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Items: 1 to 50 of 221

1.

Locus suicide recombination actively occurs on the functionally rearranged IgH allele in B-cells from inflamed human lymphoid tissues.

Dalloul I, Boyer F, Dalloul Z, Pignarre A, Caron G, Fest T, Chatonnet F, Delaloy C, Durandy A, Jeannet R, Lereclus E, Boutouil H, Aldigier JC, Péron S, Le Noir S, Cook-Moreau J, Cogné M.

PLoS Genet. 2019 Jun 14;15(6):e1007721. doi: 10.1371/journal.pgen.1007721. [Epub ahead of print]

2.

Genotoxic stress increases cytoplasmic mitochondrial DNA editing by human APOBEC3 mutator enzymes at a single cell level.

Mussil B, Suspène R, Caval V, Durandy A, Wain-Hobson S, Vartanian JP.

Sci Rep. 2019 Feb 28;9(1):3109. doi: 10.1038/s41598-019-39245-8.

3.

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.

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.

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.

6.

[Extracorporeal membrane oxygenation in critically ill neonates and children].

Rambaud J, Guilbert J, Guellec I, Jean S, Durandy A, Demoulin M, Amblard A, Carbajal R, Leger PL.

Arch Pediatr. 2017 Jun;24(6):578-586. doi: 10.1016/j.arcped.2017.03.001. Epub 2017 Apr 14. Review. French.

PMID:
28416430
7.

Prognostic value of cerebral tissue oxygen saturation during neonatal extracorporeal membrane oxygenation.

Clair MP, Rambaud J, Flahault A, Guedj R, Guilbert J, Guellec I, Durandy A, Demoulin M, Jean S, Mitanchez D, Chalard F, Sileo C, Carbajal R, Renolleau S, Léger PL.

PLoS One. 2017 Mar 9;12(3):e0172991. doi: 10.1371/journal.pone.0172991. eCollection 2017.

8.

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.

9.

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.

10.

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
11.

Activated PI3-kinase δ Syndrome: Long-term Follow-up after Cord Blood Transplantation.

Ceraulo A, Malcus C, Durandy A, Picard C, Bertrand Y.

J Clin Immunol. 2016 Aug;36(6):544-6. doi: 10.1007/s10875-016-0305-2. Epub 2016 Jun 13. No abstract available.

PMID:
27294376
12.

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.

13.

Activation-Induced Cytidine Deaminase Expression in Human B Cell Precursors Is Essential for Central B Cell Tolerance.

Cantaert T, Schickel JN, Bannock JM, Ng YS, Massad C, Oe T, Wu R, Lavoie A, Walter JE, Notarangelo LD, Al-Herz W, Kilic SS, Ochs HD, Nonoyama S, Durandy A, Meffre E.

Immunity. 2015 Nov 17;43(5):884-95. doi: 10.1016/j.immuni.2015.10.002. Epub 2015 Nov 3.

14.

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
15.

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.

16.

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.

17.

A homozygous PMS2 founder mutation with an attenuated constitutional mismatch repair deficiency phenotype.

Li L, Hamel N, Baker K, McGuffin MJ, Couillard M, Gologan A, Marcus VA, Chodirker B, Chudley A, Stefanovici C, Durandy A, Hegele RA, Feng BJ, Goldgar DE, Zhu J, De Rosa M, Gruber SB, Wimmer K, Young B, Chong G, Tischkowitz MD, Foulkes WD.

J Med Genet. 2015 May;52(5):348-52. doi: 10.1136/jmedgenet-2014-102934. Epub 2015 Feb 17.

PMID:
25691505
18.

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.

19.

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.

20.

The CARD11-BCL10-MALT1 (CBM) signalosome complex: Stepping into the limelight of human primary immunodeficiency.

Turvey SE, Durandy A, Fischer A, Fung SY, Geha RS, Gewies A, Giese T, Greil J, Keller B, McKinnon ML, Neven B, Rozmus J, Ruland J, Snow AL, Stepensky P, Warnatz K.

J Allergy Clin Immunol. 2014 Aug;134(2):276-84. doi: 10.1016/j.jaci.2014.06.015. Review.

21.

Defective anti-polysaccharide response and splenic marginal zone disorganization in ALPS patients.

Neven B, Bruneau J, Stolzenberg MC, Meyts I, Magerus-Chatinet A, Moens L, Lanzarotti N, Weller S, Amiranoff D, Florkin B, Bader-Meunier B, Leverger G, Ferster A, Chantrain C, Blanche S, Picard C, Molina TJ, Brousse N, Durandy A, Rizzi M, Bossuyt X, Fischer A, Rieux-Laucat F.

Blood. 2014 Sep 4;124(10):1597-609. doi: 10.1182/blood-2014-02-553834. Epub 2014 Jun 26.

22.

Analysis of somatic hypermutations in the IgM switch region in human B cells.

Horiuchi K, Imai K, Mitsui-Sekinaka K, Yeh TW, Ochs HD, Durandy A, Nonoyama S.

J Allergy Clin Immunol. 2014 Aug;134(2):411-9. doi: 10.1016/j.jaci.2014.02.043. Epub 2014 May 15.

PMID:
24836470
23.

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.

24.

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.

25.

Class switch recombination process in ataxia telangiectasia patients with elevated serum levels of IgM.

Mohammadinejad P, Abolhassani H, Aghamohammadi A, Pourhamdi S, Ghosh S, Sadeghi B, Nasiri Kalmarzi R, Durandy A, Borkhardt A.

J Immunoassay Immunochem. 2015;36(1):16-26. doi: 10.1080/15321819.2014.891525.

PMID:
24568663
26.

First report of the Hyper-IgM syndrome Registry of the Latin American Society for Immunodeficiencies: novel mutations, unique infections, and outcomes.

Cabral-Marques O, Klaver S, Schimke LF, Ascendino ÉH, Khan TA, Pereira PV, Falcai A, Vargas-Hernández A, Santos-Argumedo L, Bezrodnik L, Moreira I, Seminario G, Di Giovanni D, Raccio AG, Porras O, Weber CW, Ferreira JF, Tavares FS, de Carvalho E, Valente CF, Kuntze G, Galicchio M, King A, Rosário-Filho NA, Grota MB, dos Santos Vilela MM, Di Gesu RS, Lima S, de Souza Moura L, Talesnik E, Mansour E, Roxo-Junior P, Aldave JC, Goudouris E, Pinto-Mariz F, Berrón-Ruiz L, Staines-Boone T, Calderón WO, del Carmen Zarate-Hernández M, Grumach AS, Sorensen R, Durandy A, Torgerson TR, Carvalho BT, Espinosa-Rosales F, Ochs HD, Condino-Neto A.

J Clin Immunol. 2014 Feb;34(2):146-56. doi: 10.1007/s10875-013-9980-4. Epub 2014 Jan 9.

PMID:
24402618
27.

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.

28.

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.

29.

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.

30.

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.

31.

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.

32.

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
33.

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
34.

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.

35.

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.

36.

Primary microcephaly, impaired DNA replication, and genomic instability caused by compound heterozygous ATR mutations.

Mokrani-Benhelli H, Gaillard L, Biasutto P, Le Guen T, Touzot F, Vasquez N, Komatsu J, Conseiller E, Pïcard C, Gluckman E, Francannet C, Fischer A, Durandy A, Soulier J, de Villartay JP, Cavazzana-Calvo M, Revy P.

Hum Mutat. 2013 Feb;34(2):374-84. doi: 10.1002/humu.22245. Epub 2012 Dec 20.

PMID:
23111928
37.

Late-onset combined immune deficiency associated to skin granuloma due to heterozygous compound mutations in RAG1 gene in a 14 years old male.

Sharapova SO, Migas A, Guryanova I, Aleshkevich S, Kletski S, Durandy A, Belevtsev M.

Hum Immunol. 2013 Jan;74(1):18-22. doi: 10.1016/j.humimm.2012.10.010. Epub 2012 Oct 17.

PMID:
23085344
38.

De novo 13q12.3-q14.11 deletion involving BRCA2 gene in a patient with developmental delay, elevated IgM levels, transient ataxia, and cerebellar hypoplasia, mimicking an A-T like phenotype.

Cirillo E, Romano R, Romano A, Giardino G, Durandy A, Nitsch L, Genesio R, Di Gregorio E, Cavalieri S, Abate G, Del Vecchio L, Brusco A, Pignata C.

Am J Med Genet A. 2012 Oct;158A(10):2571-6. doi: 10.1002/ajmg.a.35556. Epub 2012 Aug 17.

39.

Immunoglobulin class-switch recombination deficiencies.

Durandy A, Kracker S.

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

40.

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.

41.

The UNG2 Arg88Cys variant abrogates RPA-mediated recruitment of UNG2 to single-stranded DNA.

Torseth K, Doseth B, Hagen L, Olaisen C, Liabakk NB, Græsmann H, Durandy A, Otterlei M, Krokan HE, Kavli B, Slupphaug G.

DNA Repair (Amst). 2012 Jun 1;11(6):559-69. doi: 10.1016/j.dnarep.2012.03.006. Epub 2012 Apr 20.

PMID:
22521144
42.

Hyper-immunoglobulin M syndrome type 3 with normal CD40 cell surface expression.

Karaca NE, Forveille M, Aksu G, Durandy A, Kutukculer N.

Scand J Immunol. 2012 Jul;76(1):21-5. doi: 10.1111/j.1365-3083.2012.02697.x.

43.

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.

44.

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.

45.

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.

46.

Protective effect of IgM against colonization of the respiratory tract by nontypeable Haemophilus influenzae in patients with hypogammaglobulinemia.

Micol R, Kayal S, Mahlaoui N, Beauté J, Brosselin P, Dudoit Y, Obenga G, Barlogis V, Aladjidi N, Kebaili K, Thomas C, Dulieu F, Monpoux F, Nové-Josserand R, Pellier I, Lambotte O, Salmon A, Masseau A, Galanaud P, Oksenhendler E, Tabone MD, Teira P, Coignard-Biehler H, Lanternier F, Join-Lambert O, Mouillot G, Theodorou I, Lecron JC, Alyanakian MA, Picard C, Blanche S, Hermine O, Suarez F, Debré M, Lecuit M, Lortholary O, Durandy A, Fischer A.

J Allergy Clin Immunol. 2012 Mar;129(3):770-7. doi: 10.1016/j.jaci.2011.09.047. Epub 2011 Dec 6.

PMID:
22153772
47.

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.

48.

Human X-linked variable immunodeficiency caused by a hypomorphic mutation in XIAP in association with a rare polymorphism in CD40LG.

Rigaud S, Lopez-Granados E, Sibéril S, Gloire G, Lambert N, Lenoir C, Synaeve C, Stacey M, Fugger L, Stephan JL, Fischer A, Picard C, Durandy A, Chapel H, Latour S.

Blood. 2011 Jul 14;118(2):252-61. doi: 10.1182/blood-2011-01-328849. Epub 2011 May 4.

49.

A severe form of abetalipoproteinemia caused by new splicing mutations of microsomal triglyceride transfer protein (MTTP).

Pons V, Rolland C, Nauze M, Danjoux M, Gaibelet G, Durandy A, Sassolas A, Lévy E, Tercé F, Collet X, Mas E.

Hum Mutat. 2011 Jul;32(7):751-9. doi: 10.1002/humu.21494. Epub 2011 Jun 14. Erratum in: Hum Mutat. 2011 Oct;32(10):1191-6.

PMID:
21394827
50.

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

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