Výsledky vyhledávání - "John David Moore Edgar"

Unexpected combination: DiGeorge syndrome and myeloperoxidase deficiency

Autor: Simona Abraitytė, Elisabeth Kotsi, John David Moore Edgar, Lisa Anne Devlin

Publikováno v: BMJ Case Rep

We report a case of a 3-year-old boy who presented with recurrent bacterial and fungal infections and a known diagnosis of partial DiGeorge (22q11.2 deletion) syndrome. The nature and severity of his infections were more than normally expected in par

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9a36fc13a9b618070bed190a78badeb
https://doi.org/10.1136/bcr-2019-232741

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The European Society for Immunodeficiencies (ESID) registry 2014

Autor: Evangelia Farmaki, Peter Ciznar, Markus G Seidel, Ravishankar Sargur, Janine Reichenbach, Silvia SÁNCHEZ-RAMÓN, Asbjørg Stray-Pedersen, Isabella Quinti, Nizar MAHLAOUI, Mikael Sundin, Stephan Ehl, Elisabeth Förster-Waldl, Laia Alsina, John David Moore Edgar, Claudio Pignata, Sara sebnem Kilic, Mónica Martínez Gallo, Leif G. Hanitsch, Christof Specker

Publikováno v: Clinical & Experimental Immunology. 178:18-20

The current European Society for Immunodeficiencies (ESID) registry was established 10 years ago in 2004, when the system was moved from a paper-based to an online system. The purpose of the registry is to collect data on European patients with prima

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::98b73f3c84ddc1a4d4f7270bba09a984
https://doi.org/10.1111/cei.12496

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Interleukin 6 blockade for hyperimmunoglobulin D and periodic fever syndrome

Autor: Lisa Devlin, John David Moore Edgar, Hiba M. Shendi

Publikováno v: Journal of clinical rheumatology : practical reports on rheumaticmusculoskeletal diseases. 20(2)

Hyperimmunoglobulin D and periodic fever syndrome (HIDS) is a rare, autoinflammatory condition caused by mutations in the mevalonate kinase gene. There is no standard treatment for HIDS, and randomized controlled trials are lacking. Corticosteroids,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::265da504a70e31a8def04c4ede4e5143
https://pubmed.ncbi.nlm.nih.gov/24561416

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