Hereditary complement (C6) deficiency associated with systemic lupus erythematosus, Sjögren's syndrome and hyperthyroidism

Results of clinical, serologic and histologic studies documenting an association between hereditary C6 deficiency and a connective tissue disease are provided. The propositus had systemic lupus erythematosus with prominent discoid features, Sjögren's syndrome and hyperthyroidism. Serum C6 was u...

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Bibliographic Details
Published inJournal of rheumatology Vol. 14; no. 5; p. 1030
Main Authors Trapp, R G, Mooney, E, Coleman, T H, Forristal, J, Herman, J H
Format Journal Article
LanguageEnglish
Published Canada 01.10.1987
Subjects
Complement C6 - deficiency
Complement C6 - genetics
Genetic Carrier Screening
HLA Antigens - genetics
Humans
Hyperthyroidism - genetics
Lupus Erythematosus, Systemic - genetics
Male
Middle Aged
Pedigree
Phenotype
Sjogren's Syndrome - genetics
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Summary:Results of clinical, serologic and histologic studies documenting an association between hereditary C6 deficiency and a connective tissue disease are provided. The propositus had systemic lupus erythematosus with prominent discoid features, Sjögren's syndrome and hyperthyroidism. Serum C6 was undetectable by radial immunodiffusion and hemolytic assays. Serologic and typing studies performed on 9 family members suggested an autosomal codominant transmission. No correlation with a specific HLA phenotype was established.
ISSN:0315-162X