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Approximately 90% of cases are due to biallelic mutations in the Shwachman\u2013Bodian\u2013Diamond (<jats:italic>SBDS<\/jats:italic>) gene. Additional phenotypic features variably associated with SDS include skeletal, neurologic, hepatic, cardiac, endocrine, and dental abnormalities. We report five subjects with SDS who developed a range of inflammatory manifestations. Three patients developed inflammatory eye conditions. Single cases of juvenile idiopathic arthritis, chronic recurrent multifocal osteomyelitis, and scleroderma were also noted. Clinical presentation and treatment responses are described. Proteomic analysis revealed increased inflammatory signatures in SDS subjects as compared to controls. Treatment of inflammatory manifestations in patients with SDS may be complicated by potential myelosuppressive toxicities of anti\u2010rheumatic medications. Further research is needed to better understand the potential link between inflammatory disorders and SDS to inform effective treatment strategies.<\/jats:p>","DOI":"10.1002\/ajmg.a.61593","type":"journal-article","created":{"date-parts":[[2020,4,15]],"date-time":"2020-04-15T14:35:06Z","timestamp":1586961306000},"page":"1754-1760","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Inflammatory manifestations in patients with Shwachman\u2013Diamond syndrome: A novel phenotype"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6345-9255","authenticated-orcid":false,"given":"Elissa","family":"Furutani","sequence":"first","affiliation":[{"name":"Dana\u2010Farber and Boston Children's Cancer and Blood Disorders Center  Boston Massachusetts USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ankoor 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