@article {1756,
	title = {Shwachman-Diamond syndrome and type 1 diabetes mellitus: more than a chance association?},
	journal = {Exp Clin Endocrinol Diabetes},
	volume = {119},
	year = {2011},
	month = {2011 Nov},
	pages = {610-2},
	abstract = {<p>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.</p>},
	keywords = {Bone Marrow Diseases, CD4-CD8 Ratio, Diabetes Mellitus, Type 1, Exocrine Pancreatic Insufficiency, Female, Heterozygote, Humans, Immune System, Infant, Italy, Lipomatosis, Male, Mutation, Prevalence, Proteins, Registries},
	issn = {1439-3646},
	doi = {10.1055/s-0031-1275699},
	author = {Gana, S and Sainati, L and Frau, M R and Monciotti, C and Poli, F and Cannioto, Z and Comelli, M and Danesino, C and Minelli, A}
}
