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Page 1
A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency.
IRF4 International Consortium; Fornes O, Jia A, Kuehn HS, Min Q, Pannicke U, Schleussner N, Thouenon R, Yu Z, de Los Angeles Astbury M, Biggs CM, Galicchio M, Garcia-Campos JA, Gismondi S, Gonzalez Villarreal G, Hildebrand KJ, Hönig M, Hou J, Moshous D, Pittaluga S, Qian X, Rozmus J, Schulz AS, Staines-Boone AT, Sun B, Sun J, Uwe S, Venegas-Montoya E, Wang W, Wang X, Ying W, Zhai X, Zhou Q, Akalin A, André I, Barth TFE, Baumann B, Brüstle A, Burgio G, Bustamante JC, Casanova JL, Casarotto MG, Cavazzana M, Chentout L, Cockburn IA, Costanza M, Cui C, Daumke O, Del Bel KL, Eibel H, Feng X, Franke V, Gebhardt JCM, Götz A, Grunwald S, Hoareau B, Hughes TR, Jacobsen EM, Janz M, Jolma A, Lagresle-Peyrou C, Lai N, Li Y, Lin S, Lu HY, Lugo-Reyes SO, Meng X, Möller P, Moreno-Corona N, Niemela JE, Novakovsky G, Perez-Caraballo JJ, Picard C, Poggi L, Puig-Lombardi ME, Randall KL, Reisser A, Schmitt Y, Seneviratne S, Sharma M, Stoddard J, Sundararaj S, Sutton H, Tran LQ, Wang Y, Wasserman WW, Wen Z, Winkler W, Xiong E, Yang AWH, Yu M, Zhang L, Zhang H, Zhao Q, Zhen X, Enders A, Kracker S, Martinez-Barricarte R, Mathas S, Rosenzweig SD, Schwarz K, Turvey SE, Wang JY. IRF4 International Consortium, et al. Among authors: schulz as. Sci Immunol. 2023 Jan 20;8(79):eade7953. doi: 10.1126/sciimmunol.ade7953. Epub 2023 Jan 20. Sci Immunol. 2023. PMID: 36662884 Free PMC article.
Non-Skewed X-inactivation Results in NF-κB Essential Modulator (NEMO) Δ-exon 5-autoinflammatory Syndrome (NEMO-NDAS) in a Female with Incontinentia Pigmenti.
Eigemann J, Janda A, Schuetz C, Lee-Kirsch MA, Schulz A, Hoenig M, Furlan I, Jacobsen EM, Zinngrebe J, Peters S, Drewes C, Siebert R, Rump EM, Führer M, Lorenz M, Pannicke U, Kölsch U, Debatin KM, von Bernuth H, Schwarz K, Felgentreff K. Eigemann J, et al. J Clin Immunol. 2024 Sep 12;45(1):1. doi: 10.1007/s10875-024-01799-2. J Clin Immunol. 2024. PMID: 39264518 Free PMC article.
A partial human LCK defect causes a T cell immunodeficiency with intestinal inflammation.
Lui VG, Hoenig M, Cabrera-Martinez B, Baxter RM, Garcia-Perez JE, Bailey O, Acharya A, Lundquist K, Capera J, Matusewicz P, Hartl FA, D'Abramo M, Alba J, Jacobsen EM, Niewolik D, Lorenz M, Pannicke U, Schulz AS, Debatin KM, Schamel WW, Minguet S, Gumbart JC, Dustin ML, Cambier JC, Schwarz K, Hsieh EWY. Lui VG, et al. Among authors: schulz as. J Exp Med. 2024 Jan 1;221(1):e20230927. doi: 10.1084/jem.20230927. Epub 2023 Nov 14. J Exp Med. 2024. PMID: 37962568 Free PMC article.
Positive and negative selection shape the human naive B cell repertoire.
Chen JW, Schickel JN, Tsakiris N, Sng J, Arbogast F, Bouis D, Parisi D, Gera R, Boeckers JM, Delmotte FR, Veselits M, Schuetz C, Jacobsen EM, Posovszky C, Schulz AS, Schwarz K, Clark MR, Menard L, Meffre E. Chen JW, et al. Among authors: schulz as. J Clin Invest. 2022 Jan 18;132(2):e150985. doi: 10.1172/JCI150985. J Clin Invest. 2022. PMID: 34813502 Free PMC article.
Thymic Epithelial Cell Alterations and Defective Thymopoiesis Lead to Central and Peripheral Tolerance Perturbation in MHCII Deficiency.
Ferrua F, Bortolomai I, Fontana E, Di Silvestre D, Rigoni R, Marcovecchio GE, Draghici E, Brambilla F, Castiello MC, Delfanti G, Moshous D, Picard C, Taghon T, Bordon V, Schulz AS, Schuetz C, Giliani S, Soresina A, Gennery AR, Signa S, Dávila Saldaña BJ, Delmonte OM, Notarangelo LD, Roifman CM, Poliani PL, Uva P, Mauri PL, Villa A, Bosticardo M. Ferrua F, et al. Among authors: schulz as. Front Immunol. 2021 Jun 15;12:669943. doi: 10.3389/fimmu.2021.669943. eCollection 2021. Front Immunol. 2021. PMID: 34211466 Free PMC article.
64 results