Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations.
Guerrini MM
Am J Hum Genet. 83(1):64-76. doi: 10.1016/j.ajhg.2008.06.015
Gene therapy for immunodeficiency due to adenosine deaminase deficiency.
Aiuti A
N Engl J Med. 360(5):447-58. doi: 10.1056/NEJMoa0805817
Integration of retroviral vectors induces minor changes in the transcriptional activity of T cells from ADA-SCID patients treated with gene therapy.
Cassani B
Blood. 2009 Aug 3;114(17):3546-56. doi: 10.1182/blood-2009-02-202085
Homeostatic expansion of autoreactive immunoglobulin-secreting cells in the Rag2 mouse model of Omenn syndrome.
Cassani B
J Exp Med. 2010 Jun 14;207(7):1525-40. doi: 10.1084/jem.20091928
Blocking lymphocyte localization to the gastrointestinal mucosa as a therapeutic strategy for inflammatory bowel diseases.
Villablanca EJ
Gastroenterology. 140(6):1776-84. doi: 10.1053/j.gastro.2011.02.015
Gut-tropic T cells that express integrin α4β7 and CCR9 are required for induction of oral immune tolerance in mice.
Cassani B
Gastroenterology. 2011 Sep 16;141(6):2109-18. doi: 10.1053/j.gastro.2011.09.015
Lentiviral-mediated gene therapy restores B cell tolerance in Wiskott-Aldrich syndrome patients.
Pala F
J Clin Invest. 2015 Sep 14;125(10):3941-51. doi: 10.1172/JCI82249
Intestinal microbiota sustains inflammation and autoimmunity induced by hypomorphic RAG defects.
Rigoni R
J Exp Med. 2016 Feb 29;213(3):355-75. doi: 10.1084/jem.20151116
B lymphocytes limit senescence-driven fibrosis resolution and favor hepatocarcinogenesis in mouse liver injury.
Faggioli F
Hepatology. 2018 Mar 25;67(5):1970-1985. doi: 10.1002/hep.29636
Efficacy of lentivirus-mediated gene therapy in an Omenn syndrome recombination-activating gene 2 mouse model is not hindered by inflammation and immune dysregulation.
Capo V
J Allergy Clin Immunol. 2017 Dec 11;142(3):928-941.e8. doi: 10.1016/j.jaci.2017.11.015