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T-cell defects in patients with ARPC1B germline mutations account for combined immunodeficiency.
Brigida I, Zoccolillo M, Cicalese MP, Pfajfer L, Barzaghi F, Scala S, Oleaga-Quintas C, Álvarez-Álvarez JA, Sereni L, Giannelli S, Sartirana C, Dionisio F, Pavesi L, Benavides-Nieto M, Basso-Ricci L, Capasso P, Mazzi B, Rosain J, Marcus N, Lee YN, Somech R, Degano M, Raiola G, Caorsi R, Picco P, Moncada Velez M, Khourieh J, Arias AA, Bousfiha A, Issekutz T, Issekutz A, Boisson B, Dobbs K, Villa A, Lombardo A, Neven B, Moshous D, Casanova JL, Franco JL, Notarangelo LD, Scielzo C, Volpi S, Dupré L, Bustamante J, Gattorno M, Aiuti A. Brigida I, et al. Among authors: casanova jl. Blood. 2018 Nov 29;132(22):2362-2374. doi: 10.1182/blood-2018-07-863431. Epub 2018 Sep 25. Blood. 2018. PMID: 30254128 Free PMC article.
Primary immunodeficiencies associated with pneumococcal disease.
Picard C, Puel A, Bustamante J, Ku CL, Casanova JL. Picard C, et al. Among authors: casanova jl. Curr Opin Allergy Clin Immunol. 2003 Dec;3(6):451-9. doi: 10.1097/00130832-200312000-00006. Curr Opin Allergy Clin Immunol. 2003. PMID: 14612669 Review.
Primary immunodeficiency diseases: an update.
Notarangelo L, Casanova JL, Fischer A, Puck J, Rosen F, Seger R, Geha R; International Union of Immunological Societies Primary Immunodeficiency diseases classification committee. Notarangelo L, et al. Among authors: casanova jl. J Allergy Clin Immunol. 2004 Sep;114(3):677-87. doi: 10.1016/j.jaci.2004.06.044. J Allergy Clin Immunol. 2004. PMID: 15356576
NEMO mutations in 2 unrelated boys with severe infections and conical teeth.
Ku CL, Dupuis-Girod S, Dittrich AM, Bustamante J, Santos OF, Schulze I, Bertrand Y, Couly G, Bodemer C, Bossuyt X, Picard C, Casanova JL. Ku CL, et al. Among authors: casanova jl. Pediatrics. 2005 May;115(5):e615-9. doi: 10.1542/peds.2004-1754. Epub 2005 Apr 15. Pediatrics. 2005. PMID: 15833888
Heritable defects of the human TLR signalling pathways.
Puel A, Yang K, Ku CL, von Bernuth H, Bustamante J, Santos OF, Lawrence T, Chang HH, Al-Mousa H, Picard C, Casanova JL. Puel A, et al. Among authors: casanova jl. J Endotoxin Res. 2005;11(4):220-4. doi: 10.1179/096805105X37367. J Endotoxin Res. 2005. PMID: 16176658 Review.
1,015 results