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Page 1
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: kuhl js. 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.
Hematologic Cancer after Gene Therapy for Cerebral Adrenoleukodystrophy.
Duncan CN, Bledsoe JR, Grzywacz B, Beckman A, Bonner M, Eichler FS, Kühl JS, Harris MH, Slauson S, Colvin RA, Prasad VK, Downey GF, Pierciey FJ, Kinney MA, Foos M, Lodaya A, Floro N, Parsons G, Dietz AC, Gupta AO, Orchard PJ, Thakar HL, Williams DA. Duncan CN, et al. Among authors: kuhl js. N Engl J Med. 2024 Oct 10;391(14):1287-1301. doi: 10.1056/NEJMoa2405541. N Engl J Med. 2024. PMID: 39383458 Clinical Trial.
Lentiviral Gene Therapy for Cerebral Adrenoleukodystrophy.
Eichler F, Duncan CN, Musolino PL, Lund TC, Gupta AO, De Oliveira S, Thrasher AJ, Aubourg P, Kühl JS, Loes DJ, Amartino H, Smith N, Folloni Fernandes J, Sevin C, Sankar R, Hussain SA, Gissen P, Dalle JH, Platzbecker U, Downey GF, McNeil E, Demopoulos L, Dietz AC, Thakar HL, Orchard PJ, Williams DA. Eichler F, et al. Among authors: kuhl js. N Engl J Med. 2024 Oct 10;391(14):1302-1312. doi: 10.1056/NEJMoa2400442. N Engl J Med. 2024. PMID: 39383459 Clinical Trial.
Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents.
Wlodarski MW, Hirabayashi S, Pastor V, Starý J, Hasle H, Masetti R, Dworzak M, Schmugge M, van den Heuvel-Eibrink M, Ussowicz M, De Moerloose B, Catala A, Smith OP, Sedlacek P, Lankester AC, Zecca M, Bordon V, Matthes-Martin S, Abrahamsson J, Kühl JS, Sykora KW, Albert MH, Przychodzien B, Maciejewski JP, Schwarz S, Göhring G, Schlegelberger B, Cseh A, Noellke P, Yoshimi A, Locatelli F, Baumann I, Strahm B, Niemeyer CM; EWOG-MDS. Wlodarski MW, et al. Among authors: kuhl js. Blood. 2016 Mar 17;127(11):1387-97; quiz 1518. doi: 10.1182/blood-2015-09-669937. Epub 2015 Dec 23. Blood. 2016. PMID: 26702063 Free article.
Biomarker-based risk prediction for the onset of neuroinflammation in X-linked adrenoleukodystrophy.
Weinhofer I, Rommer P, Gleiss A, Ponleitner M, Zierfuss B, Waidhofer-Söllner P, Fourcade S, Grabmeier-Pfistershammer K, Reinert MC, Göpfert J, Heine A, Yska HAF, Casasnovas C, Cantarín V, Bergner CG, Mallack E, Forss-Petter S, Aubourg P, Bley A, Engelen M, Eichler F, Lund TC, Pujol A, Köhler W, Kühl JS, Berger J. Weinhofer I, et al. Among authors: kuhl js. EBioMedicine. 2023 Oct;96:104781. doi: 10.1016/j.ebiom.2023.104781. Epub 2023 Sep 7. EBioMedicine. 2023. PMID: 37683329 Free PMC article.
Hemophagocytic lymphohistiocytosis-like hyperinflammation due to a de novo mutation in DPP9.
Wolf C, Fischer H, Kühl JS, Koss S, Jamra RA, Starke S, Schultz J, Ehl S, Neumann K, Schuetz C, Huber R, Hornung V, Lee-Kirsch MA. Wolf C, et al. Among authors: kuhl js. J Allergy Clin Immunol. 2023 Nov;152(5):1336-1344.e5. doi: 10.1016/j.jaci.2023.07.013. Epub 2023 Aug 5. J Allergy Clin Immunol. 2023. PMID: 37544411 Free PMC article.
Case report: Treatment of advanced CSF1-receptor associated leukoencephalopathy with hematopoietic stem cell transplant.
Bergner CG, Schäfer L, Vucinic V, Schetschorke B, Lier J, Scherlach C, Rullmann M, Sabri O, Classen J, Platzbecker U, Kühl JS, Barthel H, Köhler W, Franke GN. Bergner CG, et al. Among authors: kuhl js. Front Neurol. 2023 May 24;14:1163107. doi: 10.3389/fneur.2023.1163107. eCollection 2023. Front Neurol. 2023. PMID: 37292133 Free PMC article.
Incidence of subsequent malignancies after total body irradiation-based allogeneic HSCT in children with ALL - long-term follow-up from the prospective ALL-SCT 2003 trial.
Eichinger A, Poetschger U, Glogova E, Bader P, Basu O, Beier R, Burkhardt B, Classen CF, Claviez A, Corbacioglu S, Deubzer HE, Greil J, Gruhn B, Güngör T, Kafa K, Kühl JS, Lang P, Lange BS, Meisel R, Müller I, Sauer MG, Schlegel PG, Schulz A, Stachel D, Strahm B, Wawer A, Peters C, Albert MH. Eichinger A, et al. Among authors: kuhl js. Leukemia. 2022 Nov;36(11):2567-2576. doi: 10.1038/s41375-022-01693-z. Epub 2022 Sep 12. Leukemia. 2022. PMID: 36097283 Free PMC article.
55 results