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Naslov:Identification of critical transcriptomic signaling pathways in patients with H syndrome and Rosai-Dorfman disease
Avtorji:Lara-Reyna, Samuel (Avtor)
Poulter, James A. (Avtor)
Vasconcelos, Elton J.R. (Avtor)
Kačar, Mark (Avtor)
McDermott, Michael F. (Avtor)
Tooze, Reuben (Avtor)
Doffinger, Rainer (Avtor)
Savic, Sinisa (Avtor)
Jezik:Angleški jezik
Tipologija:1.01 - Izvirni znanstveni članek
Organizacija:Logo UKPBAG - Univerzitetna klinika za pljučne bolezni in alergijo Golnik
Povzetek:Biallelic mutations in SLC29A3 cause histiocytosis-lymphadenopathy plus syndrome, also known as H syndrome (HS). HS is a complex disorder, with ~ 25% of patients developing autoinflammatory complications consisting of unexplained fevers, persistently elevated inflammatory markers, and unusual lymphadenopathies, with infiltrating CD68+, S100+, and CD1a[minus] histiocytes, resembling the immunophenotype found in Rosai-Dorfman disease (RDD). 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. NINL) and chronic immune activation (e.g. B2M). The transcriptomic and cytokine profiles of HS patients were comparable to patients with SAID with high levels of TNF. SERPINA1 gene expression was found to be upregulated in all patients studied. Moreover, higher levels of IFN[gamma] 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 "type I IFN," "IFN[gamma] signaling pathway," and "immune responses" 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. In conclusion, monocytes and macrophages from both HS patients showed transcriptomic profiles similar to SAIDs and also uniquely upregulated IFN[gamma] signature. These findings may help find better therapeutic options for this rare disorder.
Ključne besede:interferon-gamma, H syndrome, systemic autoinflammatory disease
Leto izida:2021
Založnik:Springer Nature
Izvor:Nizozemska
UDK:577.2
ISSN pri članku:1573-2592
COBISS_ID:57920771 Povezava se odpre v novem oknu
DOI:10.1007/s10875-020-00932-1 Povezava se odpre v novem oknu
Opombe:Nasl. z nasl. zaslona; Soavtor iz Slovenije: Mark Kačar; Opis vira z dne 31. 3. 2021;
Število ogledov:361
Število prenosov:154
Datoteke:.pdf PDF - Predstavitvena datoteka, prenos (7,43 MB)
 
Nadgradivo:J. clin. immunol.
Kluwer
 
Metapodatki:XML RDF-CHPDL DC-XML DC-RDF
Avtorske pravice:© 2020, The Author(s)
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Licence

Licenca:CC BY 4.0, Creative Commons Priznanje avtorstva 4.0 Mednarodna
Povezava:http://creativecommons.org/licenses/by/4.0/deed.sl
Opis:To je standardna licenca Creative Commons, ki daje uporabnikom največ možnosti za nadaljnjo uporabo dela, pri čemer morajo navesti avtorja.
Začetek licenciranja:07.12.2020

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