Heterozygous C2-deficiency and myasthenia gravis.
Complement deficiency states in myasthenia gravis (MG) have not been reported previously. We describe a 19-year-old woman with typical MG and heterozygous C2 deficiency, along with HLA typing of the patient and her immediate family.
D000109:Acetylcholine / Q000276:immunology; D000328:Adult; D000906:Antibodies / Q000032:analysis; D003175:Complement C2 / Q000172:deficiency* / Q000235:genetics; D003176:Complement C3 / Q000032:analysis; D003181:Complement C4 / Q000032:analysis; D005260:Female; D005838:Genotype; D006680:HLA Antigens / Q000032:analysis / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D009157:Myasthenia Gravis / Q000276:immunology*; D010375:Pedigree; D011950:Receptors, Cholinergic / Q000276:immunology
D000906:Antibodies; D003175:Complement C2; D003176:Complement C3; D003181:Complement C4; D006680:HLA Antigens; D011950:Receptors, Cholinergic; D000109:Acetylcholine