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Items: 41

1.

Successful in utero stem cell transplantation in X-linked severe combined immunodeficiency.

Magnani A, Jouannic JM, Rosain J, Gabrion A, Touzot F, Roudaut C, Kracker S, Mahlaoui N, Toubert A, Clave E, Macintyre EA, Radford-Weiss I, Alcantara M, Magrin E, Ternaux B, Nisoy J, Caccavelli L, Darras AM, Picard C, Blanche S, Cavazzana M.

Blood Adv. 2019 Feb 12;3(3):237-241. doi: 10.1182/bloodadvances.2018023176. No abstract available.

2.

Loss of ARHGEF1 causes a human primary antibody deficiency.

Bouafia A, Lofek S, Bruneau J, Chentout L, Lamrini H, Trinquand A, Deau MC, Heurtier L, Meignin V, Picard C, Macintyre E, Alibeu O, Bras M, Molina TJ, Cavazzana M, André-Schmutz I, Durandy A, Fischer A, Oksenhendler E, Kracker S.

J Clin Invest. 2019 Mar 1;129(3):1047-1060. doi: 10.1172/JCI120572. Epub 2019 Feb 4.

3.

Comment on: 'Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors' by Giannelou et al: mutations in TRNT1 result in a constitutive activation of type I interferon signalling.

Frémond ML, Melki I, Kracker S, Bondet V, Duffy D, Rice GI, Crow YJ, Bader-Meunier B.

Ann Rheum Dis. 2019 Aug;78(8):e86. doi: 10.1136/annrheumdis-2018-213745. Epub 2018 Jun 1. No abstract available.

PMID:
29858171
4.

Hematopoietic stem cell transplantation for progressive combined immunodeficiency and lymphoproliferation in patients with activated phosphatidylinositol-3-OH kinase δ syndrome type 1.

Okano T, Imai K, Tsujita Y, Mitsuiki N, Yoshida K, Kamae C, Honma K, Mitsui-Sekinaka K, Sekinaka Y, Kato T, Hanabusa K, Endo E, Takashima T, Hiroki H, Yeh TW, Tanaka K, Nagahori M, Tsuge I, Bando Y, Iwasaki F, Shikama Y, Inoue M, Kimoto T, Moriguchi N, Yuza Y, Kaneko T, Suzuki K, Matsubara T, Maruo Y, Kunitsu T, Waragai T, Sano H, Hashimoto Y, Tasaki K, Suzuki O, Shirakawa T, Kato M, Uchiyama T, Ishimura M, Tauchi T, Yagasaki H, Jou ST, Yu HH, Kanegane H, Kracker S, Durandy A, Kojima D, Muramatsu H, Wada T, Inoue Y, Takada H, Kojima S, Ogawa S, Ohara O, Nonoyama S, Morio T.

J Allergy Clin Immunol. 2019 Jan;143(1):266-275. doi: 10.1016/j.jaci.2018.04.032. Epub 2018 May 18.

PMID:
29778502
5.

Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry.

Maccari ME, Abolhassani H, Aghamohammadi A, Aiuti A, Aleinikova O, Bangs C, Baris S, Barzaghi F, Baxendale H, Buckland M, Burns SO, Cancrini C, Cant A, Cathébras P, Cavazzana M, Chandra A, Conti F, Coulter T, Devlin LA, Edgar JDM, Faust S, Fischer A, Garcia-Prat M, Hammarström L, Heeg M, Jolles S, Karakoc-Aydiner E, Kindle G, Kiykim A, Kumararatne D, Grimbacher B, Longhurst H, Mahlaoui N, Milota T, Moreira F, Moshous D, Mukhina A, Neth O, Neven B, Nieters A, Olbrich P, Ozen A, Pachlopnik Schmid J, Picard C, Prader S, Rae W, Reichenbach J, Rusch S, Savic S, Scarselli A, Scheible R, Sediva A, Sharapova SO, Shcherbina A, Slatter M, Soler-Palacin P, Stanislas A, Suarez F, Tucci F, Uhlmann A, van Montfrans J, Warnatz K, Williams AP, Wood P, Kracker S, Condliffe AM, Ehl S.

Front Immunol. 2018 Mar 16;9:543. doi: 10.3389/fimmu.2018.00543. eCollection 2018.

6.

IgG1 Is Required for Optimal Protection after Immunization with the Purified Porin OmpD from Salmonella Typhimurium.

Zhang Y, Dominguez-Medina C, Cumley NJ, Heath JN, Essex SJ, Bobat S, Schager A, Goodall M, Kracker S, Buckley CD, May RC, Kingsley RA, MacLennan CA, López-Macías C, Cunningham AF, Toellner KM.

J Immunol. 2017 Dec 15;199(12):4103-4109. doi: 10.4049/jimmunol.1700952. Epub 2017 Nov 10.

7.

Activation-induced cytidine deaminase prevents pro-B cell acute lymphoblastic leukemia by functioning as a negative regulator in Rag1 deficient pro-B cells.

Auer F, Ingenhag D, Pinkert S, Kracker S, Hacein-Bey-Abina S, Cavazzana M, Gombert M, Martin-Lorenzo A, Lin MH, Vicente-Dueñas C, Sánchez-García I, Borkhardt A, Hauer J.

Oncotarget. 2017 Sep 7;8(44):75797-75807. doi: 10.18632/oncotarget.20563. eCollection 2017 Sep 29.

8.

Finding patients using similarity measures in a rare diseases-oriented clinical data warehouse: Dr. Warehouse and the needle in the needle stack.

Garcelon N, Neuraz A, Benoit V, Salomon R, Kracker S, Suarez F, Bahi-Buisson N, Hadj-Rabia S, Fischer A, Munnich A, Burgun A.

J Biomed Inform. 2017 Sep;73:51-61. doi: 10.1016/j.jbi.2017.07.016. Epub 2017 Jul 25.

9.

Mutations in the adaptor-binding domain and associated linker region of p110δ cause Activated PI3K-δ Syndrome 1 (APDS1).

Heurtier L, Lamrini H, Chentout L, Deau MC, Bouafia A, Rosain J, Plaza JM, Parisot M, Dumont B, Turpin D, Merlin E, Moshous D, Aladjidi N, Neven B, Picard C, Cavazzana M, Fischer A, Durandy A, Stephan JL, Kracker S.

Haematologica. 2017 Jul;102(7):e278-e281. doi: 10.3324/haematol.2017.167601. Epub 2017 Apr 20. No abstract available.

10.

Mouse model for acute Epstein-Barr virus infection.

Wirtz T, Weber T, Kracker S, Sommermann T, Rajewsky K, Yasuda T.

Proc Natl Acad Sci U S A. 2016 Nov 29;113(48):13821-13826. Epub 2016 Nov 16.

11.

Decreased somatic hypermutation induces an impaired peripheral B cell tolerance checkpoint.

Cantaert T, Schickel JN, Bannock JM, Ng YS, Massad C, Delmotte FR, Yamakawa N, Glauzy S, Chamberlain N, Kinnunen T, Menard L, Lavoie A, Walter JE, Notarangelo LD, Bruneau J, Al-Herz W, Kilic SS, Ochs HD, Cunningham-Rundles C, van der Burg M, Kuijpers TW, Kracker S, Kaneko H, Sekinaka Y, Nonoyama S, Durandy A, Meffre E.

J Clin Invest. 2016 Nov 1;126(11):4289-4302. doi: 10.1172/JCI84645. Epub 2016 Oct 4.

12.

Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study.

Coulter TI, Chandra A, Bacon CM, Babar J, Curtis J, Screaton N, Goodlad JR, Farmer G, Steele CL, Leahy TR, Doffinger R, Baxendale H, Bernatoniene J, Edgar JD, Longhurst HJ, Ehl S, Speckmann C, Grimbacher B, Sediva A, Milota T, Faust SN, Williams AP, Hayman G, Kucuk ZY, Hague R, French P, Brooker R, Forsyth P, Herriot R, Cancrini C, Palma P, Ariganello P, Conlon N, Feighery C, Gavin PJ, Jones A, Imai K, Ibrahim MA, Markelj G, Abinun M, Rieux-Laucat F, Latour S, Pellier I, Fischer A, Touzot F, Casanova JL, Durandy A, Burns SO, Savic S, Kumararatne DS, Moshous D, Kracker S, Vanhaesebroeck B, Okkenhaug K, Picard C, Nejentsev S, Condliffe AM, Cant AJ.

J Allergy Clin Immunol. 2017 Feb;139(2):597-606.e4. doi: 10.1016/j.jaci.2016.06.021. Epub 2016 Jul 16.

13.

X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene.

Lagresle-Peyrou C, Luce S, Ouchani F, Soheili TS, Sadek H, Chouteau M, Durand A, Pic I, Majewski J, Brouzes C, Lambert N, Bohineust A, Verhoeyen E, Cosset FL, Magerus-Chatinet A, Rieux-Laucat F, Gandemer V, Monnier D, Heijmans C, van Gijn M, Dalm VA, Mahlaoui N, Stephan JL, Picard C, Durandy A, Kracker S, Hivroz C, Jabado N, de Saint Basile G, Fischer A, Cavazzana M, André-Schmutz I.

J Allergy Clin Immunol. 2016 Dec;138(6):1681-1689.e8. doi: 10.1016/j.jaci.2016.04.032. Epub 2016 Jun 4.

PMID:
27405666
14.

Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study.

Elkaim E, Neven B, Bruneau J, Mitsui-Sekinaka K, Stanislas A, Heurtier L, Lucas CL, Matthews H, Deau MC, Sharapova S, Curtis J, Reichenbach J, Glastre C, Parry DA, Arumugakani G, McDermott E, Kilic SS, Yamashita M, Moshous D, Lamrini H, Otremba B, Gennery A, Coulter T, Quinti I, Stephan JL, Lougaris V, Brodszki N, Barlogis V, Asano T, Galicier L, Boutboul D, Nonoyama S, Cant A, Imai K, Picard C, Nejentsev S, Molina TJ, Lenardo M, Savic S, Cavazzana M, Fischer A, Durandy A, Kracker S.

J Allergy Clin Immunol. 2016 Jul;138(1):210-218.e9. doi: 10.1016/j.jaci.2016.03.022. Epub 2016 Apr 21.

15.

Hyper-activated PI3K-δ in immunodeficiency.

Heurtier L, Deau MC, Kracker S.

Oncotarget. 2015 Jul 30;6(21):18242-3. No abstract available.

16.

Early-onset hypogammaglobulinemia: A survey of 44 patients.

Brignier AC, Mahlaoui N, Reimann C, Picard C, Kracker S, de Vergnes N, Rieux-Laucat F, Frange P, Suarez F, Neven B, Masseau A, Aladjidi N, Donadieu J, Corby A, Bienvenu B, Cony-Makhoul P, Fischer A, Cavazzana M, Durandy A.

J Allergy Clin Immunol. 2015 Oct;136(4):1097-9.e2. doi: 10.1016/j.jaci.2015.03.038. Epub 2015 May 8. No abstract available.

PMID:
25959671
17.

Mild B-cell lymphocytosis in patients with a CARD11 C49Y mutation.

Buchbinder D, Stinson JR, Nugent DJ, Heurtier L, Suarez F, Sukumar G, Dalgard CL, Masson C, Parisot M, Zhang Y, Matthews HF, Su HC, Durandy A, Fischer A, Kracker S, Snow AL.

J Allergy Clin Immunol. 2015 Sep;136(3):819-821.e1. doi: 10.1016/j.jaci.2015.03.008. Epub 2015 Apr 28. No abstract available.

18.

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.

19.

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.

20.

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. Erratum in: J Clin Invest. 2015 Apr;125(4):1764-5.

21.

Occurrence of B-cell lymphomas in patients with activated phosphoinositide 3-kinase δ syndrome.

Kracker S, Curtis J, Ibrahim MA, Sediva A, Salisbury J, Campr V, Debré M, Edgar JD, Imai K, Picard C, Casanova JL, Fischer A, Nejentsev S, Durandy A.

J Allergy Clin Immunol. 2014 Jul;134(1):233-6. doi: 10.1016/j.jaci.2014.02.020. Epub 2014 Apr 1. No abstract available.

22.

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.

23.

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.

24.

Primary antibody deficiencies.

Durandy A, Kracker S, Fischer A.

Nat Rev Immunol. 2013 Jul;13(7):519-33. doi: 10.1038/nri3466. Epub 2013 Jun 14. Review.

PMID:
23765059
25.

ICD implantation without intraoperative testing does not increase the rate of system modifications and does not impair defibrillation efficacy tested in follow-up.

Bastian D, Kracker S, Pauschinger M, Göhl K.

Herzschrittmacherther Elektrophysiol. 2013 Jun;24(2):125-30. doi: 10.1007/s00399-013-0267-5. Epub 2013 Jun 7.

PMID:
23744101
26.

Blood CD4+CD45RO+CXCR5+ T cells are decreased but partially functional in signal transducer and activator of transcription 3 deficiency.

Mazerolles F, Picard C, Kracker S, Fischer A, Durandy A.

J Allergy Clin Immunol. 2013 Apr;131(4):1146-56, 1156.e1-5. doi: 10.1016/j.jaci.2012.12.1519. Epub 2013 Feb 10.

PMID:
23403044
27.

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.

28.

Immunoglobulin class-switch recombination deficiencies.

Durandy A, Kracker S.

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

29.

DNA polymerase ζ generates tandem mutations in immunoglobulin variable regions.

Saribasak H, Maul RW, Cao Z, Yang WW, Schenten D, Kracker S, Gearhart PJ.

J Exp Med. 2012 Jun 4;209(6):1075-81. doi: 10.1084/jem.20112234. Epub 2012 May 21.

30.

Immune surveillance and therapy of lymphomas driven by Epstein-Barr virus protein LMP1 in a mouse model.

Zhang B, Kracker S, Yasuda T, Casola S, Vanneman M, Hömig-Hölzel C, Wang Z, Derudder E, Li S, Chakraborty T, Cotter SE, Koyama S, Currie T, Freeman GJ, Kutok JL, Rodig SJ, Dranoff G, Rajewsky K.

Cell. 2012 Feb 17;148(4):739-51. doi: 10.1016/j.cell.2011.12.031.

31.

Human MSH6 deficiency is associated with impaired antibody maturation.

Gardès P, Forveille M, Alyanakian MA, Aucouturier P, Ilencikova D, Leroux D, Rahner N, Mazerolles F, Fischer A, Kracker S, Durandy A.

J Immunol. 2012 Feb 15;188(4):2023-9. doi: 10.4049/jimmunol.1102984. Epub 2012 Jan 16.

32.

Loss of p19Arf in a Rag1(-/-) B-cell precursor population initiates acute B-lymphoblastic leukemia.

Hauer J, Mullighan C, Morillon E, Wang G, Bruneau J, Brousse N, Lelorc'h M, Romana S, Boudil A, Tiedau D, Kracker S, Bushmann FD, Borkhardt A, Fischer A, Hacein-Bey-Abina S, Cavazzana-Calvo M.

Blood. 2011 Jul 21;118(3):544-53. doi: 10.1182/blood-2010-09-305383. Epub 2011 May 26.

33.

Connection between induction of DNA lesions and DNA recombination/repair during Ig class switch recombination.

Kracker S, Durandy A.

Cell Cycle. 2011 May 1;10(9):1335-6. doi: 10.4161/cc.10.9.15290. Epub 2011 Mar 11. No abstract available.

PMID:
21393994
34.

Insights into the B cell specific process of immunoglobulin class switch recombination.

Kracker S, Durandy A.

Immunol Lett. 2011 Aug 30;138(2):97-103. doi: 10.1016/j.imlet.2011.02.004. Epub 2011 Feb 13. Review.

PMID:
21324342
35.

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.

36.

Inherited defects of immunoglobulin class switch recombination.

Kracker S, Gardës P, Durandy A.

Adv Exp Med Biol. 2010;685:166-74. Review.

PMID:
20687504
37.

Immunoglobulin class switch recombination deficiencies.

Kracker S, Gardes P, Mazerolles F, Durandy A.

Clin Immunol. 2010 May;135(2):193-203. doi: 10.1016/j.clim.2010.01.012. Epub 2010 Feb 18. Review.

PMID:
20167540
38.

Pol zeta ablation in B cells impairs the germinal center reaction, class switch recombination, DNA break repair, and genome stability.

Schenten D, Kracker S, Esposito G, Franco S, Klein U, Murphy M, Alt FW, Rajewsky K.

J Exp Med. 2009 Feb 16;206(2):477-90. doi: 10.1084/jem.20080669. Epub 2009 Feb 9.

39.

Nibrin functions in Ig class-switch recombination.

Kracker S, Bergmann Y, Demuth I, Frappart PO, Hildebrand G, Christine R, Wang ZQ, Sperling K, Digweed M, Radbruch A.

Proc Natl Acad Sci U S A. 2005 Feb 1;102(5):1584-9. Epub 2005 Jan 24.

40.

Immunoglobulin class switching: in vitro induction and analysis.

Kracker S, Radbruch A.

Methods Mol Biol. 2004;271:149-59.

PMID:
15146119
41.

Effect of the atrial blanking time on the detection of atrial fibrillation in dual chamber pacing.

Nowak B, Kracker S, Rippin G, Horstick G, Vincent A, Geil S, Himmrich E, Meyer J.

Pacing Clin Electrophysiol. 2001 Apr;24(4 Pt 1):496-9.

PMID:
11341088

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