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Items: 24

1.

Accounting for genetic heterogeneity in homozygosity mapping: application to Mendelian susceptibility to mycobacterial disease.

Grant AV, Boisson-Dupuis S, Herquelot E, de Beaucoudrey L, Filipe-Santos O, Nolan DK, Feinberg J, Boland A, Al-Muhsen S, Sanal O, Camcioglu Y, Palanduz A, Kilic SS, Bustamante J, Casanova JL, Abel L.

J Med Genet. 2011 Aug;48(8):567-71. doi: 10.1136/jmg.2011.089128. Epub 2011 May 14.

2.

Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease.

Bustamante J, Arias AA, Vogt G, Picard C, Galicia LB, Prando C, Grant AV, Marchal CC, Hubeau M, Chapgier A, de Beaucoudrey L, Puel A, Feinberg J, Valinetz E, Jannière L, Besse C, Boland A, Brisseau JM, Blanche S, Lortholary O, Fieschi C, Emile JF, Boisson-Dupuis S, Al-Muhsen S, Woda B, Newburger PE, Condino-Neto A, Dinauer MC, Abel L, Casanova JL.

Nat Immunol. 2011 Mar;12(3):213-21. doi: 10.1038/ni.1992. Epub 2011 Jan 30.

3.

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 PP, 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, Ozbek N, Aksu G, Keser M, Somer A, Hatipoglu N, Aydogmus C, Asilsoy S, Camcioglu Y, Gülle S, Ozgur TT, Ozen M, Oleastro M, Bernasconi A, Mamishi S, Parvaneh N, Rosenzweig S, Barbouche R, Pedraza S, Lau YL, Ehlayel MS, Fieschi C, Abel L, Sanal O, Casanova JL.

Medicine (Baltimore). 2010 Nov;89(6):381-402. doi: 10.1097/MD.0b013e3181fdd832.

4.

Multiple cutaneous squamous cell carcinomas in a patient with interferon gamma receptor 2 (IFN gamma R2) deficiency.

Toyoda H, Ido M, Nakanishi K, Nakano T, Kamiya H, Matsumine A, Uchida A, Mizutani H, de Beaucoudrey L, Vogt G, Boisson-Dupuis S, Bustamante J, Casanova JL, Komada Y.

J Med Genet. 2010 Sep;47(9):631-4. doi: 10.1136/jmg.2009.072108. Epub 2010 Jun 28.

PMID:
20587411
5.

Bacille Calmette-Guérin infection and disease with fatal outcome associated with a point mutation in the interleukin-12/interleukin-23 receptor beta-1 chain in two Mexican families.

Pedraza-Sánchez S, Herrera-Barrios MT, Aldana-Vergara R, Neumann-Ordoñez M, González-Hernández Y, Sada-Díaz E, de Beaucoudrey L, Casanova JL, Torres-Rojas M.

Int J Infect Dis. 2010 Sep;14 Suppl 3:e256-60. doi: 10.1016/j.ijid.2009.11.005. Epub 2010 Feb 19.

6.

A partial form of recessive STAT1 deficiency in humans.

Chapgier A, Kong XF, Boisson-Dupuis S, Jouanguy E, Averbuch D, Feinberg J, Zhang SY, Bustamante J, Vogt G, Lejeune J, Mayola E, de Beaucoudrey L, Abel L, Engelhard D, Casanova JL.

J Clin Invest. 2009 Jun;119(6):1502-14. doi: 10.1172/JCI37083. Epub 2009 May 11.

7.

Simultaneous presentation of 2 rare hereditary immunodeficiencies: IL-12 receptor beta1 deficiency and ataxia-telangiectasia.

Ehlayel M, de Beaucoudrey L, Fike F, Nahas SA, Feinberg J, Casanova JL, Gatti RA.

J Allergy Clin Immunol. 2008 Dec;122(6):1217-9. doi: 10.1016/j.jaci.2008.07.005. Epub 2008 Aug 20. No abstract available.

PMID:
18718650
8.

Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells.

de Beaucoudrey L, Puel A, Filipe-Santos O, Cobat A, Ghandil P, Chrabieh M, Feinberg J, von Bernuth H, Samarina A, Jannière L, Fieschi C, Stéphan JL, Boileau C, Lyonnet S, Jondeau G, Cormier-Daire V, Le Merrer M, Hoarau C, Lebranchu Y, Lortholary O, Chandesris MO, Tron F, Gambineri E, Bianchi L, Rodriguez-Gallego C, Zitnik SE, Vasconcelos J, Guedes M, Vitor AB, Marodi L, Chapel H, Reid B, Roifman C, Nadal D, Reichenbach J, Caragol I, Garty BZ, Dogu F, Camcioglu Y, Gülle S, Sanal O, Fischer A, Abel L, Stockinger B, Picard C, Casanova JL.

J Exp Med. 2008 Jul 7;205(7):1543-50. doi: 10.1084/jem.20080321.

9.

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.

Blood. 2008 May 15;111(10):5008-16. doi: 10.1182/blood-2007-11-122259. Epub 2008 Mar 4.

PMID:
18319400
10.

Mycobacterial disease in a child with surface-expressed non-functional interleukin-12Rbeta1 chains.

Scheuerman O, de Beaucoudrey L, Hoffer V, Feinberg J, Casanova JL, Garty BZ.

Isr Med Assoc J. 2007 Jul;9(7):560-1. No abstract available.

11.

BCG-osis and tuberculosis in a child with chronic granulomatous disease.

Bustamante J, Aksu G, Vogt G, de Beaucoudrey L, Genel F, Chapgier A, Filipe-Santos O, Feinberg J, Emile JF, Kutukculer N, Casanova JL.

J Allergy Clin Immunol. 2007 Jul;120(1):32-8. Epub 2007 Jun 4.

PMID:
17544093
12.

A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease.

Bustamante J, Picard C, Fieschi C, Filipe-Santos O, Feinberg J, Perronne C, Chapgier A, de Beaucoudrey L, Vogt G, Sanlaville D, Lemainque A, Emile JF, Abel L, Casanova JL.

J Med Genet. 2007 Feb;44(2):e65.

13.

Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features.

Filipe-Santos O, Bustamante J, Chapgier A, Vogt G, de Beaucoudrey L, Feinberg J, Jouanguy E, Boisson-Dupuis S, Fieschi C, Picard C, Casanova JL.

Semin Immunol. 2006 Dec;18(6):347-61. Epub 2006 Sep 25. Review. Erratum in: Semin Immunol. 2007 Apr;19(2):136-7.

PMID:
16997570
14.

T cell-dependent activation of dendritic cells requires IL-12 and IFN-gamma signaling in T cells.

Miro F, Nobile C, Blanchard N, Lind M, Filipe-Santos O, Fieschi C, Chapgier A, Vogt G, de Beaucoudrey L, Kumararatne DS, Le Deist F, Casanova JL, Amigorena S, Hivroz C.

J Immunol. 2006 Sep 15;177(6):3625-34.

15.

Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease.

Chapgier A, Boisson-Dupuis S, Jouanguy E, Vogt G, Feinberg J, Prochnicka-Chalufour A, Casrouge A, Yang K, Soudais C, Fieschi C, Santos OF, Bustamante J, Picard C, de Beaucoudrey L, Emile JF, Arkwright PD, Schreiber RD, Rolinck-Werninghaus C, Rösen-Wolff A, Magdorf K, Roesler J, Casanova JL.

PLoS Genet. 2006 Aug 18;2(8):e131.

16.

X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production.

Filipe-Santos O, Bustamante J, Haverkamp MH, Vinolo E, Ku CL, Puel A, Frucht DM, Christel K, von Bernuth H, Jouanguy E, Feinberg J, Durandy A, Senechal B, Chapgier A, Vogt G, de Beaucoudrey L, Fieschi C, Picard C, Garfa M, Chemli J, Bejaoui M, Tsolia MN, Kutukculer N, Plebani A, Notarangelo L, Bodemer C, Geissmann F, Israël A, Véron M, Knackstedt M, Barbouche R, Abel L, Magdorf K, Gendrel D, Agou F, Holland SM, Casanova JL.

J Exp Med. 2006 Jul 10;203(7):1745-59. Epub 2006 Jul 3.

17.

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.

Am J Hum Genet. 2006 Apr;78(4):691-701. Epub 2006 Feb 15.

18.

Complete deficiency of the IL-12 receptor beta1 chain: three unrelated Turkish children with unusual clinical features.

Tanir G, Dogu F, Tuygun N, Ikinciogullari A, Aytekin C, Aydemir C, Yuksek M, Boduroglu EC, de Beaucoudrey L, Fieschi C, Feinberg J, Casanova JL, Babacan E.

Eur J Pediatr. 2006 Jun;165(6):415-7. Epub 2006 Feb 24. No abstract available.

PMID:
16501992
19.

Inherited disorders of the IL-12-IFN-gamma axis in patients with disseminated BCG infection.

Mansouri D, Adimi P, Mirsaeidi M, Mansouri N, Khalilzadeh S, Masjedi MR, Adimi P, Tabarsi P, Naderi M, Filipe-Santos O, Vogt G, de Beaucoudrey L, Bustamante J, Chapgier A, Feinberg J, Velayati AA, Casanova JL.

Eur J Pediatr. 2005 Dec;164(12):753-7. Epub 2005 Aug 10.

PMID:
16091917
20.

Paracoccidioides brasiliensis disseminated disease in a patient with inherited deficiency in the beta1 subunit of the interleukin (IL)-12/IL-23 receptor.

Moraes-Vasconcelos Dd, Grumach AS, Yamaguti A, Andrade ME, Fieschi C, de Beaucoudrey L, Casanova JL, Duarte AJ.

Clin Infect Dis. 2005 Aug 15;41(4):e31-7. Epub 2005 Jul 15.

PMID:
16028144
21.

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.

Nat Genet. 2005 Jul;37(7):692-700. Epub 2005 May 29.

PMID:
15924140
22.

Interleukin-12 receptor beta 1 chain deficiency in a child with disseminated tuberculosis.

Ozbek N, Fieschi C, Yilmaz BT, de Beaucoudrey L, Demirhan B, Feinberg J, Bikmaz YE, Casanova JL.

Clin Infect Dis. 2005 Mar 15;40(6):e55-8. Epub 2005 Feb 17.

PMID:
15736007
23.

Bacillus Calmette Guerin triggers the IL-12/IFN-gamma axis by an IRAK-4- and NEMO-dependent, non-cognate interaction between monocytes, NK, and T lymphocytes.

Feinberg J, Fieschi C, Doffinger R, Feinberg M, Leclerc T, Boisson-Dupuis S, Picard C, Bustamante J, Chapgier A, Filipe-Santos O, Ku CL, de Beaucoudrey L, Reichenbach J, Antoni G, Baldé R, Alcaïs A, Casanova JL.

Eur J Immunol. 2004 Nov;34(11):3276-84.

24.

A novel form of complete IL-12/IL-23 receptor beta1 deficiency with cell surface-expressed nonfunctional receptors.

Fieschi C, Bosticardo M, de Beaucoudrey L, Boisson-Dupuis S, Feinberg J, Santos OF, Bustamante J, Levy J, Candotti F, Casanova JL.

Blood. 2004 Oct 1;104(7):2095-101. Epub 2004 Jun 3.

PMID:
15178580

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