Genetic study of a family with two members with weber christian disease (panniculitis) and alpha 1 antitrypsin deficiency

✍ Scribed by Clark, Peggy ;Breit, S. N. ;Dawkins, R. L. ;Penny, R. ;Opitz, John M.

• Publisher: John Wiley and Sons
• Year: 1982
• Tongue: English
• Weight: 317 KB
• Volume: 13
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320130110

✦ Synopsis

Abstract

Alpha 1 antitrypsin phenotypes and serum levels are presented for a family in which two brothers have Weber Christian disease and α1 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 α 1 antitrypsin deficiency and the development of symptoms.