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Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency.
Boisson B, Laplantine E, Prando C, Giliani S, Israelsson E, Xu Z, Abhyankar A, Israël L, Trevejo-Nunez G, Bogunovic D, Cepika AM, MacDuff D, Chrabieh M, Hubeau M, Bajolle F, Debré M, Mazzolari E, Vairo D, Agou F, Virgin HW, Bossuyt X, Rambaud C, Facchetti F, Bonnet D, Quartier P, Fournet JC, Pascual V, Chaussabel D, Notarangelo LD, Puel A, Israël A, Casanova JL, Picard C. Boisson B, et al. Among authors: casanova jl. Nat Immunol. 2012 Dec;13(12):1178-86. doi: 10.1038/ni.2457. Epub 2012 Oct 28. Nat Immunol. 2012. PMID: 23104095 Free PMC article.
Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother.
Dupuis-Girod S, Corradini N, Hadj-Rabia S, Fournet JC, Faivre L, Le Deist F, Durand P, Döffinger R, Smahi A, Israel A, Courtois G, Brousse N, Blanche S, Munnich A, Fischer A, Casanova JL, Bodemer C. Dupuis-Girod S, et al. Among authors: casanova jl. Pediatrics. 2002 Jun;109(6):e97. doi: 10.1542/peds.109.6.e97. Pediatrics. 2002. PMID: 12042591
A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency.
Courtois G, Smahi A, Reichenbach J, Döffinger R, Cancrini C, Bonnet M, Puel A, Chable-Bessia C, Yamaoka S, Feinberg J, Dupuis-Girod S, Bodemer C, Livadiotti S, Novelli F, Rossi P, Fischer A, Israël A, Munnich A, Le Deist F, Casanova JL. Courtois G, et al. Among authors: casanova jl. J Clin Invest. 2003 Oct;112(7):1108-15. doi: 10.1172/JCI18714. J Clin Invest. 2003. PMID: 14523047 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.
Inherited disorders of NF-kappaB-mediated immunity in man.
Puel A, Picard C, Ku CL, Smahi A, Casanova JL. Puel A, et al. Among authors: casanova jl. Curr Opin Immunol. 2004 Feb;16(1):34-41. doi: 10.1016/j.coi.2003.11.013. Curr Opin Immunol. 2004. PMID: 14734108 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
Inherited disorders of cytokines.
Picard C, Casanova JL. Picard C, et al. Among authors: casanova jl. Curr Opin Pediatr. 2004 Dec;16(6):648-58. doi: 10.1097/01.mop.0000145919.92477.5f. Curr Opin Pediatr. 2004. PMID: 15548928 Review.
Autosomal-dominant primary immunodeficiencies.
Lawrence T, Puel A, Reichenbach J, Ku CL, Chapgier A, Renner E, Minard-Colin V, Ouachée M, Casanova JL. Lawrence T, et al. Among authors: casanova jl. Curr Opin Hematol. 2005 Jan;12(1):22-30. doi: 10.1097/01.moh.0000149609.37309.0a. Curr Opin Hematol. 2005. PMID: 15604887 Review.
1,015 results