<?xml version="1.0" encoding="UTF-8"?><xml><records><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Gana, S</style></author><author><style face="normal" font="default" size="100%">Sainati, L</style></author><author><style face="normal" font="default" size="100%">Frau, M R</style></author><author><style face="normal" font="default" size="100%">Monciotti, C</style></author><author><style face="normal" font="default" size="100%">Poli, F</style></author><author><style face="normal" font="default" size="100%">Cannioto, Z</style></author><author><style face="normal" font="default" size="100%">Comelli, M</style></author><author><style face="normal" font="default" size="100%">Danesino, C</style></author><author><style face="normal" font="default" size="100%">Minelli, A</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">Shwachman-Diamond syndrome and type 1 diabetes mellitus: more than a chance association?</style></title><secondary-title><style face="normal" font="default" size="100%">Exp Clin Endocrinol Diabetes</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Exp. Clin. Endocrinol. Diabetes</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Bone Marrow Diseases</style></keyword><keyword><style  face="normal" font="default" size="100%">CD4-CD8 Ratio</style></keyword><keyword><style  face="normal" font="default" size="100%">Diabetes Mellitus, Type 1</style></keyword><keyword><style  face="normal" font="default" size="100%">Exocrine Pancreatic Insufficiency</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Heterozygote</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Immune System</style></keyword><keyword><style  face="normal" font="default" size="100%">Infant</style></keyword><keyword><style  face="normal" font="default" size="100%">Italy</style></keyword><keyword><style  face="normal" font="default" size="100%">Lipomatosis</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Mutation</style></keyword><keyword><style  face="normal" font="default" size="100%">Prevalence</style></keyword><keyword><style  face="normal" font="default" size="100%">Proteins</style></keyword><keyword><style  face="normal" font="default" size="100%">Registries</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2011</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2011 Nov</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">119</style></volume><pages><style face="normal" font="default" size="100%">610-2</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;Shwachman-Diamond syndrome is a rare clinical condition consisting of exocrine pancreatic dysfunction, various degree of pancytopenia, and metaphyseal dysplasia. The majority of Shwachman-Diamond syndrome cases result from mutations in the Shwachman-Bodian-Diamond Syndrome gene. To date, type 1 diabetes mellitus has only been reported in 4 independent cases presenting with Shwachman-Diamond syndrome, 3 of them with molecular confirmation of the diagnosis. We describe 2 unrelated patients with clinical and molecular features typical of Shwachman-Diamond syndrome and type 1 diabetes mellitus. In addition, we report the occurrence rate of type 1 diabetes mellitus in the Italian registry for Shwachman-Diamond syndrome, which is low (3.23%) but increased at least 30-fold over the type 1 diabetes mellitus occurrence rate in the general population. No evidence of a direct correlation between Shwachman-Diamond syndrome and type 1 diabetes mellitus have been reported, therefore the presence of both diseases in the same patient might be a chance association, however we suggest that the defects in immune regulation of Shwachman-Diamond syndrome might play a role in the development of type 1 diabetes mellitus.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">10</style></issue><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/21553366?dopt=Abstract</style></custom1></record></records></xml>