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Monogenic early-onset lymphoproliferation and autoimmunity: Natural history of STAT3 gain-of-function syndrome.
Leiding JW, Vogel TP, Santarlas VGJ, Mhaskar R, Smith MR, Carisey A, Vargas-Hernández A, Silva-Carmona M, Heeg M, Rensing-Ehl A, Neven B, Hadjadj J, Hambleton S, Ronan Leahy T, Meesilpavikai K, Cunningham-Rundles C, Dutmer CM, Sharapova SO, Taskinen M, Chua I, Hague R, Klemann C, Kostyuchenko L, Morio T, Thatayatikom A, Ozen A, Scherbina A, Bauer CS, Flanagan SE, Gambineri E, Giovannini-Chami L, Heimall J, Sullivan KE, Allenspach E, Romberg N, Deane SG, Prince BT, Rose MJ, Bohnsack J, Mousallem T, Jesudas R, Santos Vilela MMD, O'Sullivan M, Pachlopnik Schmid J, Průhová Š, Klocperk A, Rees M, Su H, Bahna S, Baris S, Bartnikas LM, Chang Berger A, Briggs TA, Brothers S, Bundy V, Chan AY, Chandrakasan S, Christiansen M, Cole T, Cook MC, Desai MM, Fischer U, Fulcher DA, Gallo S, Gauthier A, Gennery AR, Gonçalo Marques J, Gottrand F, Grimbacher B, Grunebaum E, Haapaniemi E, Hämäläinen S, Heiskanen K, Heiskanen-Kosma T, Hoffman HM, Gonzalez-Granado LI, Guerrerio AL, Kainulainen L, Kumar A, Lawrence MG, Levin C, Martelius T, Neth O, Olbrich P, Palma A, Patel NC, Pozos T, Preece K, Lugo Reyes SO, Russell MA, Schejter Y, Seroogy C, Sinclair J, Skevofilax E, Suan D, Suez D, Szabolcs P… See abstract for full author list ➔ Leiding JW, et al. Among authors: klemann c. J Allergy Clin Immunol. 2023 Apr;151(4):1081-1095. doi: 10.1016/j.jaci.2022.09.002. Epub 2022 Oct 11. J Allergy Clin Immunol. 2023. PMID: 36228738 Free PMC article.
Hyperactive mTOR pathway promotes lymphoproliferation and abnormal differentiation in autoimmune lymphoproliferative syndrome.
Völkl S, Rensing-Ehl A, Allgäuer A, Schreiner E, Lorenz MR, Rohr J, Klemann C, Fuchs I, Schuster V, von Bueren AO, Naumann-Bartsch N, Gambineri E, Siepermann K, Kobbe R, Nathrath M, Arkwright PD, Miano M, Stachel KD, Metzler M, Schwarz K, Kremer AN, Speckmann C, Ehl S, Mackensen A. Völkl S, et al. Among authors: klemann c. Blood. 2016 Jul 14;128(2):227-38. doi: 10.1182/blood-2015-11-685024. Epub 2016 Apr 20. Blood. 2016. PMID: 27099149 Free article. Clinical Trial.
Evolution of disease activity and biomarkers on and off rapamycin in 28 patients with autoimmune lymphoproliferative syndrome.
Klemann C, Esquivel M, Magerus-Chatinet A, Lorenz MR, Fuchs I, Neveux N, Castelle M, Rohr J, da Cunha CB, Ebinger M, Kobbe R, Kremens B, Kollert F, Gambineri E, Lehmberg K, Seidel MG, Siepermann K, Voelker T, Schuster V, Goldacker S, Schwarz K, Speckmann C, Picard C, Fischer A, Rieux-Laucat F, Ehl S, Rensing-Ehl A, Neven B. Klemann C, et al. Haematologica. 2017 Feb;102(2):e52-e56. doi: 10.3324/haematol.2016.153411. Epub 2016 Oct 27. Haematologica. 2017. PMID: 27789675 Free PMC article. No abstract available.
Hemophagocytic lymphohistiocytosis as presenting manifestation of profound combined immunodeficiency due to an ORAI1 mutation.
Klemann C, Ammann S, Heizmann M, Fuchs S, Bode SF, Heeg M, Fuchs H, Lehmberg K, Zur Stadt U, Roll C, Vraetz T, Speckmann C, Lorenz MR, Schwarz K, Rohr J, Feske S, Ehl S. Klemann C, et al. J Allergy Clin Immunol. 2017 Dec;140(6):1721-1724. doi: 10.1016/j.jaci.2017.05.039. Epub 2017 Jun 19. J Allergy Clin Immunol. 2017. PMID: 28633876 Free PMC article. No abstract available.
Targeted Gene Panel Sequencing for Early-onset Inflammatory Bowel Disease and Chronic Diarrhea.
Petersen BS, August D, Abt R, Alddafari M, Atarod L, Baris S, Bhavsar H, Brinkert F, Buchta M, Bulashevska A, Chee R, Cordeiro AI, Dara N, Dückers G, Elmarsafy A, Frede N, Galal N, Gerner P, Glocker EO, Goldacker S, Hammermann J, Hasselblatt P, Havlicekova Z, Hübscher K, Jesenak M, Karaca NE, Karakoc-Aydiner E, Kharaghani MM, Kilic SS, Kiykim A, Klein C, Klemann C, Kobbe R, Kotlarz D, Laass MW, Leahy TR, Mesdaghi M, Mitton S, Neves JF, Öztürk B, Pereira LF, Rohr J, Restrepo JLR, Ruzaike G, Saleh N, Seneviratne S, Senol E, Speckmann C, Tegtmeyer D, Thankam P, van der Werff Ten Bosch J, von Bernuth H, Zeissig S, Zeissig Y, Franke A, Grimbacher B. Petersen BS, et al. Among authors: klemann c. Inflamm Bowel Dis. 2017 Dec;23(12):2109-2120. doi: 10.1097/MIB.0000000000001235. Inflamm Bowel Dis. 2017. PMID: 28930861
Effective Immunological Guidance of Genetic Analyses Including Exome Sequencing in Patients Evaluated for Hemophagocytic Lymphohistiocytosis.
Ammann S, Lehmberg K, Zur Stadt U, Klemann C, Bode SFN, Speckmann C, Janka G, Wustrau K, Rakhmanov M, Fuchs I, Hennies HC, Ehl S; HLH study of the GPOH. Ammann S, et al. Among authors: klemann c. J Clin Immunol. 2017 Nov;37(8):770-780. doi: 10.1007/s10875-017-0443-1. Epub 2017 Sep 21. J Clin Immunol. 2017. PMID: 28936583
76 results