Publications:

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Autoinflammatory Manifestations In Adult Patients.

Clinical And Experimental Immunology

Rodolfi, Stefano S; Nasone, Irene I; Folci, Marco M; Selmi, Carlo C; Brunetta, Enrico E

Publication Date: 2022-11-05

Variant appearance in text: AID: R92Q

PubMed Link: 36334040

Variant Present in the following documents:

• Main text
• uxac098.pdf

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Central nervous system manifestations of monogenic autoinflammatory disorders and the neurotropic features of SARS-CoV-2: Drawing the parallels.

Frontiers In Pediatrics

Renson, Thomas T; Hamiwka, Lorraine L; Benseler, Susanne S

Publication Date: 2022

Variant appearance in text: AID: R92Q

PubMed Link: 36034552

Variant Present in the following documents:

• Main text
• fped-10-931179.pdf

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Variant in the PLCG2 Gene May Cause a Phenotypic Overlap of APLAID/PLAID: Case Series and Literature Review.

Journal Of Clinical Medicine

Welzel, Tatjana T; Oefelein, Lea L; Holzer, Ursula U; Müller, Amelie A; Menden, Benita B; Haack, Tobias B TB; Groβ, Miriam M; Kuemmerle-Deschner, Jasmin B JB

Publication Date: 2022-07-27

Variant appearance in text: AID: R92Q

PubMed Link: 35955991

Variant Present in the following documents:

• Main text
• jcm-11-04369.pdf

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Hereditary Systemic Autoinflammatory Diseases: Therapeutic Stratification.

Frontiers In Pediatrics

Kul Cinar, Ovgu O; Putland, Amber A; Wynne, Karen K; Eleftheriou, Despina D; Brogan, Paul A PA

Publication Date: 2022

Variant appearance in text: AID: R92Q

PubMed Link: 35573950

Variant Present in the following documents:

• Main text
• fped-10-867679.pdf

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Author Correction: Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications

Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R

Publication Date: 2022-05-10

Variant appearance in text: AICDA: R92Q

PubMed Link: 35538087

Variant Present in the following documents:

• 41467_2022_30446_MOESM1_ESM.xlsx, sheet 3

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Integrative molecular and clinical profiling of acral melanoma links focal amplification of 22q11.21 to metastasis.

Nature Communications

Farshidfar, Farshad F; Rhrissorrakrai, Kahn K; Levovitz, Chaya C; Peng, Cong C; Knight, James J; Bacchiocchi, Antonella A; Su, Juan J; Yin, Mingzhu M; Sznol, Mario M; Ariyan, Stephan S; Clune, James J; Olino, Kelly K; Parida, Laxmi L; Nikolaus, Joerg J; Zhang, Meiling M; Zhao, Shuang S; Wang, Yan Y; Huang, Gang G; Wan, Miaojian M; Li, Xianan X; Cao, Jian J; Yan, Qin Q; Chen, Xiang X; Newman, Aaron M AM; Halaban, Ruth R

Publication Date: 2022-02-23

Variant appearance in text: AICDA: R92Q

PubMed Link: 35197475

Variant Present in the following documents:

• 41467_2022_28566_MOESM5_ESM.xlsx, sheet 3

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Real-Life Indications of Interleukin-1 Blocking Agents in Hereditary Recurrent Fevers: Data From the JIRcohort and a Literature Review.

Frontiers In Immunology

Vinit, Caroline C; Georgin-Lavialle, Sophie S; Theodoropoulou, Aikaterini A; Barbier, Catherine C; Belot, Alexandre A; Mejbri, Manel M; Pillet, Pascal P; Pachlopnik, Jana J; Poignant, Sylvaine S; Rebelle, Charlotte C; Woerner, Andreas A; Koné-Paut, Isabelle I; Hentgen, Véronique V

Publication Date: 2021

Variant appearance in text: AID: R92Q

PubMed Link: 34858402

Variant Present in the following documents:

• fimmu-12-744780.pdf

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Monogenic Autoinflammatory Diseases: State of the Art and Future Perspectives.

International Journal Of Molecular Sciences

Di Donato, Giulia G; d'Angelo, Debora Mariarita DM; Breda, Luciana L; Chiarelli, Francesco F

Publication Date: 2021-06-14

Variant appearance in text: AID: R92Q

PubMed Link: 34198614

Variant Present in the following documents:

• Main text

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Next Generation Sequencing Based Multiplex Long-Range PCR for Routine Genotyping of Autoinflammatory Disorders.

Frontiers In Immunology

Guzel, Ferhat F; Romano, Micol M; Keles, Erdi E; Piskin, David D; Ozen, Seza S; Poyrazoglu, Hakan H; Kasapcopur, Ozgur O; Demirkaya, Erkan E

Publication Date: 2021

Variant appearance in text: AID: R92Q

PubMed Link: 34177904

Variant Present in the following documents:

• Main text
• fimmu-12-666273.pdf

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Syndrome of Undifferentiated Recurrent Fever (SURF): An Emerging Group of Autoinflammatory Recurrent Fevers.

Journal Of Clinical Medicine

Papa, Riccardo R; Penco, Federica F; Volpi, Stefano S; Sutera, Diana D; Caorsi, Roberta R; Gattorno, Marco M

Publication Date: 2021-05-03

Variant appearance in text: AID: R92Q

PubMed Link: 34063710

Variant Present in the following documents:

• Main text
• jcm-10-01963.pdf

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Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS) with a New Pathogenic Variant in TNFRSF1A Gene in a Family of the Adult Male with Renal AA Amyloidosis-Diagnostic and Therapeutic Challenge for Clinicians.

Journal Of Clinical Medicine

Zegarska, Jolanta J; Wiesik-Szewczyk, Ewa E; Hryniewiecka, Ewa E; Wolska-Kusnierz, Beata B; Soldacki, Dariusz D; Kacprzak, Magdalena M; Sobczynska-Tomaszewska, Agnieszka A; Czerska, Kamila K; Siedlecki, Pawel P; Jahnz-Rozyk, Karina K; Bernatowska, Ewa E; Zagozdzon, Radoslaw R; Paczek, Leszek L

Publication Date: 2021-01-26

Variant appearance in text: AID: R92Q

PubMed Link: 33530412

Variant Present in the following documents:

• Main text
• jcm-10-00465.pdf

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Clinical and psychological phenomenology of pain in autoinflammatory diseases.

Bmc Rheumatology

Mulazzani, Elisabeth E; Zolyniak, Nicole N; Noe, Elisabeth E; Mulazzani, Matthias M; Azad, Shahnaz Christina SC; Kümpfel, Tania T; Kraft, Eduard E

Publication Date: 2020-12-18

Variant appearance in text: AID: R92Q

PubMed Link: 33334368

Variant Present in the following documents:

• Main text
• 41927_2020_Article_168.pdf

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Diagnosis and Management of a Young Girl With Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS) Linked to a Novel Mutation.

Cureus

Klinaki, Eleni E; Nezos, Adrianos A; Tzioufas, Athanasios G AG; Tsolia, Maria N MN; Maritsi, Despoina N DN

Publication Date: 2020-10-02

Variant appearance in text: AID: R92Q

PubMed Link: 33154839

Variant Present in the following documents:

• Main text
• cureus-0012-00000010766.pdf

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Periodic fever syndromes and the autoinflammatory diseases (AIDs).

Journal Of Translational Autoimmunity

Marino, Achille A; Tirelli, Francesca F; Giani, Teresa T; Cimaz, Rolando R

Publication Date: 2020

Variant appearance in text: AID: R92Q

PubMed Link: 32743516

Variant Present in the following documents:

• Main text
• main.pdf

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Neurological phenotypes in patients with NLRP3-, MEFV-, and TNFRSF1A low-penetrance variants.

Journal Of Neuroinflammation

Mulazzani, Elisabeth E; Wagner, Danny D; Havla, Joachim J; Schlüter, Miriam M; Meinl, Ingrid I; Gerdes, Lisa-Ann LA; Kümpfel, Tania T

Publication Date: 2020-06-20

Variant appearance in text: AID: R92Q

PubMed Link: 32563262

Variant Present in the following documents:

• Main text
• 12974_2020_Article_1867.pdf

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Increased Prevalence of NLRP3 Q703K Variant Among Patients With Autoinflammatory Diseases: An International Multicentric Study.

Frontiers In Immunology

Theodoropoulou, Katerina K; Wittkowski, Helmut H; Busso, Nathalie N; Von Scheven-Gête, Annette A; Moix, Isabelle I; Vanoni, Federica F; Hengten, Veronique V; Horneff, Gerd G; Haas, Johannes-Peter JP; Fischer, Nadine N; Palm-Beden, Katharina K; Berendes, Rainer R; Heubner, Georg G; Jansson, Annette A; Lainka, Elke E; Leimgruber, Annette A; Morris, Michael M; Foell, Dirk D; Hofer, Michaël M

Publication Date: 2020

Variant appearance in text: AID: R92Q

PubMed Link: 32477355

Variant Present in the following documents:

• Main text
• fimmu-11-00877.pdf

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Autoinflammatory Diseases in Childhood

Balkan Medical Journal

Yıldız, Mehmet M; Haşlak, Fatih F; Adrovic, Amra A; Barut, Kenan K; Kasapçopur, Özgür Ö

Publication Date: 2020-08-11

Variant appearance in text: AID: R92Q

PubMed Link: 32338845

Variant Present in the following documents:

• BMJ-37-236.pdf

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Consensus protocols for the diagnosis and management of the hereditary autoinflammatory syndromes CAPS, TRAPS and MKD/HIDS: a German PRO-KIND initiative.

Pediatric Rheumatology Online Journal

Hansmann, Sandra S; Lainka, Elke E; Horneff, Gerd G; Holzinger, Dirk D; Rieber, Nikolaus N; Jansson, Annette F AF; Rösen-Wolff, Angela A; Erbis, Gabi G; Prelog, Martina M; Brunner, Juergen J; Benseler, Susanne M SM; Kuemmerle-Deschner, Jasmin B JB

Publication Date: 2020-02-17

Variant appearance in text: AID: R92Q

PubMed Link: 32066461

Variant Present in the following documents:

• 12969_2020_Article_409.pdf

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Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis.

Plos One

Omoyinmi, Ebun E; Standing, Ariane A; Keylock, Annette A; Price-Kuehne, Fiona F; Melo Gomes, Sonia S; Rowczenio, Dorota D; Nanthapisal, Sira S; Cullup, Thomas T; Nyanhete, Rodney R; Ashton, Emma E; Murphy, Claire C; Clarke, Megan M; Ahlfors, Helena H; Jenkins, Lucy L; Gilmour, Kimberly K; Eleftheriou, Despina D; Lachmann, Helen J HJ; Hawkins, Philip N PN; Klein, Nigel N; Brogan, Paul A PA

Publication Date: 2017

Variant appearance in text: AID: R92Q

PubMed Link: 28750028

Variant Present in the following documents:

• Main text
• pone.0181874.pdf

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Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.

Frontiers In Immunology

Martorana, Davide D; Bonatti, Francesco F; Mozzoni, Paola P; Vaglio, Augusto A; Percesepe, Antonio A

Publication Date: 2017

Variant appearance in text: AID: R92Q

PubMed Link: 28421071

Variant Present in the following documents:

• Main text
• fimmu-08-00344.pdf

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Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports

Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA

Publication Date: 2016-04-26

Variant appearance in text: AICDA: R92Q

PubMed Link: 27149842

Variant Present in the following documents:

• mmc2.xlsx, sheet 4

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Clinical and Genetic Features of Korean Patients with Recurrent Fever and Multi-System Inflammation without Infectious or Autoimmune Evidence.

Journal Of Korean Medical Science

Yang, Ji Ae JA; Choi, Ji Yong JY; Kang, Eun Ha EH; Ha, You-Jung YJ; Lee, Yun Jong YJ; Song, Yeong Wook YW

Publication Date: 2016-02

Variant appearance in text: AID: R92Q

PubMed Link: 26839472

Variant Present in the following documents:

• Main text
• jkms-31-196.pdf

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The Central Role of Anti-IL-1 Blockade in the Treatment of Monogenic and Multi-Factorial Autoinflammatory Diseases.

Frontiers In Immunology

Federici, Silvia S; Martini, Alberto A; Gattorno, Marco M

Publication Date: 2013-10-31

Variant appearance in text: AID: R92Q

PubMed Link: 24198817

Variant Present in the following documents:

• Main text
• fimmu-04-00351.pdf

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From the Mediterranean to the sea of Japan: the transcontinental odyssey of autoinflammatory diseases.

Biomed Research International

Rigante, Donato D; Frediani, Bruno B; Galeazzi, Mauro M; Cantarini, Luca L

Publication Date: 2013

Variant appearance in text: AID: R92Q

PubMed Link: 23971037

Variant Present in the following documents:

• Main text
• BMRI2013-485103.pdf

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