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 ...

Verfasser: Berrens, L
de la Faille, H B
Borst-Eilers, E
Dokumenttyp: TEXT
Erscheinungsdatum: 1979
Verlag/Hrsg.: BMJ Publishing Group Ltd
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.