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HS is a complex disorder, with ~\u200925% of patients developing autoinflammatory complications consisting of unexplained fevers, persistently elevated inflammatory markers, and unusual lymphadenopathies, with infiltrating CD68\n                    <jats:sup>+<\/jats:sup>\n                    , S100\n                    <jats:sup>+<\/jats:sup>\n                    , and CD1a\n                    <jats:sup>\u2212<\/jats:sup>\n                    histiocytes, resembling the immunophenotype found in Rosai-Dorfman disease (RDD)\n                    <jats:bold>.<\/jats:bold>\n                    We investigated the transcriptomic profiles of monocytes, non-activated (M0), classically activated (M1), and alternatively activated macrophages (M2) in two patients with HS, one without autoinflammatory (HS1) and one with autoinflammatory complications (HS2). RNA sequencing revealed a dysregulated transcriptomic profile in both HS patients compared to healthy controls (HC). HS2, when compared to HS1, had several differentially expressed genes, including genes associated with lymphocytic-histiocytic predominance (e.g.\n                    <jats:italic>NINL<\/jats:italic>\n                    ) and chronic immune activation (e.g.\n                    <jats:italic>B2M<\/jats:italic>\n                    ). The transcriptomic and cytokine profiles of HS patients were comparable to patients with SAID with high levels of TNF.\n                    <jats:italic>SERPINA1<\/jats:italic>\n                    gene expression was found to be upregulated in all patients studied. Moreover, higher levels of IFN\u03b3 were found in the serum of both HS patients when compared to HC. Gene ontology (GO) enrichment analysis of the DEGs in HS patients revealed the terms \u201ctype I IFN,\u201d \u201cIFN\u03b3 signaling pathway,\u201d and \u201cimmune responses\u201d as the top 3 most significant terms for monocytes. Gene expression analysis of lymph node biopsies from sporadic and H syndrome-associated RDD suggests common underlying pathological process\n                    <jats:bold>.<\/jats:bold>\n                    In conclusion, monocytes and macrophages from both HS patients showed transcriptomic profiles similar to SAIDs and also uniquely upregulated IFN\u03b3 signature. These findings may help find better therapeutic options for this rare disorder.\n                  <\/jats:p>","DOI":"10.1007\/s10875-020-00932-1","type":"journal-article","created":{"date-parts":[[2020,12,7]],"date-time":"2020-12-07T00:02:52Z","timestamp":1607299372000},"page":"441-457","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Identification of Critical Transcriptomic Signaling Pathways in Patients with H Syndrome and Rosai-Dorfman Disease"],"prefix":"10.1007","volume":"41","author":[{"given":"Samuel","family":"Lara-Reyna","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James A.","family":"Poulter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elton J.R.","family":"Vasconcelos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Kacar","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael F.","family":"McDermott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reuben","family":"Tooze","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rainer","family":"Doffinger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7910-0554","authenticated-orcid":false,"given":"Sinisa","family":"Savic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,12,7]]},"reference":[{"issue":"1","key":"932_CR1","doi-asserted-by":"publisher","first-page":"e29708","DOI":"10.1371\/journal.pone.0029708","volume":"7","author":"A Bolze","year":"2012","unstructured":"Bolze A, Abhyankar A, Grant AV, Patel B, Yadav R, Byun M, et al. 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