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Page 1
Human T-bet governs the generation of a distinct subset of CD11chighCD21low B cells.
Yang R, Avery DT, Jackson KJL, Ogishi M, Benhsaien I, Du L, Ye X, Han J, Rosain J, Peel JN, Alyanakian MA, Neven B, Winter S, Puel A, Boisson B, Payne KJ, Wong M, Russell AJ, Mizoguchi Y, Okada S, Uzel G, Goodnow CC, Latour S, El Bakkouri J, Bousfiha A, Preece K, Gray PE, Keller B, Warnatz K, Boisson-Dupuis S, Abel L, Pan-Hammarström Q, Bustamante J, Ma CS, Casanova JL, Tangye SG. Yang R, et al. Among authors: neven b. Sci Immunol. 2022 Jul 22;7(73):eabq3277. doi: 10.1126/sciimmunol.abq3277. Epub 2022 Jul 22. Sci Immunol. 2022. PMID: 35867801 Free PMC article.
The CARD11-BCL10-MALT1 (CBM) signalosome complex: Stepping into the limelight of human primary immunodeficiency.
Turvey SE, Durandy A, Fischer A, Fung SY, Geha RS, Gewies A, Giese T, Greil J, Keller B, McKinnon ML, Neven B, Rozmus J, Ruland J, Snow AL, Stepensky P, Warnatz K. Turvey SE, et al. Among authors: neven b. J Allergy Clin Immunol. 2014 Aug;134(2):276-84. doi: 10.1016/j.jaci.2014.06.015. J Allergy Clin Immunol. 2014. PMID: 25087226 Free PMC article. Review.
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.
Toubiana J, Okada S, Hiller J, Oleastro M, Lagos Gomez M, Aldave Becerra JC, Ouachée-Chardin M, Fouyssac F, Girisha KM, Etzioni A, Van Montfrans J, Camcioglu Y, Kerns LA, Belohradsky B, Blanche S, Bousfiha A, Rodriguez-Gallego C, Meyts I, Kisand K, Reichenbach J, Renner ED, Rosenzweig S, Grimbacher B, van de Veerdonk FL, Traidl-Hoffmann C, Picard C, Marodi L, Morio T, Kobayashi M, Lilic D, Milner JD, Holland S, Casanova JL, Puel A; International STAT1 Gain-of-Function Study Group. Toubiana J, et al. Blood. 2016 Jun 23;127(25):3154-64. doi: 10.1182/blood-2015-11-679902. Epub 2016 Apr 25. Blood. 2016. PMID: 27114460 Free PMC article.
Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations.
Miot C, Imai K, Imai C, Mancini AJ, Kucuk ZY, Kawai T, Nishikomori R, Ito E, Pellier I, Dupuis Girod S, Rosain J, Sasaki S, Chandrakasan S, Pachlopnik Schmid J, Okano T, Colin E, Olaya-Vargas A, Yamazaki-Nakashimada M, Qasim W, Espinosa Padilla S, Jones A, Krol A, Cole N, Jolles S, Bleesing J, Vraetz T, Gennery AR, Abinun M, Güngör T, Costa-Carvalho B, Condino-Neto A, Veys P, Holland SM, Uzel G, Moshous D, Neven B, Blanche S, Ehl S, Döffinger R, Patel SY, Puel A, Bustamante J, Gelfand EW, Casanova JL, Orange JS, Picard C. Miot C, et al. Among authors: neven b. Blood. 2017 Sep 21;130(12):1456-1467. doi: 10.1182/blood-2017-03-771600. Epub 2017 Jul 5. Blood. 2017. PMID: 28679735 Free PMC article.
Epithelial barrier dysfunction in desmoglein-1 deficiency.
Polivka L, Hadj-Rabia S, Bal E, Leclerc-Mercier S, Madrange M, Hamel Y, Bonnet D, Mallet S, Lepidi H, Ovaert C, Barbet P, Dupont C, Neven B, Munnich A, Godsel LM, Campeotto F, Weil R, Laplantine E, Marchetto S, Borg JP, Weis WI, Casanova JL, Puel A, Green KJ, Bodemer C, Smahi A. Polivka L, et al. Among authors: neven b. J Allergy Clin Immunol. 2018 Aug;142(2):702-706.e7. doi: 10.1016/j.jaci.2018.04.007. Epub 2018 Apr 27. J Allergy Clin Immunol. 2018. PMID: 29705242 Free PMC article. No abstract available.
T-cell defects in patients with ARPC1B germline mutations account for combined immunodeficiency.
Brigida I, Zoccolillo M, Cicalese MP, Pfajfer L, Barzaghi F, Scala S, Oleaga-Quintas C, Álvarez-Álvarez JA, Sereni L, Giannelli S, Sartirana C, Dionisio F, Pavesi L, Benavides-Nieto M, Basso-Ricci L, Capasso P, Mazzi B, Rosain J, Marcus N, Lee YN, Somech R, Degano M, Raiola G, Caorsi R, Picco P, Moncada Velez M, Khourieh J, Arias AA, Bousfiha A, Issekutz T, Issekutz A, Boisson B, Dobbs K, Villa A, Lombardo A, Neven B, Moshous D, Casanova JL, Franco JL, Notarangelo LD, Scielzo C, Volpi S, Dupré L, Bustamante J, Gattorno M, Aiuti A. Brigida I, et al. Among authors: neven b. Blood. 2018 Nov 29;132(22):2362-2374. doi: 10.1182/blood-2018-07-863431. Epub 2018 Sep 25. Blood. 2018. PMID: 30254128 Free PMC article.
Copy number variations and founder effect underlying complete IL-10Rβ deficiency in Portuguese kindreds.
Charbit-Henrion F, Bègue B, Sierra A, Hanein S, Stolzenberg MC, Li Z, Pellegrini S, Garcelon N, Jeanpierre M, Neven B, Loge I, Picard C, Rosain J, Bustamante J, Le Lorc'h M, Pigneur B, Fernandes A; GENIUS Group; Rieux-Laucat F, Amil Dias J, Ruemmele FM, Cerf-Bensussan N. Charbit-Henrion F, et al. Among authors: neven b. PLoS One. 2018 Oct 26;13(10):e0205826. doi: 10.1371/journal.pone.0205826. eCollection 2018. PLoS One. 2018. PMID: 30365510 Free PMC article.
Current Understanding and Future Research Priorities in Malignancy Associated With Inborn Errors of Immunity and DNA Repair Disorders: The Perspective of an Interdisciplinary Working Group.
Bomken S, van der Werff Ten Bosch J, Attarbaschi A, Bacon CM, Borkhardt A, Boztug K, Fischer U, Hauck F, Kuiper RP, Lammens T, Loeffen J, Neven B, Pan-Hammarström Q, Quinti I, Seidel MG, Warnatz K, Wehr C, Lankester AC, Gennery AR. Bomken S, et al. Among authors: neven b. Front Immunol. 2018 Dec 12;9:2912. doi: 10.3389/fimmu.2018.02912. eCollection 2018. Front Immunol. 2018. PMID: 30619276 Free PMC article. Review.
The European Society for Immunodeficiencies (ESID) Registry Working Definitions for the Clinical Diagnosis of Inborn Errors of Immunity.
Seidel MG, Kindle G, Gathmann B, Quinti I, Buckland M, van Montfrans J, Scheible R, Rusch S, Gasteiger LM, Grimbacher B, Mahlaoui N, Ehl S; ESID Registry Working Party and collaborators. Seidel MG, et al. J Allergy Clin Immunol Pract. 2019 Jul-Aug;7(6):1763-1770. doi: 10.1016/j.jaip.2019.02.004. Epub 2019 Feb 15. J Allergy Clin Immunol Pract. 2019. PMID: 30776527
Hematopoietic stem cell transplant effectively rescues lymphocyte differentiation and function in DOCK8-deficient patients.
Pillay BA, Avery DT, Smart JM, Cole T, Choo S, Chan D, Gray PE, Frith K, Mitchell R, Phan TG, Wong M, Campbell DE, Hsu P, Ziegler JB, Peake J, Alvaro F, Picard C, Bustamante J, Neven B, Cant AJ, Uzel G, Arkwright PD, Casanova JL, Su HC, Freeman AF, Shah N, Hickstein DD, Tangye SG, Ma CS. Pillay BA, et al. Among authors: neven b. JCI Insight. 2019 Apr 25;5(11):e127527. doi: 10.1172/jci.insight.127527. JCI Insight. 2019. PMID: 31021819 Free PMC article.
319 results