Seligmann M, Brouet J C, Sasportes M
Ann Intern Med. 1979 Aug;91(2):216-7. doi: 10.7326/0003-4819-91-2-216.
Homozygous C2 deficiency in a 19-year-old boy was associated with variable immunodeficiency manifested by marked hypoimmunoglobulinemia and impaired antibody responses, normal circulating B lymphocytes, and subnormal T-cell functions. Neither antilymphocytic autoantibodies nor chromosomal abnormalities were found. Serum immunoglobulin levels were within normal limits in his parents and brother who were heterozygous for C2 deficiency. The patient's lymphocytes were homozygous at the HLA-D locus but expressed an antigen different from DW2.
一名19岁男孩的纯合子C2缺乏症与可变免疫缺陷相关，表现为显著的低免疫球蛋白血症和抗体反应受损、循环B淋巴细胞正常以及T细胞功能低于正常水平。未发现抗淋巴细胞自身抗体和染色体异常。他的父母和兄弟为C2缺乏症杂合子，血清免疫球蛋白水平在正常范围内。患者的淋巴细胞在HLA - D位点为纯合子，但表达的抗原不同于DW2。
