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C-terminal variants in CDC42 drive type I interferon-dependent autoinflammation in NOCARH syndrome reversible by ruxolitinib.
Kapp FG, Kretschmer S, Beckmann CCA, Wäsch L, Molitor A, Carapito R, Schubert M, Lucas N, Conrad S, Poignant S, Isidor B, Rohlfs M, Kisaarslan AP, Schanze D, Zenker M, Schmitt-Graeff A, Strahm B, Peters A, Yoshimi A, Driever W, Zillinger T, Günther C, Maharana S, Guan K, Klein C, Ehl S, Niemeyer CM, Unal E, Bahram S, Hauck F, Lee-Kirsch MA, Speckmann C. Kapp FG, et al. Among authors: unal e. Clin Immunol. 2023 Nov;256:109777. doi: 10.1016/j.clim.2023.109777. Epub 2023 Sep 22. Clin Immunol. 2023. PMID: 37741518
JAK inhibitor treatment for inborn errors of JAK/STAT signaling: An ESID/EBMT-IEWP retrospective study.
Fischer M, Olbrich P, Hadjadj J, Aumann V, Bakhtiar S, Barlogis V, von Bismarck P, Bloomfield M, Booth C, Buddingh EP, Cagdas D, Castelle M, Chan AY, Chandrakasan S, Chetty K, Cougoul P, Crickx E, Dara J, Deyà-Martínez A, Farmand S, Formankova R, Gennery AR, Gonzalez-Granado LI, Hagin D, Hanitsch LG, Hanzlikovà J, Hauck F, Ivorra-Cortés J, Kisand K, Kiykim A, Körholz J, Leahy TR, van Montfrans J, Nademi Z, Nelken B, Parikh S, Plado S, Ramakers J, Redlich A, Rieux-Laucat F, Rivière JG, Rodina Y, Júnior PR, Salou S, Schuetz C, Shcherbina A, Slatter MA, Touzot F, Unal E, Lankester AC, Burns S, Seppänen MRJ, Neth O, Albert MH, Ehl S, Neven B, Speckmann C. Fischer M, et al. Among authors: unal e. J Allergy Clin Immunol. 2024 Jan;153(1):275-286.e18. doi: 10.1016/j.jaci.2023.10.018. Epub 2023 Nov 5. J Allergy Clin Immunol. 2024. PMID: 37935260
Pyruvate kinase deficiency in 29 Turkish patients with two novel intronic variants.
Gök V, Leblebisatan G, Gürlek Gökçebay D, Güler S, Doğan ME, Tuğ Bozdoğan S, Koca Yozgat A, Özcan A, Pekpak Şahinoğlu E, Tokgöz H, Çil M, Özemri Sağ Ş, Yilmaz E, Şaşmaz Hİ, Evim MS, Akbayram S, Karadoğan M, Mutlu FT, Boğa İ, Yeter Doğan B, Yarali N, Çalişkan Ü, Bişgin A, Temel ŞG, Proven M, Gibson K, Demir BŞ, Saraçoğlu H, Eken A, Karakükçü Ç, Karakükçü M, Güneş AM, Özbek NY, Kilinç Y, Patiroğlu T, Özdemir MA, Roy NBA, Ünal E. Gök V, et al. Among authors: unal e. Br J Haematol. 2024 May 29. doi: 10.1111/bjh.19575. Online ahead of print. Br J Haematol. 2024. PMID: 38811201
Outcomes of HLA-mismatched HSCT with TCRαβ/CD19 depletion or post-HSCT cyclophosphamide for inborn errors of immunity.
Lum SH, Albert MH, Gilbert P, Sirait T, Algeri M, Muratori R, Fournier B, Laberko A, Karakukcu M, Unal E, Ayas MF, Yadav SP, Fisgin T, Elfeky R, Fernandes JF, Faraci M, Cole T, Schulz AS, Meisel R, Zecca M, Ifversen M, Biffi A, Diana JS, Vallée TC, Giardino S, Ersoy GZ, Moshous D, Gennery AR, Balashov D, Bonfim CMS, Locatelli F, Lankester AC, Neven B, Slatter MA. Lum SH, et al. Among authors: unal e. Blood. 2024 Apr 26:blood.2024024038. doi: 10.1182/blood.2024024038. Online ahead of print. Blood. 2024. PMID: 38669631
707 results