersoy
F
F
Kanra
G
G
Seçmeer
G
G
Tezcan
I
I
D002648:Child; D002675:Child, Preschool; D003176:Complement C3 / Q000172:deficiency*; D003182:Complement C5 / Q000172:deficiency*; D003185:Complement C8 / Q000172:deficiency*; D015941:Complement Hemolytic Activity Assay; D005260:Female; D006801:Humans; D008297:Male; D016920:Meningitis, Bacterial / Q000097:blood / Q000235:genetics*; D008586:Meningitis, Pneumococcal / Q000097:blood / Q000235:genetics*; D010375:Pedigree; D012008:Recurrence; D012141:Respiratory Tract Infections / Q000097:blood / Q000235:genetics*
D003176:Complement C3; D003182:Complement C5; D003185:Complement C8