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294 results

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Page 1
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: puel a. 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: puel a. 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.
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: puel a. Curr Opin Hematol. 2005 Jan;12(1):22-30. doi: 10.1097/01.moh.0000149609.37309.0a. Curr Opin Hematol. 2005. PMID: 15604887 Review.
The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.
Puel A, Reichenbach J, Bustamante J, Ku CL, Feinberg J, Döffinger R, Bonnet M, Filipe-Santos O, de Beaucoudrey L, Durandy A, Horneff G, Novelli F, Wahn V, Smahi A, Israel A, Niehues T, Casanova JL. Puel A, et al. Am J Hum Genet. 2006 Apr;78(4):691-701. doi: 10.1086/501532. Epub 2006 Feb 15. Am J Hum Genet. 2006. PMID: 16532398 Free PMC article.
Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency.
Picard C, von Bernuth H, Ghandil P, Chrabieh M, Levy O, Arkwright PD, McDonald D, Geha RS, Takada H, Krause JC, Creech CB, Ku CL, Ehl S, Maródi L, Al-Muhsen S, Al-Hajjar S, Al-Ghonaium A, Day-Good NK, Holland SM, Gallin JI, Chapel H, Speert DP, Rodriguez-Gallego C, Colino E, Garty BZ, Roifman C, Hara T, Yoshikawa H, Nonoyama S, Domachowske J, Issekutz AC, Tang M, Smart J, Zitnik SE, Hoarau C, Kumararatne DS, Thrasher AJ, Davies EG, Bethune C, Sirvent N, de Ricaud D, Camcioglu Y, Vasconcelos J, Guedes M, Vitor AB, Rodrigo C, Almazán F, Méndez M, Aróstegui JI, Alsina L, Fortuny C, Reichenbach J, Verbsky JW, Bossuyt X, Doffinger R, Abel L, Puel A, Casanova JL. Picard C, et al. Among authors: puel a. Medicine (Baltimore). 2010 Nov;89(6):403-425. doi: 10.1097/MD.0b013e3181fd8ec3. Medicine (Baltimore). 2010. PMID: 21057262 Free PMC article.
NEMO is a key component of NF-κB- and IRF-3-dependent TLR3-mediated immunity to herpes simplex virus.
Audry M, Ciancanelli M, Yang K, Cobat A, Chang HH, Sancho-Shimizu V, Lorenzo L, Niehues T, Reichenbach J, Li XX, Israel A, Abel L, Casanova JL, Zhang SY, Jouanguy E, Puel A. Audry M, et al. Among authors: puel a. J Allergy Clin Immunol. 2011 Sep;128(3):610-7.e1-4. doi: 10.1016/j.jaci.2011.04.059. Epub 2011 Jul 1. J Allergy Clin Immunol. 2011. PMID: 21722947 Free PMC article.
A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy.
Schimke LF, Rieber N, Rylaarsdam S, Cabral-Marques O, Hubbard N, Puel A, Kallmann L, Sombke SA, Notheis G, Schwarz HP, Kammer B, Hökfelt T, Repp R, Picard C, Casanova JL, Belohradsky BH, Albert MH, Ochs HD, Renner ED, Torgerson TR. Schimke LF, et al. Among authors: puel a. J Clin Immunol. 2013 Aug;33(6):1088-99. doi: 10.1007/s10875-013-9906-1. Epub 2013 May 25. J Clin Immunol. 2013. PMID: 23708964
A narrow repertoire of transcriptional modules responsive to pyogenic bacteria is impaired in patients carrying loss-of-function mutations in MYD88 or IRAK4.
Alsina L, Israelsson E, Altman MC, Dang KK, Ghandil P, Israel L, von Bernuth H, Baldwin N, Qin H, Jin Z, Banchereau R, Anguiano E, Ionan A, Abel L, Puel A, Picard C, Pascual V, Casanova JL, Chaussabel D. Alsina L, et al. Among authors: puel a. Nat Immunol. 2014 Dec;15(12):1134-42. doi: 10.1038/ni.3028. Epub 2014 Oct 26. Nat Immunol. 2014. PMID: 25344726 Free PMC article.
294 results