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143 results

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Page 1
Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunity.
Maccari ME, Wolkewitz M, Schwab C, Lorenzini T, Leiding JW, Aladjdi N, Abolhassani H, Abou-Chahla W, Aiuti A, Azarnoush S, Baris S, Barlogis V, Barzaghi F, Baumann U, Bloomfield M, Bohynikova N, Bodet D, Boutboul D, Bucciol G, Buckland MS, Burns SO, Cancrini C, Cathébras P, Cavazzana M, Cheminant M, Chinello M, Ciznar P, Coulter TI, D'Aveni M, Ekwall O, Eric Z, Eren E, Fasth A, Frange P, Fournier B, Garcia-Prat M, Gardembas M, Geier C, Ghosh S, Goda V, Hammarström L, Hauck F, Heeg M, Heropolitanska-Pliszka E, Hilfanova A, Jolles S, Karakoc-Aydiner E, Kindle GR, Kiykim A, Klemann C, Koletsi P, Koltan S, Kondratenko I, Körholz J, Krüger R, Jeziorski E, Levy R, Le Guenno G, Lefevre G, Lougaris V, Marzollo A, Mahlaoui N, Malphettes M, Meinhardt A, Merlin E, Meyts I, Milota T, Moreira F, Moshous D, Mukhina A, Neth O, Neubert J, Neven B, Nieters A, Nove-Josserand R, Oksenhendler E, Ozen A, Olbrich P, Perlat A, Pac M, Schmid JP, Pacillo L, Parra-Martinez A, Paschenko O, Pellier I, Sefer AP, Plebani A, Plantaz D, Prader S, Raffray L, Ritterbusch H, Riviere JG, Rivalta B, Rusch S, Sakovich I, Savic S, Scheible R, Schleinitz N, Schuetz C, Schulz A, Sediva A, Semeraro M, Sharapova SO,… See abstract for full author list ➔ Maccari ME, et al. Among authors: merlin e. J Allergy Clin Immunol. 2023 Oct;152(4):984-996.e10. doi: 10.1016/j.jaci.2023.06.015. Epub 2023 Jun 28. J Allergy Clin Immunol. 2023. PMID: 37390899 Free article.
Cutaneous manifestations of monogenic auto-inflammatory diseases: An international cohort study from the Juvenile Inflammatory Rheumatism cohort.
Monfort JB, Deshayes S, Dusser P, Bourguiba R, Savey L, Vinit C, Koné-Paut I, Amaryan G, Theodoropoulou K, Guedri R, Pachlopnik J, Belot A, Melki I, Perveen Maldar N; JIR cohort investigators; Hentgen V, Georgin-Lavialle S. Monfort JB, et al. J Am Acad Dermatol. 2022 Dec;87(6):1391-1394. doi: 10.1016/j.jaad.2022.08.015. Epub 2022 Aug 12. J Am Acad Dermatol. 2022. PMID: 35970384 No abstract available.
Functional diversity of NLRP3 gain-of-function mutants associated with CAPS autoinflammation.
Cosson C, Riou R, Patoli D, Niu T, Rey A, Groslambert M, De Rosny C, Chatre E, Allatif O, Henry T, Venet F, Milhavet F, Boursier G, Belot A, Jamilloux Y, Merlin E, Duquesne A, Grateau G, Savey L, Jacques Maria AT, Pagnier A, Poutrel S, Lambotte O, Mallebranche C, Ardois S, Richer O, Lemelle I, Rieux-Laucat F, Bader-Meunier B, Amoura Z, Melki I, Cuisset L, Touitou I, Geyer M, Georgin-Lavialle S, Py BF. Cosson C, et al. Among authors: merlin e. J Exp Med. 2024 May 6;221(5):e20231200. doi: 10.1084/jem.20231200. Epub 2024 Mar 26. J Exp Med. 2024. PMID: 38530241 Free PMC article.
Individual and environmental determinants associated with longer times to access pediatric rheumatology centers for patients with juvenile idiopathic arthritis, a JIR cohort study.
Chausset A, Lambert C, Belot A, Merlin E, Cannizzaro E, Kone-Paut I, Ballot C, Devauchelle V, Poignant S, Carlomagno R, Lohse A, Barbier C, Despert V, Carbasse A, Sparsa L, Adank E, Vanoni F, Reumaux H, Pillet P, Kaiser D, Hofer M, Freychet C, Schott AM. Chausset A, et al. Among authors: merlin e. Pediatr Rheumatol Online J. 2023 Mar 14;21(1):24. doi: 10.1186/s12969-023-00809-8. Pediatr Rheumatol Online J. 2023. PMID: 36918902 Free PMC article.
Disease evolution in systemic juvenile idiopathic arthritis: an international, observational cohort study through JIRcohort.
Wallimann M, Bouayed K, Cannizzaro E, Kaiser D, Belot A, Merlin E, Poignant S, Wouters C, Hofer F, Saurenmann T, Koryllou A, Carlomagno R, Mejbri M, Hofer M, Theodoropoulou K. Wallimann M, et al. Among authors: merlin e. Pediatr Rheumatol Online J. 2023 Sep 7;21(1):96. doi: 10.1186/s12969-023-00886-9. Pediatr Rheumatol Online J. 2023. PMID: 37679749 Free PMC article.
Survey of adolescents' needs and parents' views on sexual health in juvenile idiopathic arthritis.
Savel C, Chausset A, Berland P, Guiguet-Auclair C, Cabane L, Fautrel B, Gaudin P, Guillot P, Hayem G, Lafarge D, Merlin E, Pezière N, Sordet C, Trope S, Tournadre A, Malochet S, Cohen JD. Savel C, et al. Among authors: merlin e. Pediatr Rheumatol Online J. 2023 Sep 5;21(1):95. doi: 10.1186/s12969-023-00884-x. Pediatr Rheumatol Online J. 2023. PMID: 37670340 Free PMC article.
Pediatric ANCA vasculitis: clinical presentation, treatment, and outcomes in a French retrospective study.
Mahi SL, Bahram S, Harambat J, Allard L, Merlin E, Belot A, Ranchin B, Tenenbaum J, Magnavacca M, Haumesser L, Allain-Launay E, Pietrement C, Flodrops H, Ruin M, Dossier C, Decramer S, Ballot-Schmitt C, Boyer OG, Seugé L, Ulinski T, Zaloszyc A. Mahi SL, et al. Among authors: merlin e. Pediatr Nephrol. 2023 Aug;38(8):2649-2658. doi: 10.1007/s00467-022-05855-0. Epub 2023 Jan 9. Pediatr Nephrol. 2023. PMID: 36622443
143 results