Complement factor 2 deficiency: a clinical and serological family study.
Inherited complement deficiencies are associated with a variety of connective tissue diseases. A family with inherited deficiency of complement factor 2 (C2) is described in which two family members with homozygous C2 deficiency developed cutaneous vasculitis and sicca syndrome. The other family members had heterozygous C2 deficiency and each member had the HLA-A25, B18, DR2 (w15) haplotype. The mother had seropositive rheumatoid arthritis. Further studies showed the presence of cryoglobulins, antibodies against endothelial cells, and anticardiolipin antibodies.
Lupus Arthritis Research Unit, Rayne Institute, St Thomas's Hospital, London, United Kingdom.
D
D
D'Cruz
J
J
Taylor
T
T
Ahmed
R
R
Asherson
M
M
Khamashta
G R
GR
Hughes
D000328:Adult; D003175:Complement C2 / Q000172:deficiency*; D003240:Connective Tissue Diseases / Q000235:genetics / Q000276:immunology*; D005190:Family; D005260:Female; D015234:HLA-A Antigens / Q000235:genetics; D015235:HLA-B Antigens / Q000235:genetics; D059911:HLA-B18 Antigen; D015802:HLA-DR2 Antigen / Q000235:genetics; D006239:Haplotypes; D006801:Humans; D008297:Male; D012150:Polymorphism, Restriction Fragment Length
D003175:Complement C2; D015234:HLA-A Antigens; C037019:HLA-A*25 antigen; D015235:HLA-B Antigens; D059911:HLA-B18 Antigen; D015802:HLA-DR2 Antigen