Casanova JL - Search Results

1

Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations.

Miot C, Imai K, Imai C, Mancini AJ, Kucuk ZY, Kawai T, Nishikomori R, Ito E, Pellier I, Dupuis Girod S, Rosain J, Sasaki S, Chandrakasan S, Pachlopnik Schmid J, Okano T, Colin E, Olaya-Vargas A, Yamazaki-Nakashimada M, Qasim W, Espinosa Padilla S, Jones A, Krol A, Cole N, Jolles S, Bleesing J, Vraetz T, Gennery AR, Abinun M, Güngör T, Costa-Carvalho B, Condino-Neto A, Veys P, Holland SM, Uzel G, Moshous D, Neven B, Blanche S, Ehl S, Döffinger R, Patel SY, Puel A, Bustamante J, Gelfand EW, Casanova JL, Orange JS, Picard C. Miot C, et al. Among authors: casanova jl. Blood. 2017 Sep 21;130(12):1456-1467. doi: 10.1182/blood-2017-03-771600. Epub 2017 Jul 5. Blood. 2017. PMID: 28679735 Free PMC article.

2

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

3

The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes.

Smahi A, Courtois G, Rabia SH, Döffinger R, Bodemer C, Munnich A, Casanova JL, Israël A. Smahi A, et al. Among authors: casanova jl. Hum Mol Genet. 2002 Oct 1;11(20):2371-5. doi: 10.1093/hmg/11.20.2371. Hum Mol Genet. 2002. PMID: 12351572 Review.

4

Partial T and B lymphocyte immunodeficiency and predisposition to lymphoma in patients with hypomorphic mutations in Artemis.

Moshous D, Pannetier C, Chasseval Rd Rd, Deist Fl Fl, Cavazzana-Calvo M, Romana S, Macintyre E, Canioni D, Brousse N, Fischer A, Casanova JL, Villartay JP. Moshous D, et al. Among authors: casanova jl. J Clin Invest. 2003 Feb;111(3):381-7. doi: 10.1172/JCI16774. J Clin Invest. 2003. PMID: 12569164 Free PMC article.

5

Autoimmunity in Wiskott-Aldrich syndrome: risk factors, clinical features, and outcome in a single-center cohort of 55 patients.

Dupuis-Girod S, Medioni J, Haddad E, Quartier P, Cavazzana-Calvo M, Le Deist F, de Saint Basile G, Delaunay J, Schwarz K, Casanova JL, Blanche S, Fischer A. Dupuis-Girod S, et al. Among authors: casanova jl. Pediatrics. 2003 May;111(5 Pt 1):e622-7. doi: 10.1542/peds.111.5.e622. Pediatrics. 2003. PMID: 12728121

6

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.

7

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.

8

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

9

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.

10

HHV-8-associated Kaposi sarcoma in a child with IFNgammaR1 deficiency.

Camcioglu Y, Picard C, Lacoste V, Dupuis S, Akçakaya N, Cokura H, Kaner G, Demirkesen C, Plancoulaine S, Emile JF, Gessain A, Casanova JL. Camcioglu Y, et al. Among authors: casanova jl. J Pediatr. 2004 Apr;144(4):519-23. doi: 10.1016/j.jpeds.2003.11.012. J Pediatr. 2004. PMID: 15069403

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