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Case Reports
. 1979 Jun;32(6):528-33.
doi: 10.1136/jcp.32.6.528.

HLA-linked C2 deficiency in a Dutch patient with systemic lupus erythematosus

L Berrens, H B de la Faille, E Borst-Eilers
Case Reports

HLA-linked C2 deficiency in a Dutch patient with systemic lupus erythematosus

L Berrens et al. J Clin Pathol. 1979 Jun.

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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References

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