HLA-linked C2 deficiency in a Dutch patient with systemic lupus erythematosus.
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... Mehr ...
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Dokumenttyp: | TEXT |
Erscheinungsdatum: | 1979 |
Verlag/Hrsg.: |
BMJ Publishing Group Ltd
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Schlagwörter: | Research Article |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-28992483 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | http://jcp.bmj.com/cgi/content/short/32/6/528 |
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.