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Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study.
Coulter TI, Chandra A, Bacon CM, Babar J, Curtis J, Screaton N, Goodlad JR, Farmer G, Steele CL, Leahy TR, Doffinger R, Baxendale H, Bernatoniene J, Edgar JD, Longhurst HJ, Ehl S, Speckmann C, Grimbacher B, Sediva A, Milota T, Faust SN, Williams AP, Hayman G, Kucuk ZY, Hague R, French P, Brooker R, Forsyth P, Herriot R, Cancrini C, Palma P, Ariganello P, Conlon N, Feighery C, Gavin PJ, Jones A, Imai K, Ibrahim MA, Markelj G, Abinun M, Rieux-Laucat F, Latour S, Pellier I, Fischer A, Touzot F, Casanova JL, Durandy A, Burns SO, Savic S, Kumararatne DS, Moshous D, Kracker S, Vanhaesebroeck B, Okkenhaug K, Picard C, Nejentsev S, Condliffe AM, Cant AJ. Coulter TI, et al. Among authors: faust sn. J Allergy Clin Immunol. 2017 Feb;139(2):597-606.e4. doi: 10.1016/j.jaci.2016.06.021. Epub 2016 Jul 16. J Allergy Clin Immunol. 2017. PMID: 27555459 Free PMC article.
Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia.
Bolze A, Mahlaoui N, Byun M, Turner B, Trede N, Ellis SR, Abhyankar A, Itan Y, Patin E, Brebner S, Sackstein P, Puel A, Picard C, Abel L, Quintana-Murci L, Faust SN, Williams AP, Baretto R, Duddridge M, Kini U, Pollard AJ, Gaud C, Frange P, Orbach D, Emile JF, Stephan JL, Sorensen R, Plebani A, Hammarstrom L, Conley ME, Selleri L, Casanova JL. Bolze A, et al. Among authors: faust sn. Science. 2013 May 24;340(6135):976-8. doi: 10.1126/science.1234864. Epub 2013 Apr 11. Science. 2013. PMID: 23579497 Free PMC article.
Autoimmunity/inflammation in a monogenic primary immunodeficiency cohort.
Rae W, Ward D, Mattocks CJ, Gao Y, Pengelly RJ, Patel SV, Ennis S, Faust SN, Williams AP. Rae W, et al. Among authors: faust sn. Clin Transl Immunology. 2017 Sep 15;6(9):e155. doi: 10.1038/cti.2017.38. eCollection 2017 Sep. Clin Transl Immunology. 2017. PMID: 28983403 Free PMC article.
Anticytokine autoantibodies in a patient with a heterozygous NFKB2 mutation.
Ramakrishnan KA, Rae W, Barcenas-Morales G, Gao Y, Pengelly RJ, Patel SV, Kumararatne DS, Ennis S, Döffinger R, Faust SN, Williams AP. Ramakrishnan KA, et al. Among authors: faust sn. J Allergy Clin Immunol. 2018 Apr;141(4):1479-1482.e6. doi: 10.1016/j.jaci.2017.11.014. Epub 2017 Dec 7. J Allergy Clin Immunol. 2018. PMID: 29225085 No abstract available.
Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry.
Maccari ME, Abolhassani H, Aghamohammadi A, Aiuti A, Aleinikova O, Bangs C, Baris S, Barzaghi F, Baxendale H, Buckland M, Burns SO, Cancrini C, Cant A, Cathébras P, Cavazzana M, Chandra A, Conti F, Coulter T, Devlin LA, Edgar JDM, Faust S, Fischer A, Garcia-Prat M, Hammarström L, Heeg M, Jolles S, Karakoc-Aydiner E, Kindle G, Kiykim A, Kumararatne D, Grimbacher B, Longhurst H, Mahlaoui N, Milota T, Moreira F, Moshous D, Mukhina A, Neth O, Neven B, Nieters A, Olbrich P, Ozen A, Pachlopnik Schmid J, Picard C, Prader S, Rae W, Reichenbach J, Rusch S, Savic S, Scarselli A, Scheible R, Sediva A, Sharapova SO, Shcherbina A, Slatter M, Soler-Palacin P, Stanislas A, Suarez F, Tucci F, Uhlmann A, van Montfrans J, Warnatz K, Williams AP, Wood P, Kracker S, Condliffe AM, Ehl S. Maccari ME, et al. Front Immunol. 2018 Mar 16;9:543. doi: 10.3389/fimmu.2018.00543. eCollection 2018. Front Immunol. 2018. PMID: 29599784 Free PMC article.
Current Transition Practice for Primary Immunodeficiencies and Autoinflammatory Diseases in Europe: a RITA-ERN Survey.
Israni M, Nicholson B, Mahlaoui N, Obici L, Rossi-Semerano L, Lachmann H, Hayward G, Avramovič MZ, Guffroy A, Dalm V, Rimmer R, Solis L, Villar C, Gennery AR, Skeffington S, Nordin J, Warnatz K, Korganow AS, Antón J, Cattalini M, Amin T, Berg S, Soler-Palacin P, Burns SO, Campbell M; RITA-ERN Transition Working Group Consortium. Israni M, et al. J Clin Immunol. 2023 Jan;43(1):206-216. doi: 10.1007/s10875-022-01345-y. Epub 2022 Oct 12. J Clin Immunol. 2023. PMID: 36222999 Free PMC article.
274 results