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Year Number of Results
2007 2
2008 1
2009 2
2010 2
2011 3
2012 6
2013 9
2014 7
2015 12
2016 18
2017 15
2018 14
2019 10
2020 10
2021 18
2022 18
2023 12

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123 results

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Page 1
Gain-of-function IKZF1 variants in humans cause immune dysregulation associated with abnormal T/B cell late differentiation.
Hoshino A, Boutboul D, Zhang Y, Kuehn HS, Hadjadj J, Özdemir N, Celkan T, Walz C, Picard C, Lenoir C, Mahlaoui N, Klein C, Peng X, Azar A, Reigh E, Cheminant M, Fischer A, Rieux-Laucat F, Callebaut I, Hauck F, Milner J, Rosenzweig SD, Latour S. Hoshino A, et al. Among authors: boutboul d. Sci Immunol. 2022 Mar 25;7(69):eabi7160. doi: 10.1126/sciimmunol.abi7160. Epub 2022 Mar 25. Sci Immunol. 2022. PMID: 35333544
[EBV and immunodeficiency].
Dieudonne Y, Martin M, Korganow AS, Boutboul D, Guffroy A. Dieudonne Y, et al. Among authors: boutboul d. Rev Med Interne. 2021 Dec;42(12):832-843. doi: 10.1016/j.revmed.2021.03.324. Epub 2021 Apr 16. Rev Med Interne. 2021. PMID: 33867195 Review. French.
Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome.
Béziat V, Tavernier SJ, Chen YH, Ma CS, Materna M, Laurence A, Staal J, Aschenbrenner D, Roels L, Worley L, Claes K, Gartner L, Kohn LA, De Bruyne M, Schmitz-Abe K, Charbonnier LM, Keles S, Nammour J, Vladikine N, Maglorius Renkilaraj MRL, Seeleuthner Y, Migaud M, Rosain J, Jeljeli M, Boisson B, Van Braeckel E, Rosenfeld JA, Dai H, Burrage LC, Murdock DR, Lambrecht BN, Avettand-Fenoel V, Vogel TP; Undiagnosed Diseases Network; Esther CR, Haskologlu S, Dogu F, Ciznar P, Boutboul D, Ouachée-Chardin M, Amourette J, Lebras MN, Gauvain C, Tcherakian C, Ikinciogullari A, Beyaert R, Abel L, Milner JD, Grimbacher B, Couderc LJ, Butte MJ, Freeman AF, Catherinot É, Fieschi C, Chatila TA, Tangye SG, Uhlig HH, Haerynck F, Casanova JL, Puel A. Béziat V, et al. Among authors: boutboul d. J Exp Med. 2020 Jun 1;217(6):e20191804. doi: 10.1084/jem.20191804. J Exp Med. 2020. PMID: 32207811 Free PMC article.
Identification of germline monoallelic mutations in IKZF2 in patients with immune dysregulation.
Shahin T, Mayr D, Shoeb MR, Kuehn HS, Hoeger B, Giuliani S, Gawriyski LM, Petronczki ÖY, Hadjadj J, Bal SK, Zoghi S, Haimel M, Jimenez Heredia R, Boutboul D, Triebwasser MP, Rialland-Battisti F, Costedoat Chalumeau N, Quartier P, Tangye SG, Fleisher TA, Rezaei N, Romberg N, Latour S, Varjosalo M, Halbritter F, Rieux-Laucat F, Castanon I, Rosenzweig SD, Boztug K. Shahin T, et al. Among authors: boutboul d. Blood Adv. 2022 Apr 12;6(7):2444-2451. doi: 10.1182/bloodadvances.2021006367. Blood Adv. 2022. PMID: 34920454 Free PMC article.
Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency.
Lévy R, Gothe F, Momenilandi M, Magg T, Materna M, Peters P, Raedler J, Philippot Q, Rack-Hoch AL, Langlais D, Bourgey M, Lanz AL, Ogishi M, Rosain J, Martin E, Latour S, Vladikine N, Distefano M, Khan T, Rapaport F, Schulz MS, Holzer U, Fasth A, Sogkas G, Speckmann C, Troilo A, Bigley V, Roppelt A, Dinur-Schejter Y, Toker O, Bronken Martinsen KH, Sherkat R, Somekh I, Somech R, Shouval DS, Kühl JS, Ip W, McDermott EM, Cliffe L, Ozen A, Baris S, Rangarajan HG, Jouanguy E, Puel A, Bustamante J, Alyanakian MA, Fusaro M, Wang Y, Kong XF, Cobat A, Boutboul D, Castelle M, Aguilar C, Hermine O, Cheminant M, Suarez F, Yildiran A, Bousfiha A, Al-Mousa H, Alsohime F, Cagdas D, Abraham RS, Knutsen AP, Fevang B, Bhattad S, Kiykim A, Erman B, Arikoglu T, Unal E, Kumar A, Geier CB, Baumann U, Neven B; CARMIL2 Consortium; Rohlfs M, Walz C, Abel L, Malissen B, Marr N, Klein C, Casanova JL, Hauck F, Béziat V. Lévy R, et al. Among authors: boutboul d. J Exp Med. 2023 Feb 6;220(2):e20220275. doi: 10.1084/jem.20220275. Epub 2022 Dec 14. J Exp Med. 2023. PMID: 36515678 Free PMC article.
Vaccine breakthrough hypoxemic COVID-19 pneumonia in patients with auto-Abs neutralizing type I IFNs.
Bastard P, Vazquez S, Liu J, Laurie MT, Wang CY, Gervais A, Le Voyer T, Bizien L, Zamecnik C, Philippot Q, Rosain J, Catherinot E, Willmore A, Mitchell AM, Bair R, Garçon P, Kenney H, Fekkar A, Salagianni M, Poulakou G, Siouti E, Sahanic S, Tancevski I, Weiss G, Nagl L, Manry J, Duvlis S, Arroyo-Sánchez D, Paz Artal E, Rubio L, Perani C, Bezzi M, Sottini A, Quaresima V, Roussel L, Vinh DC, Reyes LF, Garzaro M, Hatipoglu N, Boutboul D, Tandjaoui-Lambiotte Y, Borghesi A, Aliberti A, Cassaniti I, Venet F, Monneret G, Halwani R, Sharif-Askari NS, Danielson J, Burrel S, Morbieu C, Stepanovskyy Y, Bondarenko A, Volokha A, Boyarchuk O, Gagro A, Neuville M, Neven B, Keles S, Hernu R, Bal A, Novelli A, Novelli G, Saker K, Ailioaie O, Antolí A, Jeziorski E, Rocamora-Blanch G, Teixeira C, Delaunay C, Lhuillier M, Le Turnier P, Zhang Y, Mahevas M, Pan-Hammarström Q, Abolhassani H, Bompoil T, Dorgham K; COVID HGE consortium †; French COVID study group †; COMET consortium †; Gorochov G, Laouenan C, Rodríguez-Gallego C, Ng LFP, Renia L, Pujol A, Belot A, Raffi F, Allende LM, Martinez-Picado J, Ozcelik T, Keles S, Imberti L, Notarangelo LD, Troya J, Solanich X, Zhang SY, Puel A, Wilson MR,… See abstract for full author list ➔ Bastard P, et al. Among authors: boutboul d. Sci Immunol. 2022 Jun 14:eabp8966. doi: 10.1126/sciimmunol.abp8966. Online ahead of print. Sci Immunol. 2022. PMID: 35857576 Free PMC article.
[HHV-8 Related immunological and hematological diseases].
Blaison F, Galtier J, Parrens M, Viallard JF, Boutboul D. Blaison F, et al. Among authors: boutboul d. Rev Med Interne. 2022 May;43(5):301-311. doi: 10.1016/j.revmed.2021.10.004. Epub 2021 Dec 9. Rev Med Interne. 2022. PMID: 34895767 Review. French.
Cutaneous manifestations of lymphoid-variant hypereosinophilic syndrome.
Laurent C, Lefèvre G, Kahn JE, Staumont-Salle D, Felten R, Puget M, Moulinet T, Machelart I, Launay D, Charvet E, Bouaziz JD, Jachiet M, Espitia A, Mahr A, Le Clech C, Malphettes M, Morice C, Mourah S, Moins-Teisserenc H, Lifermann F, Soulier-Guérin K, Villate A, Baillou C, Grados A, Robbins A, Abisror N, Bagot M, Boutboul D, Panel K, Vignon-Pennamen MD, Rivet J, Battistella M, Groh M, de Masson A; CEREO network. Laurent C, et al. Among authors: boutboul d. Br J Dermatol. 2022 Dec;187(6):1011-1013. doi: 10.1111/bjd.21782. Epub 2022 Aug 12. Br J Dermatol. 2022. PMID: 35862277 Free PMC article.
123 results