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Page 1
Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency.
Lévy R, Okada S, Béziat V, Moriya K, Liu C, Chai LY, Migaud M, Hauck F, Al Ali A, Cyrus C, Vatte C, Patiroglu T, Unal E, Ferneiny M, Hyakuna N, Nepesov S, Oleastro M, Ikinciogullari A, Dogu F, Asano T, Ohara O, Yun L, Della Mina E, Bronnimann D, Itan Y, Gothe F, Bustamante J, Boisson-Dupuis S, Tahuil N, Aytekin C, Salhi A, Al Muhsen S, Kobayashi M, Toubiana J, Abel L, Li X, Camcioglu Y, Celmeli F, Klein C, AlKhater SA, Casanova JL, Puel A. Lévy R, et al. Among authors: celmeli f. Proc Natl Acad Sci U S A. 2016 Dec 20;113(51):E8277-E8285. doi: 10.1073/pnas.1618300114. Epub 2016 Dec 7. Proc Natl Acad Sci U S A. 2016. PMID: 27930337 Free PMC article.
Human STAT3 variants underlie autosomal dominant hyper-IgE syndrome by negative dominance.
Asano T, Khourieh J, Zhang P, Rapaport F, Spaan AN, Li J, Lei WT, Pelham SJ, Hum D, Chrabieh M, Han JE, Guérin A, Mackie J, Gupta S, Saikia B, Baghdadi JEI, Fadil I, Bousfiha A, Habib T, Marr N, Ganeshanandan L, Peake J, Droney L, Williams A, Celmeli F, Hatipoglu N, Ozcelik T, Picard C, Abel L, Tangye SG, Boisson-Dupuis S, Zhang Q, Puel A, Béziat V, Casanova JL, Boisson B. Asano T, et al. Among authors: celmeli f. J Exp Med. 2021 Aug 2;218(8):e20202592. doi: 10.1084/jem.20202592. Epub 2021 Jun 17. J Exp Med. 2021. PMID: 34137790 Free PMC article.
Genetic Analysis of a Cohort of 275 Patients with Hyper-IgE Syndromes and/or Chronic Mucocutaneous Candidiasis.
Frede N, Rojas-Restrepo J, Caballero Garcia de Oteyza A, Buchta M, Hübscher K, Gámez-Díaz L, Proietti M, Saghafi S, Chavoshzadeh Z, Soler-Palacin P, Galal N, Adeli M, Aldave-Becerra JC, Al-Ddafari MS, Ardenyz Ö, Atkinson TP, Kut FB, Çelmeli F, Rees H, Kilic SS, Kirovski I, Klein C, Kobbe R, Korganow AS, Lilic D, Lunt P, Makwana N, Metin A, Özgür TT, Karakas AA, Seneviratne S, Sherkat R, Sousa AB, Unal E, Patiroglu T, Wahn V, von Bernuth H, Whiteford M, Doffinger R, Jouhadi Z, Grimbacher B. Frede N, et al. Among authors: celmeli f. J Clin Immunol. 2021 Nov;41(8):1804-1838. doi: 10.1007/s10875-021-01086-4. Epub 2021 Aug 14. J Clin Immunol. 2021. PMID: 34390440 Free PMC article.
Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency.
Le Voyer T, Parent AV, Liu X, Cederholm A, Gervais A, Rosain J, Nguyen T, Perez Lorenzo M, Rackaityte E, Rinchai D, Zhang P, Bizien L, Hancioglu G, Ghillani-Dalbin P, Charuel JL, Philippot Q, Gueye MS, Maglorius Renkilaraj MRL, Ogishi M, Soudée C, Migaud M, Rozenberg F, Momenilandi M, Riller Q, Imberti L, Delmonte OM, Müller G, Keller B, Orrego J, Franco Gallego WA, Rubin T, Emiroglu M, Parvaneh N, Eriksson D, Aranda-Guillen M, Berrios DI, Vong L, Katelaris CH, Mustillo P, Raedler J, Bohlen J, Bengi Celik J, Astudillo C, Winter S; NF-κB Consortium; COVID Human Genetic Effort; McLean C, Guffroy A, DeRisi JL, Yu D, Miller C, Feng Y, Guichard A, Béziat V, Bustamante J, Pan-Hammarström Q, Zhang Y, Rosen LB, Holland SM, Bosticardo M, Kenney H, Castagnoli R, Slade CA, Boztuğ K, Mahlaoui N, Latour S, Abraham RS, Lougaris V, Hauck F, Sediva A, Atschekzei F, Sogkas G, Poli MC, Slatter MA, Palterer B, Keller MD, Pinzon-Charry A, Sullivan A, Droney L, Suan D, Wong M, Kane A, Hu H, Ma C, Grombiříková H, Ciznar P, Dalal I, Aladjidi N, Hie M, Lazaro E, Franco J, Keles S, Malphettes M, Pasquet M, Maccari ME, Meinhardt A, Ikinciogullari A, Shahrooei M, Celmeli F, Frosk P, Goodnow CC, Gray … See abstract for full author list ➔ Le Voyer T, et al. Among authors: celmeli f. Nature. 2023 Nov;623(7988):803-813. doi: 10.1038/s41586-023-06717-x. Epub 2023 Nov 8. Nature. 2023. PMID: 37938781 Free PMC article.
Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye.
Erman B, Aba U, Ipsir C, Pehlivan D, Aytekin C, Cildir G, Cicek B, Bozkurt C, Tekeoglu S, Kaya M, Aydogmus C, Cipe F, Sucak G, Eltan SB, Ozen A, Barıs S, Karakoc-Aydiner E, Kıykım A, Karaatmaca B, Kose H, Uygun DFK, Celmeli F, Arikoglu T, Ozcan D, Keskin O, Arık E, Aytekin ES, Cesur M, Kucukosmanoglu E, Kılıc M, Yuksek M, Bıcakcı Z, Esenboga S, Ayvaz DÇ, Sefer AP, Guner SN, Keles S, Reisli I, Musabak U, Demirbas ND, Haskologlu S, Kilic SS, Metin A, Dogu F, Ikinciogulları A, Tezcan I. Erman B, et al. Among authors: celmeli f. J Clin Immunol. 2024 Jul 2;44(7):157. doi: 10.1007/s10875-024-01759-w. J Clin Immunol. 2024. PMID: 38954121 Free PMC article.
Inherited human RelB deficiency impairs innate and adaptive immunity to infection.
Le Voyer T, Maglorius Renkilaraj MRL, Moriya K, Pérez Lorenzo M, Nguyen T, Gao L, Rubin T, Cederholm A, Ogishi M, Arango-Franco CA, Béziat V, Lévy R, Migaud M, Rapaport F, Itan Y, Deenick EK, Cortese I, Lisco A, Boztug K, Abel L, Boisson-Dupuis S, Boisson B, Frosk P, Ma CS, Landegren N, Celmeli F, Casanova JL, Tangye SG, Puel A. Le Voyer T, et al. Among authors: celmeli f. Proc Natl Acad Sci U S A. 2024 Sep 10;121(37):e2321794121. doi: 10.1073/pnas.2321794121. Epub 2024 Sep 4. Proc Natl Acad Sci U S A. 2024. PMID: 39231201 Free PMC article.
A sensitive assay for measuring whole-blood responses to type I IFNs.
Gervais A, Le Floc'h C, Le Voyer T, Bizien L, Bohlen J, Celmeli F, Al Qureshah F, Masson C, Rosain J, Chbihi M, Lévy R, Castagnoli R, Rothenbuhler A, Jouanguy E, Zhang Q, Zhang SY, Béziat V, Bustamante J, Puel A, Bastard P, Casanova JL. Gervais A, et al. Among authors: celmeli f. Proc Natl Acad Sci U S A. 2024 Oct;121(40):e2402983121. doi: 10.1073/pnas.2402983121. Epub 2024 Sep 23. Proc Natl Acad Sci U S A. 2024. PMID: 39312669 Free PMC article.
Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome.
Leiding JW, Vogel TP, Santarlas VGJ, Mhaskar R, Smith MR, Carisey A, Vargas-Hernández A, Silva-Carmona M, Heeg M, Rensing-Ehl A, Neven B, Hadjadj J, Hambleton S, Ronan Leahy T, Meesilpavikai K, Cunningham-Rundles C, Dutmer CM, Sharapova SO, Taskinen M, Chua I, Hague R, Klemann C, Kostyuchenko L, Morio T, Thatayatikom A, Ozen A, Scherbina A, Bauer CS, Flanagan SE, Gambineri E, Giovannini-Chami L, Heimall J, Sullivan KE, Allenspach E, Romberg N, Deane SG, Prince BT, Rose MJ, Bohnsack J, Mousallem T, Jesudas R, Santos Vilela MMD, O'Sullivan M, Pachlopnik Schmid J, Průhová Š, Klocperk A, Rees M, Su H, Bahna S, Baris S, Bartnikas LM, Chang Berger A, Briggs TA, Brothers S, Bundy V, Chan AY, Chandrakasan S, Christiansen M, Cole T, Cook MC, Desai MM, Fischer U, Fulcher DA, Gallo S, Gauthier A, Gennery AR, Gonçalo Marques J, Gottrand F, Grimbacher B, Grunebaum E, Haapaniemi E, Hämäläinen S, Heiskanen K, Heiskanen-Kosma T, Hoffman HM, Gonzalez-Granado LI, Guerrerio AL, Kainulainen L, Kumar A, Lawrence MG, Levin C, Martelius T, Neth O, Olbrich P, Palma A, Patel NC, Pozos T, Preece K, Lugo Reyes SO, Russell MA, Schejter Y, Seroogy C, Sinclair J, Skevofilax E, Suan D, Suez D, Szabolcs P, Velas… See abstract for full author list ➔ Leiding JW, et al. J Allergy Clin Immunol. 2023 Apr;151(4):1081-1095. doi: 10.1016/j.jaci.2022.09.002. Epub 2022 Oct 11. J Allergy Clin Immunol. 2023. PMID: 36228738 Free PMC article.
26 results