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Year Number of Results
2017 1
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2019 5
2020 3
2021 3
2022 4
2023 11
2024 0

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24 results

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Page 1
Case Report: ISG15 deficiency caused by novel variants in two families and effective treatment with Janus kinase inhibition.
Burleigh A, Moraitis E, Al Masroori E, Al-Abadi E, Hong Y, Omoyinmi E, Titheradge H, Stals K, Jones WD, Gait A, Jayarajan V, Di WL, Sebire N, Solman L, Ogboli M, Welch SB, Sudarsanam A, Wacogne I, Price-Kuehne F, Jensen B, Brogan PA, Eleftheriou D. Burleigh A, et al. Front Immunol. 2023 Dec 5;14:1287258. doi: 10.3389/fimmu.2023.1287258. eCollection 2023. Front Immunol. 2023. PMID: 38115997 Free PMC article.
Curation and expansion of the Human Phenotype Ontology for systemic autoinflammatory diseases improves phenotype-driven disease-matching.
Maassen W, Legger G, Kul Cinar O, van Daele P, Gattorno M, Bader-Meunier B, Wouters C, Briggs T, Johansson L, van der Velde J, Swertz M, Omoyinmi E, Hoppenreijs E, Belot A, Eleftheriou D, Caorsi R, Aeschlimann F, Boursier G, Brogan P, Haimel M, van Gijn M. Maassen W, et al. Front Immunol. 2023 Sep 12;14:1215869. doi: 10.3389/fimmu.2023.1215869. eCollection 2023. Front Immunol. 2023. PMID: 37781402 Free PMC article.
Neuroinflammation, autoinflammation, splenomegaly and anemia caused by bi-allelic mutations in IRAK4.
Cooray S, Price-Kuehne F, Hong Y, Omoyinmi E, Burleigh A, Gilmour KC, Ahmad B, Choi S, Bahar MW, Torpiano P, Gagunashvili A, Jensen B, Bellos E, Sancho-Shimizu V, Herberg JA, Mankad K, Kumar A, Kaliakatsos M, Worth AJJ, Eleftheriou D, Whittaker E, Brogan PA. Cooray S, et al. Front Immunol. 2023 Sep 6;14:1231749. doi: 10.3389/fimmu.2023.1231749. eCollection 2023. Front Immunol. 2023. PMID: 37744344 Free PMC article.
Application and performance of disease activity indices proposed for patients with systemic sclerosis in an international cohort of patients with juvenile systemic sclerosis.
Klotsche J, Torok KS, Kasapcopur O, Adrovic A, Terreri MT, Sakamoto AP, Katsicas M, Sztajnbok F, Marrani E, Sifuentes-Giraldo A, Stanevicha V, Anton J, Feldmann B, Kostik M, Nemcova D, Santos MJ, Appenzeller S, Avcin T, Battagliotti C, Berntson L, Bica B, Brunner J, Eleftheriou D, Harel L, Horneff G, Kallinich T, Minden K, Nielsen S, Patwardhan A, Helmus N, Foeldvari I. Klotsche J, et al. J Scleroderma Relat Disord. 2023 Oct;8(3):183-191. doi: 10.1177/23971983231164700. Epub 2023 Apr 10. J Scleroderma Relat Disord. 2023. PMID: 37744052
Case report: marfan syndrome (MFS) mimicking cutaneous vasculitis.
Price-Kuehne F, Omoyinmi E, Younes M, Edwards M, Eleftheriou D, Brogan P. Price-Kuehne F, et al. Front Pediatr. 2023 Jun 15;11:1205255. doi: 10.3389/fped.2023.1205255. eCollection 2023. Front Pediatr. 2023. PMID: 37397156 Free PMC article.
Autosomal Dominant STAT6 Gain of Function Causes Severe Atopy Associated with Lymphoma.
Minskaia E, Maimaris J, Jenkins P, Albuquerque AS, Hong Y, Eleftheriou D, Gilmour KC, Grace R, Moreira F, Grimbacher B; NIHR Bioresource-Rare Diseases Consortium; Morris EC, Burns SO. Minskaia E, et al. J Clin Immunol. 2023 Oct;43(7):1611-1622. doi: 10.1007/s10875-023-01530-7. Epub 2023 Jun 14. J Clin Immunol. 2023. PMID: 37316763 Free PMC article.
Gender differences in juvenile systemic sclerosis patients: Results from the international juvenile scleroderma inception cohort.
Foeldvari I, Klotsche J, Kasapcopur O, Adrovic A, Terreri MT, Sakamoto AP, Stanevicha V, Anton J, Feldman BM, Sztajnbok F, Khubchandani R, Alexeeva E, Katsicas M, Sawhney S, Smith V, Appenzeller S, Avcin T, Kostik M, Lehman T, Marrani E, Schonenberg-Meinema D, Sifuentes-Giraldo WA, Vasquez-Canizares N, Janarthanan M, Moll M, Nemcova D, Patwardhan A, Santos MJ, Battagliotti C, Berntson L, Bica B, Brunner J, Cimaz R, Costa-Reis P, Eleftheriou D, Harel L, Horneff G, Johnson SR, Kaiser D, Kallinich T, Lazarevic D, Minden K, Nielsen S, Nuruzzaman F, Opsahl Hetlevik S, Uziel Y, Helmus N, Torok KS. Foeldvari I, et al. J Scleroderma Relat Disord. 2023 Jun;8(2):120-130. doi: 10.1177/23971983221143244. Epub 2022 Dec 19. J Scleroderma Relat Disord. 2023. PMID: 37287945
Efficacy and safety of emapalumab in macrophage activation syndrome.
De Benedetti F, Grom AA, Brogan PA, Bracaglia C, Pardeo M, Marucci G, Eleftheriou D, Papadopoulou C, Schulert GS, Quartier P, Antón J, Laveille C, Frederiksen R, Asnaghi V, Ballabio M, Jacqmin P, de Min C. De Benedetti F, et al. Ann Rheum Dis. 2023 Jun;82(6):857-865. doi: 10.1136/ard-2022-223739. Epub 2023 Mar 31. Ann Rheum Dis. 2023. PMID: 37001971 Free PMC article.
24 results