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Page 1
Partial RAG deficiency in humans induces dysregulated peripheral lymphocyte development and humoral tolerance defect with accumulation of T-bet+ B cells.
Csomos K, Ujhazi B, Blazso P, Herrera JL, Tipton CM, Kawai T, Gordon S, Ellison M, Wu K, Stowell M, Haynes L, Cruz R, Zakota B, Nguyen J, Altrich M, Geier CB, Sharapova S, Dasso JF, Leiding JW, Smith G, Al-Herz W, de Barros Dorna M, Fadugba O, Fronkova E, Kanderova V, Svaton M, Henrickson SE, Hernandez JD, Kuijpers T, Kandilarova SM, Naumova E, Milota T, Sediva A, Moshous D, Neven B, Saco T, Sargur R, Savic S, Sleasman J, Sunkersett G, Ward BR, Komatsu M, Pittaluga S, Kumanovics A, Butte MJ, Cancro MP, Pillai S, Meffre E, Notarangelo LD, Walter JE. Csomos K, et al. Nat Immunol. 2022 Aug;23(8):1256-1272. doi: 10.1038/s41590-022-01271-6. Epub 2022 Jul 28. Nat Immunol. 2022. PMID: 35902638 Free PMC article.
Clinical, immunological features, treatments, and outcomes of autoimmune hemolytic anemia in patients with RAG deficiency.
Wang C, Sun B, Wu K, Farmer JR, Ujhazi B, Geier CB, Gordon S, Westermann-Clark E, Savic S, Secord E, Sargur R, Chen K, Jin JJ, Dutmer CM, Kanariou MG, Adeli M, Palma P, Bonfim C, Lycopoulou E, Wolska-Kusnierz B, Dbaibo G, Bleesing J, Moshous D, Neven B, Schuetz C, Geha RS, Notarangelo LD, Miano M, Buchbinder DK, Csomos K, Wang W, Wang JY, Wang X, Walter JE. Wang C, et al. Blood Adv. 2024 Feb 13;8(3):603-607. doi: 10.1182/bloodadvances.2023011264. Blood Adv. 2024. PMID: 37883797 Free PMC article. No abstract available.
Hypomorphic RAG deficiency: impact of disease burden on survival and thymic recovery argues for early diagnosis and HSCT.
Schuetz C, Gerke J, Ege M, Walter J, Kusters M, Worth A, Kanakry JA, Dimitrova D, Wolska-Kuśnierz B, Chen K, Unal E, Karakukcu M, Pashchenko O, Leiding J, Kawai T, Amrolia PJ, Berghuis D, Buechner J, Buchbinder D, Cowan MJ, Gennery AR, Güngör T, Heimall J, Miano M, Meyts I, Morris EC, Rivière J, Sharapova SO, Shaw PJ, Slatter M, Honig M, Veys P, Fischer A, Cavazzana M, Moshous D, Schulz A, Albert MH, Puck JM, Lankester AC, Notarangelo LD, Neven B. Schuetz C, et al. Blood. 2023 Feb 16;141(7):713-724. doi: 10.1182/blood.2022017667. Blood. 2023. PMID: 36279417 Free PMC article.
Separating the Wheat From the Chaff in Asthma and Bronchiectasis: The Saga Trajectory of a Patient With Adult-Onset RAG1 Deficiency.
Chitty Lopez M, Yilmaz M, Diaz-Cabrera NM, Saco T, Ishmael L, Sotoudeh S, Bindernagel C, Ujhazi B, Gordon S, Potts DE, Danziger R, Bosticardo M, Kenney H, Illes P, Lee S, Harris M, Cuellar-Rodriguez J, Patel KN, Csomos K, Dimitrova D, Kanakry JA, Notarangelo LD, Walter JE. Chitty Lopez M, et al. J Allergy Clin Immunol Pract. 2023 Jun;11(6):1972-1980. doi: 10.1016/j.jaip.2023.04.005. Epub 2023 Apr 23. J Allergy Clin Immunol Pract. 2023. PMID: 37088379 Free PMC article. No abstract available.