%0 Journal Article
%T Prolidase deficiency associated with systemic lupus erythematosus (SLE): single site experience and literature review
%A Yonatan Butbul Aviel
%A Hana Mandel
%A Emily Avitan ¨CHersh
%A Bergman Reuven
%A Eshach Adiv Orly
%A Luder Anthony
%A Brik Riva
%J Pediatric Rheumatology
%D 2012
%I BioMed Central
%R 10.1186/1546-0096-10-18
%X To describe a cohort of unrelated PD patients from Northern Israel whose inborn error of metabolism was associated with systemic lupus erythematosus (SLE) and to identify in the medical literature all PD cases mimicked by and/or associated with SLE.Three patients with PD associated with SLE were clinically, biochemically and genetically investigated. These patients were from 3 unrelated consanguineous families residing in Northern Israel. A computer-assisted (PubMed) search of the medical literature from 1975 to 2011 was performed using the following key words: Prolidase deficiency, SLE, and systemic lupus erythematosus.An association between PD and SLE was found in 10 PD patients. These 10 patients included three from our cohort of 23 PD patients, and seven out of just under 70 PD patients previously reported in the literature.The present findings underscore the relatively high incidence of the association between SLE and PD, suggesting that this association may not be coincidental. The phenotypic similarities between SLE and PD might suggest that the PEPD gene constitutes a modifier gene or a genetic risk factor in the causation of SLE.
%U http://www.ped-rheum.com/content/10/1/18/abstract