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Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study.
Coulter TI, Chandra A, Bacon CM, Babar J, Curtis J, Screaton N, Goodlad JR, Farmer G, Steele CL, Leahy TR, Doffinger R, Baxendale H, Bernatoniene J, Edgar JD, Longhurst HJ, Ehl S, Speckmann C, Grimbacher B, Sediva A, Milota T, Faust SN, Williams AP, Hayman G, Kucuk ZY, Hague R, French P, Brooker R, Forsyth P, Herriot R, Cancrini C, Palma P, Ariganello P, Conlon N, Feighery C, Gavin PJ, Jones A, Imai K, Ibrahim MA, Markelj G, Abinun M, Rieux-Laucat F, Latour S, Pellier I, Fischer A, Touzot F, Casanova JL, Durandy A, Burns SO, Savic S, Kumararatne DS, Moshous D, Kracker S, Vanhaesebroeck B, Okkenhaug K, Picard C, Nejentsev S, Condliffe AM, Cant AJ. Coulter TI, et al. Among authors: casanova jl. J Allergy Clin Immunol. 2017 Feb;139(2):597-606.e4. doi: 10.1016/j.jaci.2016.06.021. Epub 2016 Jul 16. J Allergy Clin Immunol. 2017. PMID: 27555459 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.
Autoantibodies to interferon-gamma in a patient with selective susceptibility to mycobacterial infection and organ-specific autoimmunity.
Döffinger R, Helbert MR, Barcenas-Morales G, Yang K, Dupuis S, Ceron-Gutierrez L, Espitia-Pinzon C, Barnes N, Bothamley G, Casanova JL, Longhurst HJ, Kumararatne DS. Döffinger R, et al. Among authors: casanova jl. Clin Infect Dis. 2004 Jan 1;38(1):e10-4. doi: 10.1086/380453. Epub 2003 Dec 4. Clin Infect Dis. 2004. PMID: 14679469
A novel developmental and immunodeficiency syndrome associated with intrauterine growth retardation and a lack of natural killer cells.
Bernard F, Picard C, Cormier-Daire V, Eidenschenk C, Pinto G, Bustamante JC, Jouanguy E, Teillac-Hamel D, Colomb V, Funck-Brentano I, Pascal V, Vivier E, Fischer A, Le Deist F, Casanova JL. Bernard F, et al. Among authors: casanova jl. Pediatrics. 2004 Jan;113(1 Pt 1):136-41. doi: 10.1542/peds.113.1.136. Pediatrics. 2004. PMID: 14702466
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.
1,015 results