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Impaired respiratory burst contributes to infections in PKCδ-deficient patients.
Neehus AL, Moriya K, Nieto-Patlán A, Le Voyer T, Lévy R, Özen A, Karakoc-Aydiner E, Baris S, Yildiran A, Altundag E, Roynard M, Haake K, Migaud M, Dorgham K, Gorochov G, Abel L, Lachmann N, Dogu F, Haskologlu S, İnce E, El-Benna J, Uzel G, Kiykim A, Boztug K, Roderick MR, Shahrooei M, Brogan PA, Abolhassani H, Hancioglu G, Parvaneh N, Belot A, Ikinciogullari A, Casanova JL, Puel A, Bustamante J. Neehus AL, et al. Among authors: brogan pa. J Exp Med. 2021 Sep 6;218(9):e20210501. doi: 10.1084/jem.20210501. Epub 2021 Jul 15. J Exp Med. 2021. PMID: 34264265 Free PMC article.
Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene WDR1.
Standing AS, Malinova D, Hong Y, Record J, Moulding D, Blundell MP, Nowak K, Jones H, Omoyinmi E, Gilmour KC, Medlar A, Stanescu H, Kleta R, Anderson G, Nanthapisal S, Gomes SM, Klein N, Eleftheriou D, Thrasher AJ, Brogan PA. Standing AS, et al. Among authors: brogan pa. J Exp Med. 2017 Jan;214(1):59-71. doi: 10.1084/jem.20161228. Epub 2016 Dec 19. J Exp Med. 2017. PMID: 27994071 Free PMC article.
INSAID Variant Classification and Eurofever Criteria Guide Optimal Treatment Strategy in Patients with TRAPS: Data from the Eurofever Registry.
Papa R, Lane T, Minden K, Touitou I, Cantarini L, Cattalini M, Obici L, Jansson AF, Belot A, Frenkel J, Anton J, Wolska-Kusnierz B, Berendes R, Remesal A, Jelusic M, Hoppenreijs E, Espada G, Nikishina I, Maggio MC, Bovis F, Masini M, Youngstein T, Rezk T, Papadopoulou C, Brogan PA, Hawkins PN, Woo P, Ruperto N, Gattorno M, Lachmann HJ; Pediatric Rheumatology International Trials Organization (PRINTO), the EUROTRAPS, and the Eurofever Project. Papa R, et al. Among authors: brogan pa. J Allergy Clin Immunol Pract. 2021 Feb;9(2):783-791.e4. doi: 10.1016/j.jaip.2020.10.053. Epub 2020 Nov 9. J Allergy Clin Immunol Pract. 2021. PMID: 33181346
Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity.
Haimel M, Pazmandi J, Heredia RJ, Dmytrus J, Bal SK, Zoghi S, van Daele P, Briggs TA, Wouters C, Bader-Meunier B, Aeschlimann FA, Caorsi R, Eleftheriou D, Hoppenreijs E, Salzer E, Bakhtiar S, Derfalvi B, Saettini F, Kusters MAA, Elfeky R, Trück J, Rivière JG, van der Burg M, Gattorno M, Seidel MG, Burns S, Warnatz K, Hauck F, Brogan P, Gilmour KC, Schuetz C, Simon A, Bock C, Hambleton S, de Vries E, Robinson PN, van Gijn M, Boztug K. Haimel M, et al. J Allergy Clin Immunol. 2022 Jan;149(1):369-378. doi: 10.1016/j.jaci.2021.04.033. Epub 2021 May 12. J Allergy Clin Immunol. 2022. PMID: 33991581 Free PMC article.
Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes.
De Benedetti F, Gattorno M, Anton J, Ben-Chetrit E, Frenkel J, Hoffman HM, Koné-Paut I, Lachmann HJ, Ozen S, Simon A, Zeft A, Calvo Penades I, Moutschen M, Quartier P, Kasapcopur O, Shcherbina A, Hofer M, Hashkes PJ, Van der Hilst J, Hara R, Bujan-Rivas S, Constantin T, Gul A, Livneh A, Brogan P, Cattalini M, Obici L, Lheritier K, Speziale A, Junge G. De Benedetti F, et al. N Engl J Med. 2018 May 17;378(20):1908-1919. doi: 10.1056/NEJMoa1706314. N Engl J Med. 2018. PMID: 29768139 Free article. Clinical Trial.
213 results