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  • Title: HLA-linked C2 deficiency in a Dutch patient with systemic lupus erythematosus.
    Author: Berrens L, de la Faille HB, Borst-Eilers E.
    Journal: J Clin Pathol; 1979 Jun; 32(6):528-33. PubMed ID: 469009.
    Abstract:
    A patient with systemic lupus erythematosus was studied whose blood serum on repeated occasions showed undetectable levels of haemolytic omplement (C). A detailed investigation of individual C components in the serum of the proposita and her family revealed the absence of functional C2 in the patient and half-normal values in the relatives. C4 levels in the family, but not in the patient, were above normal, whereas the levels of factor B were low in all cases. No abnormalities were noted in C3, C9, or C1INH. Tissue typing showed linkage of the C2-deficiency gene with the HLA-A10/B18 and A9/B18 haplotypes. No linkage with red cell antigens and no relationship with plasma kallikrein levels was found.
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