{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,12]],"date-time":"2026-08-12T15:55:20Z","timestamp":1786550120202,"version":"build-2736575974"},"reference-count":13,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"1","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2017,1]]},"abstract":"<jats:title>\n                    <jats:bold>ABSTRACT<\/jats:bold>\n                  <\/jats:title>\n                  <jats:sec>\n                    <jats:title\/>\n                    <jats:p>Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism and a lack of dense granules in platelets. HPS types 1 and 4 are associated with a granulomatous enterocolitis that is phenotypically indistinguishable from Crohn's disease. We present two cases of HPS-associated Crohn's disease phenotype in which the patients were refractory to standard medical management. The pathophysiology of HPS is mediated by single-gene defects that alter endosome trafficking, and we hypothesize that this mechanism leads to the observed association with a CD phenotype.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.14309\/crj.2017.14","type":"journal-article","created":{"date-parts":[[2017,1,26]],"date-time":"2017-01-26T14:20:42Z","timestamp":1485440442000},"page":"e14","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":8,"title":["Two Complex Cases of Hermansky-Pudlak Syndrome Highlight a Potential Biologic Explanation for an Associated Crohn's Disease Phenotype"],"prefix":"10.14309","volume":"4","author":[{"given":"Anthony M.","family":"Sofia","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atsushi","family":"Sakuraba","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David T.","family":"Rubin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"issue":"1","key":"R1-14-20260710","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/S1542-3565(05)00858-X","article-title":"Intestinal disease in Hermansky-Pudlak syndrome: Occurrence of colitis and relation to genotype.","volume":"4","author":"Hussain","year":"2006","journal-title":"Clin Gastroenterol Hepatol"},{"issue":"2","key":"R2-14-20260710","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1182\/blood.V14.2.162.162","article-title":"Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: Report of two cases with histochemical studies.","volume":"14","author":"Hermansky","year":"1959","journal-title":"Blood"},{"issue":"10","key":"R3-14-20260710","doi-asserted-by":"crossref","first-page":"1083","DOI":"10.1001\/jamadermatol.2014.147","article-title":"Mucocutaneous granulomatous disease in a patient with Hermansky-Pudlak syndrome.","volume":"150","author":"Salvaggio","year":"2014","journal-title":"JAMA Dermatol"},{"issue":"8","key":"R4-14-20260710","doi-asserted-by":"crossref","first-page":"700","DOI":"10.1097\/MCG.0b013e3181fd2742","article-title":"The management of gastrointestinal disease in Hermansky-Pudlak syndrome.","volume":"45","author":"Mora","year":"2011","journal-title":"J Clin Gastroenterol"},{"issue":"9","key":"R6-14-20260710","doi-asserted-by":"crossref","first-page":"2090","DOI":"10.1111\/j.1572-0241.2006.00733.x","article-title":"Granulomatous enterocolitis associated with Hermansky-Pudlak syndrome.","volume":"101","author":"Grucela","year":"2006","journal-title":"Am J Gastroenterol"},{"key":"R7-14-20260710","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1111\/j.1463-1318.2006.01046.x","article-title":"Crohns-like colitis, enterocolitis and perianal disease in Hermansky-Pudlak syndrome.","volume":"8","author":"Hazzan","year":"2006","journal-title":"Colorectal Dis"},{"issue":"31","key":"R8-14-20260710","doi-asserted-by":"crossref","first-page":"29376","DOI":"10.1074\/jbc.M301294200","article-title":"BLOC-3, a protein complex containing the Hermansky-Pudlak syndrome gene products HPS1 and HPS4.","volume":"278","author":"Martina","year":"2003","journal-title":"J Biol Chem"},{"issue":"15","key":"R9-14-20260710","doi-asserted-by":"crossref","first-page":"8770","DOI":"10.1073\/pnas.1532040100","article-title":"Biogenesis of lysosomerelated organelles complex 3 (BLOC-3): A complex containing the Hermansky-Pudlak syndrome (HPS) proteins HPS1 and HPS4.","volume":"100","author":"Nazarian","year":"2003","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"22","key":"R10-14-20260710","doi-asserted-by":"crossref","first-page":"2135","DOI":"10.1016\/j.cub.2012.09.020","article-title":"BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab3238 guanine nucleotide exchange factor.","volume":"22","author":"Gerondopoulos","year":"2012","journal-title":"Curr Biol"},{"issue":"12","key":"R11-14-20260710","doi-asserted-by":"crossref","first-page":"2143","DOI":"10.1111\/j.1538-7836.2008.03178.x","article-title":"The role of Rab38 in platelet dense granule defects.","volume":"6","author":"Ninkovic","year":"2008","journal-title":"J Thromb Haemost"},{"issue":"6109","key":"R12-14-20260710","doi-asserted-by":"crossref","first-page":"960","DOI":"10.1126\/science.1229224","article-title":"A Rab32-dependent pathway contributes to Salmonella typhi host restriction.","volume":"338","author":"Spano","year":"2012","journal-title":"Science"},{"issue":"6","key":"R14-14-20260710","first-page":"829","article-title":"Dislocation of Rab13 and vasodilator-stimulated phosphoprotein in inactive colon epithelium in patients with Crohns disease.","volume":"24","author":"Ohira","year":"2009","journal-title":"Int J Mol 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