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Comparative efficacy of leniolisib (CDZ173) versus standard of care on rates of respiratory tract infection and serum immunoglobulin M (IgM) levels among individuals with activated phosphoinositide 3-kinase delta (PI3Kδ) syndrome (APDS): An externally-controlled study.
Whalen J, Chandra A, Kracker S, Ehl S, Seidel MG, Gulas I, Dron L, Velummailum R, Nagamuthu C, Liu S, Tutein Nolthenius J, Maccari ME; European Society for Immunodeficiencies (ESID)-APDS Registry Working Party. Whalen J, et al. Among authors: ehl s. Clin Exp Immunol. 2024 Dec 2:uxae107. doi: 10.1093/cei/uxae107. Online ahead of print. Clin Exp Immunol. 2024. PMID: 39673396
A pleiotropic recurrent dominant ITPR3 variant causes a complex multisystemic disease.
Molitor A, Lederle A, Radosavljevic M, Sapuru V, Zavorka Thomas ME, Yang J, Shirin M, Collin-Bund V, Jerabkova-Roda K, Miao Z, Bernard A, Rolli V, Grenot P, Castro CN, Rosenzwajg M, Lewis EG, Person R, Esperón-Moldes US, Kaare M, Nokelainen PT, Batzir NA, Hoffer GZ, Paul N, Stemmelen T, Naegely L, Hanauer A, Bibi-Triki S, Grün S, Jung S, Busnelli I, Tripolszki K, Al-Ali R, Ordonez N, Bauer P, Song E, Zajo K, Partida-Sanchez S, Robledo-Avila F, Kumanovics A, Louzoun Y, Hirschler A, Pichot A, Toker O, Mejía CAM, Parvaneh N, Knapp E, Hersh JH, Kenney H, Delmonte OM, Notarangelo LD, Goetz JG, Kahwash SB, Carapito C, Bajwa RPS, Thomas C, Ehl S, Isidor B, Carapito R, Abraham RS, Hite RK, Marcus N, Bertoli-Avella A, Bahram S. Molitor A, et al. Among authors: ehl s. Sci Adv. 2024 Sep 13;10(37):eado5545. doi: 10.1126/sciadv.ado5545. Epub 2024 Sep 13. Sci Adv. 2024. PMID: 39270020 Free PMC article.
Immune profiling and functional analysis of NK and T cells in ataxia telangiectasia.
Graafen L, Heinze A, Albinger N, Salzmann-Manrique E, Ganß F, Hünecke S, Cappel C, Wölke S, Donath H, Trischler J, Theilen TM, Heller C, Königs C, Ehl S, Bader P, Klingebiel T, Klusmann JH, Zielen S, Schubert R, Ullrich E. Graafen L, et al. Among authors: ehl s. Front Immunol. 2024 Aug 6;15:1377955. doi: 10.3389/fimmu.2024.1377955. eCollection 2024. Front Immunol. 2024. PMID: 39165363 Free PMC article.
Efficacy of T-cell assays for the diagnosis of primary defects in cytotoxic lymphocyte exocytosis.
Chiang SCC, Covill LE, Tesi B, Campbell TM, Schlums H, Nejati-Zendegani J, Mördrup K, Wood S, Theorell J, Sekine T, Al-Herz W, Akar HH, Belen FB, Chan MY, Devecioglu O, Aksu T, Ifversen M, Malinowska I, Sabel M, Unal E, Unal S, Introne WJ, Krzewski K, Gilmour KC, Ehl S, Ljunggren HG, Nordenskjöld M, Horne A, Henter JI, Meeths M, Bryceson YT. Chiang SCC, et al. Among authors: ehl s. Blood. 2024 Aug 22;144(8):873-887. doi: 10.1182/blood.2024024499. Blood. 2024. PMID: 38958468 Free PMC article.
Correction: Patients and mice with deficiency in the SNARE protein SYNTAXIN-11 have a secondary B cell defect.
Kögl T, Chang HF, Staniek J, Chiang SCC, Thoulass G, Lao J, Weißert K, Dettmer-Monaco V, Geiger K, Manna PT, Beziat V, Momenilandi M, Tu SM, Keppler SJ, Pattu V, Wolf P, Kupferschmid L, Tholen S, Covill LE, Ebert K, Straub T, Groß M, Gather R, Engel H, Salzer U, Schell C, Maier S, Lehmberg K, Cornu TI, Pircher H, Shahrooei M, Parvaneh N, Elling R, Rizzi M, Bryceson YT, Ehl S, Aichele P, Ammann S. Kögl T, et al. Among authors: ehl s. J Exp Med. 2024 Jul 1;221(7):e2022112205142024c. doi: 10.1084/jem.2022112205142024c. Epub 2024 May 21. J Exp Med. 2024. PMID: 38771261 Free PMC article. No abstract available.
267 results