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Results: 1 to 20 of 46

1.

A human immunodeficiency caused by mutations in the PIK3R1 gene.

Deau MC, Heurtier L, Frange P, Suarez F, Bole-Feysot C, Nitschke P, Cavazzana M, Picard C, Durandy A, Fischer A, Kracker S.

J Clin Invest. 2015 Apr;125(4):1764-5. doi: 10.1172/JCI81746. Epub 2015 Apr 1. No abstract available.

2.

An inherited immunoglobulin class-switch recombination deficiency associated with a defect in the INO80 chromatin remodeling complex.

Kracker S, Di Virgilio M, Schwartzentruber J, Cuenin C, Forveille M, Deau MC, McBride KM, Majewski J, Gazumyan A, Seneviratne S, Grimbacher B, Kutukculer N, Herceg Z, Cavazzana M, Jabado N, Nussenzweig MC, Fischer A, Durandy A.

J Allergy Clin Immunol. 2015 Apr;135(4):998-1007.e6. doi: 10.1016/j.jaci.2014.08.030. Epub 2014 Oct 11.

3.

A human immunodeficiency caused by mutations in the PIK3R1 gene.

Deau MC, Heurtier L, Frange P, Suarez F, Bole-Feysot C, Nitschke P, Cavazzana M, Picard C, Durandy A, Fischer A, Kracker S.

J Clin Invest. 2014 Sep;124(9):3923-8. doi: 10.1172/JCI75746. Epub 2014 Aug 18.

4.

Activation induced deaminase C-terminal domain links DNA breaks to end protection and repair during class switch recombination.

Zahn A, Eranki AK, Patenaude AM, Methot SP, Fifield H, Cortizas EM, Foster P, Imai K, Durandy A, Larijani M, Verdun RE, Di Noia JM.

Proc Natl Acad Sci U S A. 2014 Mar 18;111(11):E988-97. doi: 10.1073/pnas.1320486111. Epub 2014 Mar 3.

5.

Naive and memory human B cells have distinct requirements for STAT3 activation to differentiate into antibody-secreting plasma cells.

Deenick EK, Avery DT, Chan A, Berglund LJ, Ives ML, Moens L, Stoddard JL, Bustamante J, Boisson-Dupuis S, Tsumura M, Kobayashi M, Arkwright PD, Averbuch D, Engelhard D, Roesler J, Peake J, Wong M, Adelstein S, Choo S, Smart JM, French MA, Fulcher DA, Cook MC, Picard C, Durandy A, Klein C, Holland SM, Uzel G, Casanova JL, Ma CS, Tangye SG.

J Exp Med. 2013 Nov 18;210(12):2739-53. doi: 10.1084/jem.20130323. Epub 2013 Nov 11.

6.

IL-21 signalling via STAT3 primes human naive B cells to respond to IL-2 to enhance their differentiation into plasmablasts.

Berglund LJ, Avery DT, Ma CS, Moens L, Deenick EK, Bustamante J, Boisson-Dupuis S, Wong M, Adelstein S, Arkwright PD, Bacchetta R, Bezrodnik L, Dadi H, Roifman CM, Fulcher DA, Ziegler JB, Smart JM, Kobayashi M, Picard C, Durandy A, Cook MC, Casanova JL, Uzel G, Tangye SG.

Blood. 2013 Dec 5;122(24):3940-50. doi: 10.1182/blood-2013-06-506865. Epub 2013 Oct 24.

7.

A regulatory role for the cohesin loader NIPBL in nonhomologous end joining during immunoglobulin class switch recombination.

Enervald E, Du L, Visnes T, Björkman A, Lindgren E, Wincent J, Borck G, Colleaux L, Cormier-Daire V, van Gent DC, Pie J, Puisac B, de Miranda NF, Kracker S, Hammarström L, de Villartay JP, Durandy A, Schoumans J, Ström L, Pan-Hammarström Q.

J Exp Med. 2013 Nov 18;210(12):2503-13. doi: 10.1084/jem.20130168. Epub 2013 Oct 21.

8.

Phosphoinositide 3-kinase δ gene mutation predisposes to respiratory infection and airway damage.

Angulo I, Vadas O, Garçon F, Banham-Hall E, Plagnol V, Leahy TR, Baxendale H, Coulter T, Curtis J, Wu C, Blake-Palmer K, Perisic O, Smyth D, Maes M, Fiddler C, Juss J, Cilliers D, Markelj G, Chandra A, Farmer G, Kielkowska A, Clark J, Kracker S, Debré M, Picard C, Pellier I, Jabado N, Morris JA, Barcenas-Morales G, Fischer A, Stephens L, Hawkins P, Barrett JC, Abinun M, Clatworthy M, Durandy A, Doffinger R, Chilvers ER, Cant AJ, Kumararatne D, Okkenhaug K, Williams RL, Condliffe A, Nejentsev S.

Science. 2013 Nov 15;342(6160):866-71. doi: 10.1126/science.1243292. Epub 2013 Oct 17.

9.

Signal transducer and activator of transcription 3 (STAT3) mutations underlying autosomal dominant hyper-IgE syndrome impair human CD8(+) T-cell memory formation and function.

Ives ML, Ma CS, Palendira U, Chan A, Bustamante J, Boisson-Dupuis S, Arkwright PD, Engelhard D, Averbuch D, Magdorf K, Roesler J, Peake J, Wong M, Adelstein S, Choo S, Smart JM, French MA, Fulcher DA, Cook MC, Picard C, Durandy A, Tsumura M, Kobayashi M, Uzel G, Casanova JL, Tangye SG, Deenick EK.

J Allergy Clin Immunol. 2013 Aug;132(2):400-11.e9. doi: 10.1016/j.jaci.2013.05.029. Epub 2013 Jul 4.

10.

Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome").

Pachlopnik Schmid J, Lemoine R, Nehme N, Cormier-Daire V, Revy P, Debeurme F, Debré M, Nitschke P, Bole-Feysot C, Legeai-Mallet L, Lim A, de Villartay JP, Picard C, Durandy A, Fischer A, de Saint Basile G.

J Exp Med. 2012 Dec 17;209(13):2323-30. doi: 10.1084/jem.20121303. Epub 2012 Dec 10.

11.

Potential roles of activation-induced cytidine deaminase in promotion or prevention of autoimmunity in humans.

Durandy A, Cantaert T, Kracker S, Meffre E.

Autoimmunity. 2013 Mar;46(2):148-56. doi: 10.3109/08916934.2012.750299. Epub 2013 Jan 10. Review.

12.

Immunoglobulin class-switch recombination deficiencies.

Durandy A, Kracker S.

Arthritis Res Ther. 2012 Jul 30;14(4):218. doi: 10.1186/ar3904.

13.

Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey.

Chandesris MO, Melki I, Natividad A, Puel A, Fieschi C, Yun L, Thumerelle C, Oksenhendler E, Boutboul D, Thomas C, Hoarau C, Lebranchu Y, Stephan JL, Cazorla C, Aladjidi N, Micheau M, Tron F, Baruchel A, Barlogis V, Palenzuela G, Mathey C, Dominique S, Body G, Munzer M, Fouyssac F, Jaussaud R, Bader-Meunier B, Mahlaoui N, Blanche S, Debré M, Le Bourgeois M, Gandemer V, Lambert N, Grandin V, Ndaga S, Jacques C, Harre C, Forveille M, Alyanakian MA, Durandy A, Bodemer C, Suarez F, Hermine O, Lortholary O, Casanova JL, Fischer A, Picard C.

Medicine (Baltimore). 2012 Jul;91(4):e1-19. doi: 10.1097/MD.0b013e31825f95b9.

14.

Cernunnos influences human immunoglobulin class switch recombination and may be associated with B cell lymphomagenesis.

Du L, Peng R, Björkman A, Filipe de Miranda N, Rosner C, Kotnis A, Berglund M, Liu C, Rosenquist R, Enblad G, Sundström C, Hojjat-Farsangi M, Rabbani H, Teixeira MR, Revy P, Durandy A, Zeng Y, Gennery AR, de Villartay JP, Pan-Hammarström Q.

J Exp Med. 2012 Feb 13;209(2):291-305. doi: 10.1084/jem.20110325. Epub 2012 Feb 6.

15.

RANK-dependent autosomal recessive osteopetrosis: characterization of five new cases with novel mutations.

Pangrazio A, Cassani B, Guerrini MM, Crockett JC, Marrella V, Zammataro L, Strina D, Schulz A, Schlack C, Kornak U, Mellis DJ, Duthie A, Helfrich MH, Durandy A, Moshous D, Vellodi A, Chiesa R, Veys P, Lo Iacono N, Vezzoni P, Fischer A, Villa A, Sobacchi C.

J Bone Miner Res. 2012 Feb;27(2):342-51. doi: 10.1002/jbmr.559.

16.

Activation-induced cytidine deaminase (AID) is required for B-cell tolerance in humans.

Meyers G, Ng YS, Bannock JM, Lavoie A, Walter JE, Notarangelo LD, Kilic SS, Aksu G, Debré M, Rieux-Laucat F, Conley ME, Cunningham-Rundles C, Durandy A, Meffre E.

Proc Natl Acad Sci U S A. 2011 Jul 12;108(28):11554-9. doi: 10.1073/pnas.1102600108. Epub 2011 Jun 23.

17.

Impaired induction of DNA lesions during immunoglobulin class-switch recombination in humans influences end-joining repair.

Kracker S, Imai K, Gardès P, Ochs HD, Fischer A, Durandy AH.

Proc Natl Acad Sci U S A. 2010 Dec 21;107(51):22225-30. doi: 10.1073/pnas.1012591108. Epub 2010 Dec 6.

18.

Human TRAF3 adaptor molecule deficiency leads to impaired Toll-like receptor 3 response and susceptibility to herpes simplex encephalitis.

Pérez de Diego R, Sancho-Shimizu V, Lorenzo L, Puel A, Plancoulaine S, Picard C, Herman M, Cardon A, Durandy A, Bustamante J, Vallabhapurapu S, Bravo J, Warnatz K, Chaix Y, Cascarrigny F, Lebon P, Rozenberg F, Karin M, Tardieu M, Al-Muhsen S, Jouanguy E, Zhang SY, Abel L, Casanova JL.

Immunity. 2010 Sep 24;33(3):400-11. doi: 10.1016/j.immuni.2010.08.014. Epub 2010 Sep 9.

19.

Efficacy of gene therapy for X-linked severe combined immunodeficiency.

Hacein-Bey-Abina S, Hauer J, Lim A, Picard C, Wang GP, Berry CC, Martinache C, Rieux-Laucat F, Latour S, Belohradsky BH, Leiva L, Sorensen R, Debré M, Casanova JL, Blanche S, Durandy A, Bushman FD, Fischer A, Cavazzana-Calvo M.

N Engl J Med. 2010 Jul 22;363(4):355-64. doi: 10.1056/NEJMoa1000164.

20.

Function of Apollo (SNM1B) at telomere highlighted by a splice variant identified in a patient with Hoyeraal-Hreidarsson syndrome.

Touzot F, Callebaut I, Soulier J, Gaillard L, Azerrad C, Durandy A, Fischer A, de Villartay JP, Revy P.

Proc Natl Acad Sci U S A. 2010 Jun 1;107(22):10097-102. doi: 10.1073/pnas.0914918107. Epub 2010 May 17.

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