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

American Journal of Medical Genetics
P ClarkR Penny

Abstract

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.

Citations

Jun 21, 2008·Orphanet Journal of Rare Diseases·Laura Fregonese, Jan Stolk
Apr 1, 1988·Journal of the American Academy of Dermatology·S J HendrickJ T Headington
Sep 25, 2004·Journal of the American Academy of Dermatology·Pedram GeraminejadMarta VanBeek
Nov 26, 2015·The British Journal of Dermatology·I BlancoS Janciauskiene
Mar 15, 1993·American Journal of Medical Genetics·P Clark, A Y Chong
Mar 1, 1995·Human Nature : an Interdisciplinary Biosocial Perspective·B Smuts
Dec 1, 1992·Human Nature : an Interdisciplinary Biosocial Perspective·T Crippen
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Jan 1, 1988·CRC Critical Reviews in Biochemistry·B Wasylyk
Aug 21, 2001·Journal of the American Academy of Dermatology·L Requena, E Sánchez Yus

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