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Items: 1 to 50 of 154

1.

Efficacy and Adverse Events During Janus Kinase Inhibitor Treatment of SAVI Syndrome.

Volpi S, Insalaco A, Caorsi R, Santori E, Messia V, Sacco O, Terheggen-Lagro S, Cardinale F, Scarselli A, Pastorino C, Moneta G, Cangemi G, Passarelli C, Ricci M, Girosi D, Derchi M, Bocca P, Diociaiuti A, El Hachem M, Cancrini C, Tomà P, Granata C, Ravelli A, Candotti F, Picco P, DeBenedetti F, Gattorno M.

J Clin Immunol. 2019 Jul;39(5):476-485. doi: 10.1007/s10875-019-00645-0. Epub 2019 May 29.

PMID:
31144250
2.

Gene therapy for Wiskott-Aldrich syndrome: here to stay.

Candotti F.

Lancet Haematol. 2019 May;6(5):e230-e231. doi: 10.1016/S2352-3026(19)30066-3. Epub 2019 Apr 10. No abstract available.

3.

Clinical Manifestations and Pathophysiological Mechanisms of the Wiskott-Aldrich Syndrome.

Candotti F.

J Clin Immunol. 2018 Jan;38(1):13-27. doi: 10.1007/s10875-017-0453-z. Epub 2017 Oct 30. Review.

PMID:
29086100
4.

[Next generation sequencing : a diagnostic tool for inherited immune defects].

Droz-Georget S, Riccio O, Royer-Bertrand B, Superti-Furga A, Candotti F.

Rev Med Suisse. 2017 Apr 5;13(557):763-766. French.

PMID:
28722367
5.

[Transient hypogammaglobulinemia of infancy].

Bellutti Enders F, Conti F, Candotti F, Angelini F.

Rev Med Suisse. 2017 Apr 5;13(557):739-742. French.

PMID:
28722362
6.

Cytoreductive conditioning intensity predicts clonal diversity in ADA-SCID retroviral gene therapy patients.

Cooper AR, Lill GR, Shaw K, Carbonaro-Sarracino DA, Davila A, Sokolic R, Candotti F, Pellegrini M, Kohn DB.

Blood. 2017 May 11;129(19):2624-2635. doi: 10.1182/blood-2016-12-756734. Epub 2017 Mar 28.

7.

Clinical efficacy of gene-modified stem cells in adenosine deaminase-deficient immunodeficiency.

Shaw KL, Garabedian E, Mishra S, Barman P, Davila A, Carbonaro D, Shupien S, Silvin C, Geiger S, Nowicki B, Smogorzewska EM, Brown B, Wang X, de Oliveira S, Choi Y, Ikeda A, Terrazas D, Fu PY, Yu A, Fernandez BC, Cooper AR, Engel B, Podsakoff G, Balamurugan A, Anderson S, Muul L, Jagadeesh GJ, Kapoor N, Tse J, Moore TB, Purdy K, Rishi R, Mohan K, Skoda-Smith S, Buchbinder D, Abraham RS, Scharenberg A, Yang OO, Cornetta K, Gjertson D, Hershfield M, Sokolic R, Candotti F, Kohn DB.

J Clin Invest. 2017 May 1;127(5):1689-1699. doi: 10.1172/JCI90367. Epub 2017 Mar 27.

8.
9.

FOXP3+ Tregs require WASP to restrain Th2-mediated food allergy.

Lexmond WS, Goettel JA, Lyons JJ, Jacobse J, Deken MM, Lawrence MG, DiMaggio TH, Kotlarz D, Garabedian E, Sackstein P, Nelson CC, Jones N, Stone KD, Candotti F, Rings EH, Thrasher AJ, Milner JD, Snapper SB, Fiebiger E.

J Clin Invest. 2016 Oct 3;126(10):4030-4044. doi: 10.1172/JCI85129. Epub 2016 Sep 19.

10.

Advances of gene therapy for primary immunodeficiencies.

Candotti F.

F1000Res. 2016 Mar 9;5. pii: F1000 Faculty Rev-310. doi: 10.12688/f1000research.7512.1. eCollection 2016. Review.

11.

Type I interferonopathies in pediatric rheumatology.

Volpi S, Picco P, Caorsi R, Candotti F, Gattorno M.

Pediatr Rheumatol Online J. 2016 Jun 4;14(1):35. doi: 10.1186/s12969-016-0094-4. Review.

12.

Impulse oscillometry identifies peripheral airway dysfunction in children with adenosine deaminase deficiency.

Komarow HD, Sokolic R, Hershfield MS, Kohn DB, Young M, Metcalfe DD, Candotti F.

Orphanet J Rare Dis. 2015 Dec 18;10:159. doi: 10.1186/s13023-015-0365-z.

13.

N-WASP is required for B-cell-mediated autoimmunity in Wiskott-Aldrich syndrome.

Volpi S, Santori E, Abernethy K, Mizui M, Dahlberg CI, Recher M, Capuder K, Csizmadia E, Ryan D, Mathew D, Tsokos GC, Snapper S, Westerberg LS, Thrasher AJ, Candotti F, Notarangelo LD.

Blood. 2016 Jan 14;127(2):216-20. doi: 10.1182/blood-2015-05-643817. Epub 2015 Oct 14.

14.

Age-Dependent Defects of Regulatory B Cells in Wiskott-Aldrich Syndrome Gene Knockout Mice.

Yokoyama T, Yoshizaki A, Simon KL, Kirby MR, Anderson SM, Candotti F.

PLoS One. 2015 Oct 8;10(10):e0139729. doi: 10.1371/journal.pone.0139729. eCollection 2015.

15.

Broad spectrum of autoantibodies in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia.

Crestani E, Volpi S, Candotti F, Giliani S, Notarangelo LD, Chu J, Aldave Becerra JC, Buchbinder D, Chou J, Geha RS, Kanariou M, King A, Mazza C, Moratto D, Sokolic R, Garabedian E, Porta F, Putti MC, Wakim RH, Tsitsikov E, Pai SY, Notarangelo LD.

J Allergy Clin Immunol. 2015 Nov;136(5):1401-4.e1-3. doi: 10.1016/j.jaci.2015.08.010. Epub 2015 Sep 26. No abstract available.

16.

Altered BCR and TLR signals promote enhanced positive selection of autoreactive transitional B cells in Wiskott-Aldrich syndrome.

Kolhatkar NS, Brahmandam A, Thouvenel CD, Becker-Herman S, Jacobs HM, Schwartz MA, Allenspach EJ, Khim S, Panigrahi AK, Luning Prak ET, Thrasher AJ, Notarangelo LD, Candotti F, Torgerson TR, Sanz I, Rawlings DJ.

J Exp Med. 2015 Sep 21;212(10):1663-77. doi: 10.1084/jem.20150585. Epub 2015 Sep 14.

17.

Lentiviral-mediated gene therapy restores B cell tolerance in Wiskott-Aldrich syndrome patients.

Pala F, Morbach H, Castiello MC, Schickel JN, Scaramuzza S, Chamberlain N, Cassani B, Glauzy S, Romberg N, Candotti F, Aiuti A, Bosticardo M, Villa A, Meffre E.

J Clin Invest. 2015 Oct 1;125(10):3941-51. doi: 10.1172/JCI82249. Epub 2015 Sep 14.

18.

NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina.

Segarra NG, Ballhausen D, Crawford H, Perreau M, Campos-Xavier B, van Spaendonck-Zwarts K, Vermeer C, Russo M, Zambelli PY, Stevenson B, Royer-Bertrand B, Rivolta C, Candotti F, Unger S, Munier FL, Superti-Furga A, Bonafé L.

Am J Med Genet A. 2015 Dec;167A(12):2902-12. doi: 10.1002/ajmg.a.37338. Epub 2015 Aug 19.

PMID:
26286438
19.

Reticular dysgenesis-associated AK2 protects hematopoietic stem and progenitor cell development from oxidative stress.

Rissone A, Weinacht KG, la Marca G, Bishop K, Giocaliere E, Jagadeesh J, Felgentreff K, Dobbs K, Al-Herz W, Jones M, Chandrasekharappa S, Kirby M, Wincovitch S, Simon KL, Itan Y, DeVine A, Schlaeger T, Schambach A, Sood R, Notarangelo LD, Candotti F.

J Exp Med. 2015 Jul 27;212(8):1185-202. doi: 10.1084/jem.20141286. Epub 2015 Jul 6.

20.

Assessment of Immature Platelet Fraction in the Diagnosis of Wiskott-Aldrich Syndrome.

Sokolic R, Oden N, Candotti F.

Front Pediatr. 2015 Jun 1;3:49. doi: 10.3389/fped.2015.00049. eCollection 2015.

21.

Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations.

Johnston JJ, Lewis KL, Ng D, Singh LN, Wynter J, Brewer C, Brooks BP, Brownell I, Candotti F, Gonsalves SG, Hart SP, Kong HH, Rother KI, Sokolic R, Solomon BD, Zein WM, Cooper DN, Stenson PD, Mullikin JC, Biesecker LG.

Am J Hum Genet. 2015 Jun 4;96(6):913-25. doi: 10.1016/j.ajhg.2015.04.013.

22.

Outcomes in two Japanese adenosine deaminase-deficiency patients treated by stem cell gene therapy with no cytoreductive conditioning.

Otsu M, Yamada M, Nakajima S, Kida M, Maeyama Y, Hatano N, Toita N, Takezaki S, Okura Y, Kobayashi R, Matsumoto Y, Tatsuzawa O, Tsuchida F, Kato S, Kitagawa M, Mineno J, Hershfield MS, Bali P, Candotti F, Onodera M, Kawamura N, Sakiyama Y, Ariga T.

J Clin Immunol. 2015 May;35(4):384-98. doi: 10.1007/s10875-015-0157-1. Epub 2015 Apr 15.

PMID:
25875699
23.

In vitro functional correction of Hermansky-Pudlak Syndrome type-1 by lentiviral-mediated gene transfer.

Ikawa Y, Hess R, Dorward H, Cullinane AR, Huizing M, Gochuico BR, Gahl WA, Candotti F.

Mol Genet Metab. 2015 Jan;114(1):62-5. doi: 10.1016/j.ymgme.2014.11.006. Epub 2014 Nov 12.

24.

Activated STING in a vascular and pulmonary syndrome.

Liu Y, Jesus AA, Marrero B, Yang D, Ramsey SE, Sanchez GAM, Tenbrock K, Wittkowski H, Jones OY, Kuehn HS, Lee CR, DiMattia MA, Cowen EW, Gonzalez B, Palmer I, DiGiovanna JJ, Biancotto A, Kim H, Tsai WL, Trier AM, Huang Y, Stone DL, Hill S, Kim HJ, St Hilaire C, Gurprasad S, Plass N, Chapelle D, Horkayne-Szakaly I, Foell D, Barysenka A, Candotti F, Holland SM, Hughes JD, Mehmet H, Issekutz AC, Raffeld M, McElwee J, Fontana JR, Minniti CP, Moir S, Kastner DL, Gadina M, Steven AC, Wingfield PT, Brooks SR, Rosenzweig SD, Fleisher TA, Deng Z, Boehm M, Paller AS, Goldbach-Mansky R.

N Engl J Med. 2014 Aug 7;371(6):507-518. doi: 10.1056/NEJMoa1312625. Epub 2014 Jul 16.

25.

Actionable diagnosis of neuroleptospirosis by next-generation sequencing.

Wilson MR, Naccache SN, Samayoa E, Biagtan M, Bashir H, Yu G, Salamat SM, Somasekar S, Federman S, Miller S, Sokolic R, Garabedian E, Candotti F, Buckley RH, Reed KD, Meyer TL, Seroogy CM, Galloway R, Henderson SL, Gern JE, DeRisi JL, Chiu CY.

N Engl J Med. 2014 Jun 19;370(25):2408-17. doi: 10.1056/NEJMoa1401268. Epub 2014 Jun 4.

26.

Nuclear role of WASp in gene transcription is uncoupled from its ARP2/3-dependent cytoplasmic role in actin polymerization.

Sadhukhan S, Sarkar K, Taylor M, Candotti F, Vyas YM.

J Immunol. 2014 Jul 1;193(1):150-60. doi: 10.4049/jimmunol.1302923. Epub 2014 May 28.

27.

Early-onset stroke and vasculopathy associated with mutations in ADA2.

Zhou Q, Yang D, Ombrello AK, Zavialov AV, Toro C, Zavialov AV, Stone DL, Chae JJ, Rosenzweig SD, Bishop K, Barron KS, Kuehn HS, Hoffmann P, Negro A, Tsai WL, Cowen EW, Pei W, Milner JD, Silvin C, Heller T, Chin DT, Patronas NJ, Barber JS, Lee CC, Wood GM, Ling A, Kelly SJ, Kleiner DE, Mullikin JC, Ganson NJ, Kong HH, Hambleton S, Candotti F, Quezado MM, Calvo KR, Alao H, Barham BK, Jones A, Meschia JF, Worrall BB, Kasner SE, Rich SS, Goldbach-Mansky R, Abinun M, Chalom E, Gotte AC, Punaro M, Pascual V, Verbsky JW, Torgerson TR, Singer NG, Gershon TR, Ozen S, Karadag O, Fleisher TA, Remmers EF, Burgess SM, Moir SL, Gadina M, Sood R, Hershfield MS, Boehm M, Kastner DL, Aksentijevich I.

N Engl J Med. 2014 Mar 6;370(10):911-20. doi: 10.1056/NEJMoa1307361. Epub 2014 Feb 19.

28.

Gene transfer into hematopoietic stem cells as treatment for primary immunodeficiency diseases.

Candotti F.

Int J Hematol. 2014 Apr;99(4):383-92. doi: 10.1007/s12185-014-1524-z. Epub 2014 Feb 1. Review.

PMID:
24488786
29.

Molecular and phenotypic abnormalities of B lymphocytes in patients with Wiskott-Aldrich syndrome.

Simon KL, Anderson SM, Garabedian EK, Moratto D, Sokolic RA, Candotti F.

J Allergy Clin Immunol. 2014 Mar;133(3):896-9.e4. doi: 10.1016/j.jaci.2013.08.050. Epub 2013 Nov 8. No abstract available.

30.

The altered landscape of the human skin microbiome in patients with primary immunodeficiencies.

Oh J, Freeman AF; NISC Comparative Sequencing Program, Park M, Sokolic R, Candotti F, Holland SM, Segre JA, Kong HH.

Genome Res. 2013 Dec;23(12):2103-14. doi: 10.1101/gr.159467.113. Epub 2013 Oct 29.

31.

Primary Immune Deficiency Treatment Consortium (PIDTC) report.

Griffith LM, Cowan MJ, Notarangelo LD, Kohn DB, Puck JM, Pai SY, Ballard B, Bauer SC, Bleesing JJ, Boyle M, Brower A, Buckley RH, van der Burg M, Burroughs LM, Candotti F, Cant AJ, Chatila T, Cunningham-Rundles C, Dinauer MC, Dvorak CC, Filipovich AH, Fleisher TA, Bobby Gaspar H, Gungor T, Haddad E, Hovermale E, Huang F, Hurley A, Hurley M, Iyengar S, Kang EM, Logan BR, Long-Boyle JR, Malech HL, McGhee SA, Modell F, Modell V, Ochs HD, O'Reilly RJ, Parkman R, Rawlings DJ, Routes JM, Shearer WT, Small TN, Smith H, Sullivan KE, Szabolcs P, Thrasher A, Torgerson TR, Veys P, Weinberg K, Zuniga-Pflucker JC; workshop participants.

J Allergy Clin Immunol. 2014 Feb;133(2):335-47. doi: 10.1016/j.jaci.2013.07.052. Epub 2013 Oct 15.

32.

Gene therapy model of X-linked severe combined immunodeficiency using a modified foamy virus vector.

Horino S, Uchiyama T, So T, Nagashima H, Sun SL, Sato M, Asao A, Haji Y, Sasahara Y, Candotti F, Tsuchiya S, Kure S, Sugamura K, Ishii N.

PLoS One. 2013 Aug 21;8(8):e71594. doi: 10.1371/journal.pone.0071594. eCollection 2013.

33.

Elevated IgE and atopy in patients treated for early-onset ADA-SCID.

Lawrence MG, Barber JS, Sokolic RA, Garabedian EK, Desai AN, O'Brien M, Jones N, Bali P, Hershfield MS, Stone KD, Candotti F, Milner JD.

J Allergy Clin Immunol. 2013 Dec;132(6):1444-6. doi: 10.1016/j.jaci.2013.05.040. Epub 2013 Jul 26. No abstract available.

34.

Peptide library-based evaluation of T-cell receptor breadth detects defects in global and regulatory activation in human immunologic diseases.

Barber JS, Yokomizo LK, Sheikh V, Freeman AF, Garabedian E, van Dijk E, Sokolic R, Candotti F, Weng NP, Sereti I, Milner JD.

Proc Natl Acad Sci U S A. 2013 May 14;110(20):8164-9. doi: 10.1073/pnas.1302103110. Epub 2013 May 1.

35.

Efficient methods for targeted mutagenesis in zebrafish using zinc-finger nucleases: data from targeting of nine genes using CompoZr or CoDA ZFNs.

Sood R, Carrington B, Bishop K, Jones M, Rissone A, Candotti F, Chandrasekharappa SC, Liu P.

PLoS One. 2013;8(2):e57239. doi: 10.1371/journal.pone.0057239. Epub 2013 Feb 22.

36.

Aberrant glycosylation of IgA in Wiskott-Aldrich syndrome and X-linked thrombocytopenia.

Shimizu M, Kanegane H, Wada T, Motoyoshi Y, Morio T, Candotti F, Yachie A.

J Allergy Clin Immunol. 2013 Feb;131(2):587-90.e1-3. doi: 10.1016/j.jaci.2012.08.040. Epub 2012 Oct 26. No abstract available.

37.

A novel function of RNAs arising from the long terminal repeat of human endogenous retrovirus 9 in cell cycle arrest.

Xu L, Elkahloun AG, Candotti F, Grajkowski A, Beaucage SL, Petricoin EF, Calvert V, Juhl H, Mills F, Mason K, Shastri N, Chik J, Xu C, Rosenberg AS.

J Virol. 2013 Jan;87(1):25-36. doi: 10.1128/JVI.01648-12. Epub 2012 Oct 24.

38.

Gene therapy for adenosine deaminase-deficient severe combined immune deficiency: clinical comparison of retroviral vectors and treatment plans.

Candotti F, Shaw KL, Muul L, Carbonaro D, Sokolic R, Choi C, Schurman SH, Garabedian E, Kesserwan C, Jagadeesh GJ, Fu PY, Gschweng E, Cooper A, Tisdale JF, Weinberg KI, Crooks GM, Kapoor N, Shah A, Abdel-Azim H, Yu XJ, Smogorzewska M, Wayne AS, Rosenblatt HM, Davis CM, Hanson C, Rishi RG, Wang X, Gjertson D, Yang OO, Balamurugan A, Bauer G, Ireland JA, Engel BC, Podsakoff GM, Hershfield MS, Blaese RM, Parkman R, Kohn DB.

Blood. 2012 Nov 1;120(18):3635-46. doi: 10.1182/blood-2012-02-400937. Epub 2012 Sep 11.

39.

Platelets from WAS patients show an increased susceptibility to ex vivo phagocytosis.

Prislovsky A, Zeng X, Sokolic RA, Garabedian EN, Anur P, Candotti F, Strom TS.

Platelets. 2013;24(4):288-96. doi: 10.3109/09537104.2012.693991. Epub 2012 Jul 19.

40.

B cell-intrinsic deficiency of the Wiskott-Aldrich syndrome protein (WASp) causes severe abnormalities of the peripheral B-cell compartment in mice.

Recher M, Burns SO, de la Fuente MA, Volpi S, Dahlberg C, Walter JE, Moffitt K, Mathew D, Honke N, Lang PA, Patrizi L, Falet H, Keszei M, Mizui M, Csizmadia E, Candotti F, Nadeau K, Bouma G, Delmonte OM, Frugoni F, Fomin AB, Buchbinder D, Lundequist EM, Massaad MJ, Tsokos GC, Hartwig J, Manis J, Terhorst C, Geha RS, Snapper S, Lang KS, Malley R, Westerberg L, Thrasher AJ, Notarangelo LD.

Blood. 2012 Mar 22;119(12):2819-28. doi: 10.1182/blood-2011-09-379412. Epub 2012 Feb 1.

41.

Foamy virus vector-mediated gene correction of a mouse model of Wiskott-Aldrich syndrome.

Uchiyama T, Adriani M, Jagadeesh GJ, Paine A, Candotti F.

Mol Ther. 2012 Jun;20(6):1270-9. doi: 10.1038/mt.2011.282. Epub 2012 Jan 3.

42.

Multicentric dermatofibrosarcoma protuberans in patients with adenosine deaminase-deficient severe combined immune deficiency.

Kesserwan C, Sokolic R, Cowen EW, Garabedian E, Heselmeyer-Haddad K, Lee CC, Pittaluga S, Ortiz C, Baird K, Lopez-Terrada D, Bridge J, Wayne AS, Candotti F.

J Allergy Clin Immunol. 2012 Mar;129(3):762-769.e1. doi: 10.1016/j.jaci.2011.10.028. Epub 2011 Dec 6.

43.

Development of IgA nephropathy-like glomerulonephritis associated with Wiskott-Aldrich syndrome protein deficiency.

Shimizu M, Nikolov NP, Ueno K, Ohta K, Siegel RM, Yachie A, Candotti F.

Clin Immunol. 2012 Feb;142(2):160-6. doi: 10.1016/j.clim.2011.10.001. Epub 2011 Oct 19.

44.

Measurement of proliferative responses of cultured lymphocytes.

Muul LM, Heine G, Silvin C, James SP, Candotti F, Radbruch A, Worm M.

Curr Protoc Immunol. 2011 Aug;Chapter 7:Unit7.10. doi: 10.1002/0471142735.im0710s94.

PMID:
21809319
45.

Myeloid dysplasia and bone marrow hypocellularity in adenosine deaminase-deficient severe combined immune deficiency.

Sokolic R, Maric I, Kesserwan C, Garabedian E, Hanson IC, Dodds M, Buckley R, Issekutz AC, Kamani N, Shaw K, Tan B, Bali P, Hershfield MS, Kohn DB, Wayne AS, Candotti F.

Blood. 2011 Sep 8;118(10):2688-94. doi: 10.1182/blood-2011-01-329359. Epub 2011 Jul 1. Erratum in: Blood. 2014 Mar 13;123(11):1767.

46.

Somatic mosaicism caused by monoallelic reversion of a mutation in T cells of a patient with ADA-SCID and the effects of enzyme replacement therapy on the revertant phenotype.

Moncada-Vélez M, Vélez-Ortega A, Orrego J, Santisteban I, Jagadeesh J, Olivares M, Olaya N, Hershfield M, Candotti F, Franco J.

Scand J Immunol. 2011 Nov;74(5):471-81. doi: 10.1111/j.1365-3083.2011.02593.x.

47.

Defective inhibition of B-cell proliferation by Wiskott-Aldrich syndrome protein-deficient regulatory T cells.

Adriani M, Jones KA, Uchiyama T, Kirby MR, Silvin C, Anderson SM, Candotti F.

Blood. 2011 Jun 16;117(24):6608-11. doi: 10.1182/blood-2010-12-322834. Epub 2011 Apr 22.

48.

Genetics. Mosaicism--switch or spectrum?

Davis BR, Candotti F.

Science. 2010 Oct 1;330(6000):46-7. doi: 10.1126/science.1195991. No abstract available.

PMID:
20929800
49.

Nuclear role of WASp in the pathogenesis of dysregulated TH1 immunity in human Wiskott-Aldrich syndrome.

Taylor MD, Sadhukhan S, Kottangada P, Ramgopal A, Sarkar K, D'Silva S, Selvakumar A, Candotti F, Vyas YM.

Sci Transl Med. 2010 Jun 23;2(37):37ra44. doi: 10.1126/scitranslmed.3000813.

50.

Systemic autoimmunity and defective Fas ligand secretion in the absence of the Wiskott-Aldrich syndrome protein.

Nikolov NP, Shimizu M, Cleland S, Bailey D, Aoki J, Strom T, Schwartzberg PL, Candotti F, Siegel RM.

Blood. 2010 Aug 5;116(5):740-7. doi: 10.1182/blood-2009-08-237560. Epub 2010 May 10.

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