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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. Among authors: pittaluga s. 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.
Hypomorphic Rag mutations can cause destructive midline granulomatous disease.
De Ravin SS, Cowen EW, Zarember KA, Whiting-Theobald NL, Kuhns DB, Sandler NG, Douek DC, Pittaluga S, Poliani PL, Lee YN, Notarangelo LD, Wang L, Alt FW, Kang EM, Milner JD, Niemela JE, Fontana-Penn M, Sinal SH, Malech HL. De Ravin SS, et al. Among authors: pittaluga s. Blood. 2010 Aug 26;116(8):1263-71. doi: 10.1182/blood-2010-02-267583. Epub 2010 May 20. Blood. 2010. PMID: 20489056 Free PMC article.
Pathologic Findings in NEMO Deficiency: A Surgical and Autopsy Survey.
Huppmann AR, Leiding JW, Hsu AP, Raffeld M, Uzel G, Pittaluga S, Holland SM. Huppmann AR, et al. Among authors: pittaluga s. Pediatr Dev Pathol. 2015 Sep-Oct;18(5):387-400. doi: 10.2350/15-05-1631-OA.1. Epub 2015 Jul 31. Pediatr Dev Pathol. 2015. PMID: 26230867
Hyperactivated PI3Kδ promotes self and commensal reactivity at the expense of optimal humoral immunity.
Preite S, Cannons JL, Radtke AJ, Vujkovic-Cvijin I, Gomez-Rodriguez J, Volpi S, Huang B, Cheng J, Collins N, Reilley J, Handon R, Dobbs K, Huq L, Raman I, Zhu C, Li QZ, Li MO, Pittaluga S, Uzel G, Notarangelo LD, Belkaid Y, Germain RN, Schwartzberg PL. Preite S, et al. Among authors: pittaluga s. Nat Immunol. 2018 Sep;19(9):986-1000. doi: 10.1038/s41590-018-0182-3. Epub 2018 Aug 20. Nat Immunol. 2018. PMID: 30127432 Free PMC article.
Disseminated and Congenital Toxoplasmosis in a Mother and Child With Activated PI3-Kinase δ Syndrome Type 2 (APDS2): Case Report and a Literature Review of Toxoplasma Infections in Primary Immunodeficiencies.
Karanovic D, Michelow IC, Hayward AR, DeRavin SS, Delmonte OM, Grigg ME, Dobbs AK, Niemela JE, Stoddard J, Alhinai Z, Rybak N, Hernandez N, Pittaluga S, Rosenzweig SD, Uzel G, Notarangelo LD. Karanovic D, et al. Among authors: pittaluga s. Front Immunol. 2019 Feb 14;10:77. doi: 10.3389/fimmu.2019.00077. eCollection 2019. Front Immunol. 2019. PMID: 30891027 Free PMC article. Review.
Cutaneous barrier leakage and gut inflammation drive skin disease in Omenn syndrome.
Rigoni R, Fontana E, Dobbs K, Marrella V, Taverniti V, Maina V, Facoetti A, D'Amico G, Al-Herz W, Cruz-Munoz ME, Schuetz C, Gennery AR, Garabedian EK, Giliani S, Draper D, Dbaibo G, Geha RS, Meyts I, Tousseyn T, Neven B, Moshous D, Fischer A, Schulz A, Finocchi A, Kuhns DB, Fink DL, Lionakis MS, Swamydas M, Guglielmetti S, Alejo J, Myles IA, Pittaluga S, Notarangelo LD, Villa A, Cassani B. Rigoni R, et al. Among authors: pittaluga s. J Allergy Clin Immunol. 2020 Nov;146(5):1165-1179.e11. doi: 10.1016/j.jaci.2020.04.005. Epub 2020 Apr 18. J Allergy Clin Immunol. 2020. PMID: 32311393 Free PMC article.
Lost in Translation: Lack of CD4 Expression due to a Novel Genetic Defect.
Lisco A, Ye P, Wong CS, Pei L, Hsu AP, Mace EM, Orange JS, Lage SL, Ward AJ, Migueles SA, Connors M, Anderson MV, Buckner CM, Moir S, Rupert A, Dulau-Florea A, Ogbogu P, Timberlake D, Notarangelo LD, Pittaluga S, Abraham RS, Sereti I. Lisco A, et al. Among authors: pittaluga s. J Infect Dis. 2021 Feb 24;223(4):645-654. doi: 10.1093/infdis/jiab025. J Infect Dis. 2021. PMID: 33471124 Free PMC article.
Evidence of SARS-CoV-2-Specific T-Cell-Mediated Myocarditis in a MIS-A Case.
Vannella KM, Oguz C, Stein SR, Pittaluga S, Dikoglu E, Kanwal A, Ramelli SC, Briese T, Su L, Wu X, Ramos-Benitez MJ, Perez-Valencia LJ, Babyak A, Cha NR, Chung JY, Ylaya K, Madathil RJ, Saharia KK, Scalea TM, Tran QK, Herr DL, Kleiner DE, Hewitt SM, Notarangelo LD, Grazioli A, Chertow DS. Vannella KM, et al. Among authors: pittaluga s. Front Immunol. 2021 Dec 9;12:779026. doi: 10.3389/fimmu.2021.779026. eCollection 2021. Front Immunol. 2021. PMID: 34956207 Free PMC article.
397 results