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V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations.
Villa A, Sobacchi C, Notarangelo LD, Bozzi F, Abinun M, Abrahamsen TG, Arkwright PD, Baniyash M, Brooks EG, Conley ME, Cortes P, Duse M, Fasth A, Filipovich AM, Infante AJ, Jones A, Mazzolari E, Muller SM, Pasic S, Rechavi G, Sacco MG, Santagata S, Schroeder ML, Seger R, Strina D, Ugazio A, Väliaho J, Vihinen M, Vogler LB, Ochs H, Vezzoni P, Friedrich W, Schwarz K. Villa A, et al. Among authors: jones a. Blood. 2001 Jan 1;97(1):81-8. doi: 10.1182/blood.v97.1.81. Blood. 2001. PMID: 11133745 Free article.
CD40lbase: a database of CD40L gene mutations causing X-linked hyper-IgM syndrome.
Notarangelo LD, Peitsch MC, Abrahamsen TG, Bachelot C, Bordigoni P, Cant AJ, Chapel H, Clementi M, Deacock S, de Saint Basile G, Duse M, Espanol T, Etzioni A, Fasth A, Fischer A, Giliani S, Gomez L, Hammarstorm L, Jones A, Kanariou M, Kinnon C, Klemola T, Kroczek RA, Levy J, Matamoros N, Monafo V, Paolucci P, Reznick I, Sanal O, Smith CI, Thompson RA, Tovo P, Villa A, Vihinen M, Vossen J, Zegers BJ. Notarangelo LD, et al. Among authors: jones a. Immunol Today. 1996 Nov;17(11):511-6. doi: 10.1016/0167-5699(96)30059-5. Immunol Today. 1996. PMID: 8961627
Clinical spectrum of X-linked hyper-IgM syndrome.
Levy J, Espanol-Boren T, Thomas C, Fischer A, Tovo P, Bordigoni P, Resnick I, Fasth A, Baer M, Gomez L, Sanders EA, Tabone MD, Plantaz D, Etzioni A, Monafo V, Abinun M, Hammarstrom L, Abrahamsen T, Jones A, Finn A, Klemola T, DeVries E, Sanal O, Peitsch MC, Notarangelo LD. Levy J, et al. Among authors: jones a. J Pediatr. 1997 Jul;131(1 Pt 1):47-54. doi: 10.1016/s0022-3476(97)70123-9. J Pediatr. 1997. PMID: 9255191
Rapid protein-based assays for the diagnosis of T-B+ severe combined immunodeficiency.
Gilmour KC, Cranston T, Loughlin S, Gwyther J, Lester T, Espanol T, Hernandez M, Savoldi G, Davies EG, Abinun M, Kinnon C, Jones A, Gaspar HB. Gilmour KC, et al. Among authors: jones a. Br J Haematol. 2001 Mar;112(3):671-6. doi: 10.1046/j.1365-2141.2001.02578.x. Br J Haematol. 2001. PMID: 11260071 Free article.
Serial transplantation of mismatched donor hematopoietic cells between HLA-identical sibling pairs with congenital immunodeficiency: in vivo tolerance permits rapid immune reconstitution following T-replete transplantation without GVHD in the secondary recipient.
Cohen JM, Rogers V, Gaspar HB, Jones A, Davies EG, Rao K, McCloskey DJ, Gilmour K, Wynn R, Amrolia PJ, Veys P. Cohen JM, et al. Among authors: jones a. Blood. 2006 Sep 15;108(6):2124-6. doi: 10.1182/blood-2006-03-009712. Epub 2006 May 25. Blood. 2006. PMID: 16728699 Free article.
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