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Page 1
Low penetrance, broad resistance, and favorable outcome of interleukin 12 receptor beta1 deficiency: medical and immunological implications.
Fieschi C, Dupuis S, Catherinot E, Feinberg J, Bustamante J, Breiman A, Altare F, Baretto R, Le Deist F, Kayal S, Koch H, Richter D, Brezina M, Aksu G, Wood P, Al-Jumaah S, Raspall M, Da Silva Duarte AJ, Tuerlinckx D, Virelizier JL, Fischer A, Enright A, Bernhöft J, Cleary AM, Vermylen C, Rodriguez-Gallego C, Davies G, Blütters-Sawatzki R, Siegrist CA, Ehlayel MS, Novelli V, Haas WH, Levy J, Freihorst J, Al-Hajjar S, Nadal D, De Moraes Vasconcelos D, Jeppsson O, Kutukculer N, Frecerova K, Caragol I, Lammas D, Kumararatne DS, Abel L, Casanova JL. Fieschi C, et al. J Exp Med. 2003 Feb 17;197(4):527-35. doi: 10.1084/jem.20021769. J Exp Med. 2003. PMID: 12591909 Free PMC article.
Revisiting human IL-12Rβ1 deficiency: a survey of 141 patients from 30 countries.
de Beaucoudrey L, Samarina A, Bustamante J, Cobat A, Boisson-Dupuis S, Feinberg J, Al-Muhsen S, Jannière L, Rose Y, de Suremain M, Kong XF, Filipe-Santos O, Chapgier A, Picard C, Fischer A, Dogu F, Ikinciogullari A, Tanir G, Al-Hajjar S, Al-Jumaah S, Frayha HH, AlSum Z, Al-Ajaji S, Alangari A, Al-Ghonaium A, Adimi P, Mansouri D, Ben-Mustapha I, Yancoski J, Garty BZ, Rodriguez-Gallego C, Caragol I, Kutukculer N, Kumararatne DS, Patel S, Doffinger R, Exley A, Jeppsson O, Reichenbach J, Nadal D, Boyko Y, Pietrucha B, Anderson S, Levin M, Schandené L, Schepers K, Efira A, Mascart F, Matsuoka M, Sakai T, Siegrist CA, Frecerova K, Blüetters-Sawatzki R, Bernhöft J, Freihorst J, Baumann U, Richter D, Haerynck F, De Baets F, Novelli V, Lammas D, Vermylen C, Tuerlinckx D, Nieuwhof C, Pac M, Haas WH, Müller-Fleckenstein I, Fleckenstein B, Levy J, Raj R, Cohen AC, Lewis DB, Holland SM, Yang KD, Wang X, Wang X, Jiang L, Yang X, Zhu C, Xie Y, Lee PPW, Chan KW, Chen TX, Castro G, Natera I, Codoceo A, King A, Bezrodnik L, Di Giovani D, Gaillard MI, de Moraes-Vasconcelos D, Grumach AS, da Silva Duarte AJ, Aldana R, Espinosa-Rosales FJ, Bejaoui M, Bousfiha AA, Baghdadi JE, Özbek N, Aksu G, Keser M,… See abstract for full author list ➔ de Beaucoudrey L, et al. Medicine (Baltimore). 2010 Nov;89(6):381-402. doi: 10.1097/MD.0b013e3181fdd832. Medicine (Baltimore). 2010. PMID: 21057261 Free PMC article.
Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds.
Picard C, Fieschi C, Altare F, Al-Jumaah S, Al-Hajjar S, Feinberg J, Dupuis S, Soudais C, Al-Mohsen IZ, Génin E, Lammas D, Kumararatne DS, Leclerc T, Rafii A, Frayha H, Murugasu B, Wah LB, Sinniah R, Loubser M, Okamoto E, Al-Ghonaium A, Tufenkeji H, Abel L, Casanova JL. Picard C, et al. Am J Hum Genet. 2002 Feb;70(2):336-48. doi: 10.1086/338625. Epub 2001 Dec 17. Am J Hum Genet. 2002. PMID: 11753820 Free PMC article.
Pyogenic bacterial infections in humans with IRAK-4 deficiency.
Picard C, Puel A, Bonnet M, Ku CL, Bustamante J, Yang K, Soudais C, Dupuis S, Feinberg J, Fieschi C, Elbim C, Hitchcock R, Lammas D, Davies G, Al-Ghonaium A, Al-Rayes H, Al-Jumaah S, Al-Hajjar S, Al-Mohsen IZ, Frayha HH, Rucker R, Hawn TR, Aderem A, Tufenkeji H, Haraguchi S, Day NK, Good RA, Gougerot-Pocidalo MA, Ozinsky A, Casanova JL. Picard C, et al. Science. 2003 Mar 28;299(5615):2076-9. doi: 10.1126/science.1081902. Epub 2003 Mar 13. Science. 2003. PMID: 12637671
Selective predisposition to bacterial infections in IRAK-4-deficient children: IRAK-4-dependent TLRs are otherwise redundant in protective immunity.
Ku CL, von Bernuth H, Picard C, Zhang SY, Chang HH, Yang K, Chrabieh M, Issekutz AC, Cunningham CK, Gallin J, Holland SM, Roifman C, Ehl S, Smart J, Tang M, Barrat FJ, Levy O, McDonald D, Day-Good NK, Miller R, Takada H, Hara T, Al-Hajjar S, Al-Ghonaium A, Speert D, Sanlaville D, Li X, Geissmann F, Vivier E, Maródi L, Garty BZ, Chapel H, Rodriguez-Gallego C, Bossuyt X, Abel L, Puel A, Casanova JL. Ku CL, et al. J Exp Med. 2007 Oct 1;204(10):2407-22. doi: 10.1084/jem.20070628. Epub 2007 Sep 24. J Exp Med. 2007. PMID: 17893200 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. Medicine (Baltimore). 2010 Nov;89(6):403-425. doi: 10.1097/MD.0b013e3181fd8ec3. Medicine (Baltimore). 2010. PMID: 21057262 Free PMC article.
Inherited IL-12p40 deficiency: genetic, immunologic, and clinical features of 49 patients from 30 kindreds.
Prando C, Samarina A, Bustamante J, Boisson-Dupuis S, Cobat A, Picard C, AlSum Z, Al-Jumaah S, Al-Hajjar S, Frayha H, Al-Mousa H, Ben-Mustapha I, Adimi P, Feinberg J, de Suremain M, Jannière L, Filipe-Santos O, Mansouri N, Stephan JL, Nallusamy R, Kumararatne DS, Bloorsaz MR, Ben-Ali M, Elloumi-Zghal H, Chemli J, Bouguila J, Bejaoui M, Alaki E, AlFawaz TS, Al Idrissi E, ElGhazali G, Pollard AJ, Murugasu B, Wah Lee B, Halwani R, Al-Zahrani M, Al Shehri MA, Al-Zahrani M, Bin-Hussain I, Mahdaviani SA, Parvaneh N, Abel L, Mansouri D, Barbouche R, Al-Muhsen S, Casanova JL. Prando C, et al. Medicine (Baltimore). 2013 Mar;92(2):109-122. doi: 10.1097/MD.0b013e31828a01f9. Medicine (Baltimore). 2013. PMID: 23429356 Free PMC article.
Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations.
Vogt G, Chapgier A, Yang K, Chuzhanova N, Feinberg J, Fieschi C, Boisson-Dupuis S, Alcais A, Filipe-Santos O, Bustamante J, de Beaucoudrey L, Al-Mohsen I, Al-Hajjar S, Al-Ghonaium A, Adimi P, Mirsaeidi M, Khalilzadeh S, Rosenzweig S, de la Calle Martin O, Bauer TR, Puck JM, Ochs HD, Furthner D, Engelhorn C, Belohradsky B, Mansouri D, Holland SM, Schreiber RD, Abel L, Cooper DN, Soudais C, Casanova JL. Vogt G, et al. Nat Genet. 2005 Jul;37(7):692-700. doi: 10.1038/ng1581. Epub 2005 May 29. Nat Genet. 2005. PMID: 15924140
A role for interleukin-12/23 in the maturation of human natural killer and CD56+ T cells in vivo.
Guia S, Cognet C, de Beaucoudrey L, Tessmer MS, Jouanguy E, Berger C, Filipe-Santos O, Feinberg J, Camcioglu Y, Levy J, Al Jumaah S, Al-Hajjar S, Stephan JL, Fieschi C, Abel L, Brossay L, Casanova JL, Vivier E. Guia S, et al. Blood. 2008 May 15;111(10):5008-16. doi: 10.1182/blood-2007-11-122259. Epub 2008 Mar 4. Blood. 2008. PMID: 18319400 Free article.
74 results