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

Am J Med Genet. 1982 Sep;13(1):57-62. doi: 10.1002/ajmg.1320130110.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Female
  • Humans
  • Male
  • Panniculitis, Nodular Nonsuppurative / blood
  • Panniculitis, Nodular Nonsuppurative / complications
  • Panniculitis, Nodular Nonsuppurative / genetics*
  • Pedigree
  • Phenotype
  • alpha 1-Antitrypsin Deficiency*