Biblio

Author Title [ Type(Desc)] Year
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Journal Article
Maffucci P, Chavez J, Jurkiw TJ, O'Brien PJ, Abbott JK, Reynolds PR, Worth A, Notarangelo LD, Felgentreff K, Cortes P, et al. Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies. J Clin Invest. 2018.
Kohn DB, Hershfield MS, Puck JM, Aiuti A, Blincoe A, H Gaspar B, Notarangelo LD, Grunebaum E. Consensus approach for the management of severe combined immune deficiency caused by adenosine deaminase deficiency. J Allergy Clin Immunol. 2018.
Rigoni R, Fontana E, Dobbs K, Marrella V, Taverniti V, Maina V, Facoetti A, D'Amico G, Al-Herz W, Cruz-Munoz MErnesto, et al. Cutaneous barrier leakage and gut inflammation drive skin disease in Omenn Syndrome. J Allergy Clin Immunol. 2020.
Björkman A, Du L, Felgentreff K, Rosner C, Kamdar RPankaj, Kokaraki G, Matsumoto Y, E Davies G, van der Burg M, Notarangelo LD, et al. DNA-PKcs Is Involved in Ig Class Switch Recombination in Human B Cells. J Immunol. 2015.
Goettel JA, Biswas S, Lexmond WS, Yeste A, Passerini L, Patel B, Yang S, Sun J, Ouahed J, Shouval DS, et al. Fatal autoimmunity in mice reconstituted with human hematopoietic stem cells encoding defective FOXP3. Blood. 2015.
Notarangelo LD. Hematopoietic Stem Cell Transplantation for Activated PI3Kδ Syndrome: Who, When and How?. J Allergy Clin Immunol. 2018.
Al-Herz W, Chu JI, van der Spek J, Raghupathy R, Massaad MJ, Keles S, Biggs CM, Cockerton L, Chou J, Dbaibo G, et al. Hematopoietic stem cell transplantation outcomes for 11 patients with dedicator of cytokinesis 8 deficiency. J Allergy Clin Immunol. 2016.
Dobbs K, Conde CDomínguez, Zhang S-Y, Parolini S, Audry M, Chou J, Haapaniemi E, Keles S, Bilic I, Okada S, et al. Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections. N Engl J Med. 2015;372(25):2409-2422.
Dimitrova D, Nademi Z, Maccari MElena, Ehl S, Uzel G, Tomoda T, Okano T, Imai K, Carpenter B, Ip W, et al. International retrospective study of allogeneic hematopoietic cell transplantation for activated PI3K-delta syndrome. J Allergy Clin Immunol. 2021.
Griffith LM, Cowan MJ, Notarangelo LD, Kohn DB, Puck JM, Shearer WT, Burroughs LM, Torgerson TR, Decaluwe H, Haddad E. Primary Immune Deficiency Treatment Consortium (PIDTC) update. J Allergy Clin Immunol. 2016.
Sacco KA, Stack M, Notarangelo LD. Targeted Pharmacologic Immunomodulation for Inborn Errors of Immunity. Br J Clin Pharmacol. 2020.