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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: lanz al. 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.
Abatacept for treatment-refractory pediatric CTLA4-haploinsufficiency.
Lanz AL, Riester M, Peters P, Schwerd T, Lurz E, Hajji MS, Rohlfs M, Ley-Zaporozhan J, Walz C, Kotlarz D, Klein C, Albert MH, Hauck F. Lanz AL, et al. Clin Immunol. 2021 Aug;229:108779. doi: 10.1016/j.clim.2021.108779. Epub 2021 Jun 8. Clin Immunol. 2021. PMID: 34116213
Humans with inherited MyD88 and IRAK-4 deficiencies are predisposed to hypoxemic COVID-19 pneumonia.
García-García A, Pérez de Diego R, Flores C, Rinchai D, Solé-Violán J, Deyà-Martínez À, García-Solis B, Lorenzo-Salazar JM, Hernández-Brito E, Lanz AL, Moens L, Bucciol G, Almuqamam M, Domachowske JB, Colino E, Santos-Perez JL, Marco FM, Pignata C, Bousfiha A, Turvey SE, Bauer S, Haerynck F, Ocejo-Vinyals JG, Lendinez F, Prader S, Naumann-Bartsch N, Pachlopnik Schmid J, Biggs CM, Hildebrand K, Dreesman A, Cárdenes MÁ, Ailal F, Benhsaien I, Giardino G, Molina-Fuentes A, Fortuny C, Madhavarapu S, Conway DH, Prando C, Schidlowski L, Martínez de Saavedra Álvarez MT, Alfaro R, Rodríguez de Castro F; ESID Registry Working Party; COVID Human Genetic Effort; Meyts I, Hauck F, Puel A, Bastard P, Boisson B, Jouanguy E, Abel L, Cobat A, Zhang Q, Casanova JL, Alsina L, Rodríguez-Gallego C. García-García A, et al. Among authors: lanz al. J Exp Med. 2023 May 1;220(5):e20220170. doi: 10.1084/jem.20220170. Epub 2023 Mar 3. J Exp Med. 2023. PMID: 36880831 Free PMC article.
Aberrant RNA sensing in regulatory T cells causes systemic autoimmunity.
Luca D, Lee S, Hirota K, Okabe Y, Uehori J, Izawa K, Lanz AL, Schütte V, Sivri B, Tsukamoto Y, Hauck F, Behrendt R, Roers A, Fujita T, Nishikomori R, Lee-Kirsch MA, Kato H. Luca D, et al. Among authors: lanz al. Sci Adv. 2024 Mar;10(9):eadk0820. doi: 10.1126/sciadv.adk0820. Epub 2024 Mar 1. Sci Adv. 2024. PMID: 38427731 Free PMC article.
Role of the membrane anchor in the regulation of Lck activity.
Porciello N, Cipria D, Masi G, Lanz AL, Milanetti E, Grottesi A, Howie D, Cobbold SP, Schermelleh L, He HT, D'Abramo M, Destainville N, Acuto O, Nika K. Porciello N, et al. Among authors: lanz al. J Biol Chem. 2022 Dec;298(12):102663. doi: 10.1016/j.jbc.2022.102663. Epub 2022 Nov 11. J Biol Chem. 2022. PMID: 36372231 Free PMC article.
11 results