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Naslov:Identification of critical transcriptomic signaling pathways in patients with H syndrome and Rosai-Dorfman disease
Avtorji:ID Lara-Reyna, Samuel (Avtor)
ID Poulter, James A. (Avtor)
ID Vasconcelos, Elton J.R. (Avtor)
ID Kačar, Mark, Klinika Golnik (Avtor)
ID McDermott, Michael F. (Avtor)
ID Tooze, Reuben (Avtor)
ID Doffinger, Rainer (Avtor)
ID Savic, Sinisa (Avtor)
Datoteke:.pdf PDF - Predstavitvena datoteka, prenos (7,43 MB)
MD5: E580FDAD89C73040847595FF423EDCF3
 
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
Status publikacije:Objavljeno
Verzija publikacije:Objavljena publikacija
Kraj izida:Nizozemska
Založnik:Springer Nature
Leto izida:2021
Št. strani:str. 441-457
Številčenje:Vol. 41, iss. 2
PID:20.500.12556/DiRROS-13870 Novo okno
UDK:577.2
ISSN pri članku:1573-2592
DOI:10.1007/s10875-020-00932-1 Novo okno
COBISS.SI-ID:57920771 Novo okno
Avtorske pravice:© 2020, The Author(s)
Opomba:Nasl. z nasl. zaslona; Soavtor iz Slovenije: Mark Kačar; Opis vira z dne 31. 3. 2021;
Datum objave v DiRROS:08.04.2021
Število ogledov:1750
Število prenosov:804
Metapodatki:XML DC-XML DC-RDF
:
LARA-REYNA, Samuel, POULTER, James A., VASCONCELOS, Elton J.R., KAČAR, Mark, MCDERMOTT, Michael F., TOOZE, Reuben, DOFFINGER, Rainer in SAVIC, Sinisa, 2021, Identification of critical transcriptomic signaling pathways in patients with H syndrome and Rosai-Dorfman disease. Journal of clinical immunology [na spletu]. 2021. Vol. 41, no. 2, p. 441–457. [Dostopano 30 marec 2025]. DOI 10.1007/s10875-020-00932-1. Pridobljeno s: https://dirros.openscience.si/IzpisGradiva.php?lang=slv&id=13870
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Gradivo je del revije

Naslov:Journal of clinical immunology
Skrajšan naslov:J. clin. immunol.
Založnik:Kluwer
ISSN:1573-2592
COBISS.SI-ID:513180441 Novo okno

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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Jezik:Ni določen
Ključne besede:interferon gama, sindrom H, sistemska avtovnetna bolezen


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