Document Detail

Genetic study of a family with two members with Weber Christian disease (panniculitis) and alpha 1 antitrypsin deficiency.
MedLine Citation:
PMID:  6982619     Owner:  NLM     Status:  MEDLINE    
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.
P Clark; S N Breit; R L Dawkins; R Penny
Related Documents :
23402899 - Disease-modified glycogen synthase kinase-3β intervention by melatonin arrests the pat...
10597489 - Search for susceptibility genes, gene x gene interactions, and gene x environment inter...
8140899 - Small arterial granular degeneration in familial binswanger's syndrome.
11686409 - Ultrastructural findings in the peripheral nerve in a family with the intermediate form...
3354509 - Familial hypercholesterolemia with unusual foamy histiocytes. report of a case with mye...
25217409 - Raman spectroscopy for a rapid diagnosis of sickle cell disease in human blood samples:...
11724899 - Immunohistochemistry of prpsc within bovine spongiform encephalopathy brain samples wit...
3830959 - Crohn's disease of the esophagus. a case report.
2390049 - Orange/black discolouration of the bowel (at laparotomy) due to clofazimine.
Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of medical genetics     Volume:  13     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1982 Sep 
Date Detail:
Created Date:  1982-12-16     Completed Date:  1982-12-16     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  57-62     Citation Subset:  IM    
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Panniculitis, Nodular Nonsuppurative / blood,  complications,  genetics*
alpha 1-Antitrypsin Deficiency*

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Autoantibodies in coalminers: their relationship to the development of progressive massive fibrosis.
Next Document:  Penetration of intravenously administered cefoxitin into the aqueous humor of inflamed human eyes.