Genetic study of a family with two members with Weber Christian disease (panniculitis) and alpha 1 antitrypsin deficiency.
Alpha 1 antitrypsin phenotypes and serum levels are presented for a family in which two brothers have Weber Christian disease and alpha 1 antitrypsin (PI) Z phenotypes. Clinical histories are described for these two men. A younger brother has the PI Z phenotype but does not have the disease, indicating that additional genetic and/or environmental factors contribute to the pathogenesis of Weber Christian disease. However, the two cases described provide additional evidence for a relationship between alpha 1 antitrypsin deficiency and the development of symptoms.
D000328:Adult; D005260:Female; D006801:Humans; D008297:Male; D010201:Panniculitis, Nodular Nonsuppurative / Q000097:blood / Q000150:complications / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D019896:alpha 1-Antitrypsin Deficiency