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.
D'Cruz
D
D
Lupus Arthritis Research Unit, Rayne Institute, St Thomas's Hospital, London, United Kingdom.
Taylor
J
J
Ahmed
T
T
Asherson
R
R
Khamashta
M
M
Hughes
G R
GR
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