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Page 1
Alterations in the brain adenosine metabolism cause behavioral and neurological impairment in ADA-deficient mice and patients.
Sauer AV, Hernandez RJ, Fumagalli F, Bianchi V, Poliani PL, Dallatomasina C, Riboni E, Politi LS, Tabucchi A, Carlucci F, Casiraghi M, Carriglio N, Cominelli M, Forcellini CA, Barzaghi F, Ferrua F, Minicucci F, Medaglini S, Leocani L, la Marca G, Notarangelo LD, Azzari C, Comi G, Baldoli C, Canale S, Sessa M, D'Adamo P, Aiuti A. Sauer AV, et al. Among authors: notarangelo ld. Sci Rep. 2017 Jan 11;7:40136. doi: 10.1038/srep40136. Sci Rep. 2017. PMID: 28074903 Free PMC article.
Long-term and real-world safety and efficacy of retroviral gene therapy for adenosine deaminase deficiency.
Migliavacca M, Barzaghi F, Fossati C, Rancoita PMV, Gabaldo M, Dionisio F, Giannelli S, Salerio FA, Ferrua F, Tucci F, Calbi V, Gallo V, Recupero S, Consiglieri G, Pajno R, Sambuco M, Priolo A, Ferri C, Garella V, Monti I, Silvani P, Darin S, Casiraghi M, Corti A, Zancan S, Levi M, Cesana D, Carlucci F, Pituch-Noworolska A, AbdElaziz D, Baumann U, Finocchi A, Cancrini C, Ladogana S, Meinhardt A, Meyts I, Montin D, Notarangelo LD, Porta F, Pasquet M, Speckmann C, Stepensky P, Tommasini A, Rabusin M, Karakas Z, Galicchio M, Leonardi L, Duse M, Guner SN, Di Serio C, Ciceri F, Bernardo ME, Aiuti A, Cicalese MP. Migliavacca M, et al. Among authors: notarangelo ld. Nat Med. 2024 Feb;30(2):488-497. doi: 10.1038/s41591-023-02789-4. Epub 2024 Feb 14. Nat Med. 2024. PMID: 38355973 Free PMC article.
Wiskott-Aldrich syndrome: a study of 577 patients defines the genotype as a biomarker for disease severity and survival.
Vallée TC, Glasmacher JS, Buchner H, Arkwright PD, Behrends U, Bondarenko A, Browning MJ, Buchbinder D, Cattoni A, Chernyshova L, Ciznar P, Cole T, Czogała W, Dueckers G, Edgar JDM, Erbey F, Fasth A, Ferrua F, Formankova R, Gambineri E, Gennery AR, Goldman FD, Gonzalez-Granado LI, Heilmann C, Heiskanen-Kosma T, Juntti H, Kainulainen L, Kanegane H, Karaca NE, Kilic SS, Klein C, Kołtan S, Kondratenko I, Meyts I, Nasrullayeva GM, Notarangelo LD, Pasic S, Pellier I, Pignata C, Misbah S, Schulz A, Segundo GR, Shcherbina A, Slatter M, Sokolic R, Soler-Palacin P, Stepensky P, van Montfrans JM, Ryhänen S, Wolska-Kuśnierz B, Ziegler JB, Zhao X, Aiuti A, Ochs HD, Albert MH. Vallée TC, et al. Among authors: notarangelo ld. Blood. 2024 Jun 13;143(24):2504-2516. doi: 10.1182/blood.2023021411. Blood. 2024. PMID: 38579284
Pediatric SARS-CoV-2 long term outcomes study (PECOS): cross sectional analysis at baseline.
Montealegre Sanchez GA, Arrigoni LE, Yonts AB, Rubenstein KB, Bost JE, Wolff MT, Barrix MC, Bandettini WP, Boateng B, Bulas DI, Burklow TR, Carlyle KP, Chen M, Das S, Dewar RL, Dixon AA, Edu MA, Falik RL, Geslak ML, Gierdalski M, Harahsheh AS, Herbert LJ, Highbarger J, Huq SR, Ko A, Koumbourlis AC, Lacey SR, Lipton AJ, Monaghan M, Ndour AS, Olivieri LJ, Pillai DK, Rehm CA, Sable CA, Sachdev V, Thurm AE, Truong UT, Turkbey EB, Vilain E, Weyers S, White JS, Williams AA, Zember J, Liang CJ, Delaney M, Batshaw ML, Notarangelo LD, Wessel DL, Barron K, DeBiasi RL. Montealegre Sanchez GA, et al. Among authors: notarangelo ld. Pediatr Res. 2024 Dec 18. doi: 10.1038/s41390-024-03777-1. Online ahead of print. Pediatr Res. 2024. PMID: 39695262
A spatial human thymus cell atlas mapped to a continuous tissue axis.
Yayon N, Kedlian VR, Boehme L, Suo C, Wachter BT, Beuschel RT, Amsalem O, Polanski K, Koplev S, Tuck E, Dann E, Van Hulle J, Perera S, Putteman T, Predeus AV, Dabrowska M, Richardson L, Tudor C, Kreins AY, Engelbert J, Stephenson E, Kleshchevnikov V, De Rita F, Crossland D, Bosticardo M, Pala F, Prigmore E, Chipampe NJ, Prete M, Fei L, To K, Barker RA, He X, Van Nieuwerburgh F, Bayraktar OA, Patel M, Davies EG, Haniffa MA, Uhlmann V, Notarangelo LD, Germain RN, Radtke AJ, Marioni JC, Taghon T, Teichmann SA. Yayon N, et al. Among authors: notarangelo ld. Nature. 2024 Nov;635(8039):708-718. doi: 10.1038/s41586-024-07944-6. Epub 2024 Nov 20. Nature. 2024. PMID: 39567784 Free PMC article.
Thymic inborn errors of immunity.
Pala F, Notarangelo LD, Lionakis MS. Pala F, et al. Among authors: notarangelo ld. J Allergy Clin Immunol. 2024 Oct 18:S0091-6749(24)01066-2. doi: 10.1016/j.jaci.2024.10.009. Online ahead of print. J Allergy Clin Immunol. 2024. PMID: 39428079 Review.
Case report: Artificial thymic organoids facilitate clinical decisions for a patient with a TP63 variant and severe persistent T cell lymphopenia.
Gall A, Bosticardo M, Ma S, Chen K, Amini K, Pala F, Delmonte OM, Wenger T, Bamshad M, Sleasman J, Blessing M, van Oers NSC, Notarangelo LD, de la Morena MT. Gall A, et al. Among authors: notarangelo ld. Front Immunol. 2024 Sep 18;15:1438383. doi: 10.3389/fimmu.2024.1438383. eCollection 2024. Front Immunol. 2024. PMID: 39364398 Free PMC article.
IL-7-dependent and -independent lineages of IL-7R-dependent human T cells.
Arango-Franco CA, Ogishi M, Unger S, Delmonte OM, Orrego JC, Yatim A, Velasquez-Lopera MM, Zea-Vera AF, Bohlen J, Chbihi M, Fayand A, Sánchez JP, Rojas J, Seeleuthner Y, Le Voyer T, Philippot Q, Payne KJ, Gervais A, Erazo-Borrás LV, Correa-Londoño LA, Cederholm A, Gallón-Duque A, Goncalves P, Doisne JM, Horev L, Charmeteau-de Muylder B, Álvarez JÁ, Arboleda DM, Pérez-Zapata L, Vásquez-Echeverri E, Moncada-Vélez M, López JA, Caicedo Y, Palterer B, Patiño PJ, Montoya CJ, Chaldebas M, Zhang P, Nguyen T, Ma CS, Jeljeli M, Alzate JF, Cabarcas F, Khan T, Rinchai D, Prétet JL, Boisson B; Generalized Verrucosis Japanese Consortium; Marr N, Ibrahim R, Molho-Pessach V, Boisson-Dupuis S, Kiritsi D, Barata JT, Landegren N, Neven B, Abel L, Lisco A, Béziat V, Jouanguy E, Bustamante J, Di Santo JP, Tangye SG, Notarangelo LD, Cheynier R, Natsuga K, Arias AA, Franco JL, Warnatz K, Casanova JL, Puel A. Arango-Franco CA, et al. Among authors: notarangelo ld. J Clin Invest. 2024 Oct 1;134(19):e180251. doi: 10.1172/JCI180251. J Clin Invest. 2024. PMID: 39352394 Free PMC article.
767 results