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Items: 40

1.

Gene Editing in Chronic Granulomatous Disease.

Sweeney CL, Merling RK, De Ravin SS, Choi U, Malech HL.

Methods Mol Biol. 2019;1982:623-665. doi: 10.1007/978-1-4939-9424-3_36.

PMID:
31172498
2.

Lentiviral Gene Therapy Combined with Low-Dose Busulfan in Infants with SCID-X1.

Mamcarz E, Zhou S, Lockey T, Abdelsamed H, Cross SJ, Kang G, Ma Z, Condori J, Dowdy J, Triplett B, Li C, Maron G, Aldave Becerra JC, Church JA, Dokmeci E, Love JT, da Matta Ain AC, van der Watt H, Tang X, Janssen W, Ryu BY, De Ravin SS, Weiss MJ, Youngblood B, Long-Boyle JR, Gottschalk S, Meagher MM, Malech HL, Puck JM, Cowan MJ, Sorrentino BP.

N Engl J Med. 2019 Apr 18;380(16):1525-1534. doi: 10.1056/NEJMoa1815408.

PMID:
30995372
3.

Outcomes and Treatment Strategies for Autoimmunity and Hyperinflammation in Patients with RAG Deficiency.

Farmer JR, Foldvari Z, Ujhazi B, De Ravin SS, Chen K, Bleesing JJH, Schuetz C, Al-Herz W, Abraham RS, Joshi AY, Costa-Carvalho BT, Buchbinder D, Booth C, Reiff A, Ferguson PJ, Aghamohammadi A, Abolhassani H, Puck JM, Adeli M, Cancrini C, Palma P, Bertaina A, Locatelli F, Di Matteo G, Geha RS, Kanariou MG, Lycopoulou L, Tzanoudaki M, Sleasman JW, Parikh S, Pinero G, Fischer BM, Dbaibo G, Unal E, Patiroglu T, Karakukcu M, Al-Saad KK, Dilley MA, Pai SY, Dutmer CM, Gelfand EW, Geier CB, Eibl MM, Wolf HM, Henderson LA, Hazen MM, Bonfim C, Wolska-Kuśnierz B, Butte MJ, Hernandez JD, Nicholas SK, Stepensky P, Chandrakasan S, Miano M, Westermann-Clark E, Goda V, Kriván G, Holland SM, Fadugba O, Henrickson SE, Ozen A, Karakoc-Aydiner E, Baris S, Kiykim A, Bredius R, Hoeger B, Boztug K, Pashchenko O, Neven B, Moshous D, Villartay JP, Bousfiha AA, Hill HR, Notarangelo LD, Walter JE.

J Allergy Clin Immunol Pract. 2019 Jul - Aug;7(6):1970-1985.e4. doi: 10.1016/j.jaip.2019.02.038. Epub 2019 Mar 12.

4.

NCF1 (p47phox)-deficient chronic granulomatous disease: comprehensive genetic and flow cytometric analysis.

Kuhns DB, Hsu AP, Sun D, Lau K, Fink D, Griffith P, Huang DW, Priel DAL, Mendez L, Kreuzburg S, Zerbe CS, De Ravin SS, Malech HL, Holland SM, Wu X, Gallin JI.

Blood Adv. 2019 Jan 22;3(2):136-147. doi: 10.1182/bloodadvances.2018023184.

5.

Gene-edited pseudogene resurrection corrects p47phox-deficient chronic granulomatous disease.

Merling RK, Kuhns DB, Sweeney CL, Wu X, Burkett S, Chu J, Lee J, Koontz S, Di Pasquale G, Afione SA, Chiorini JA, Kang EM, Choi U, De Ravin SS, Malech HL.

Blood Adv. 2016 Dec 28;1(4):270-278. doi: 10.1182/bloodadvances.2016001214. eCollection 2017 Jan 10.

6.

Test Dose Pharmacokinetics in Pediatric Patients Receiving Once-Daily IV Busulfan Conditioning for Hematopoietic Stem Cell Transplant: A Reliable Approach?

Brooks KM, Jarosinski P, Hughes T, Kang E, Shah NN, Gall JBL, Hickstein DD, De Ravin SS, George JM, Kumar P.

J Clin Pharmacol. 2018 Mar;58(3):332-339. doi: 10.1002/jcph.1049. Epub 2017 Dec 14.

7.

Targeted Repair of CYBB in X-CGD iPSCs Requires Retention of Intronic Sequences for Expression and Functional Correction.

Sweeney CL, Zou J, Choi U, Merling RK, Liu A, Bodansky A, Burkett S, Kim JW, De Ravin SS, Malech HL.

Mol Ther. 2017 Feb 1;25(2):321-330. doi: 10.1016/j.ymthe.2016.11.012.

8.

CRISPR-Cas9 gene repair of hematopoietic stem cells from patients with X-linked chronic granulomatous disease.

De Ravin SS, Li L, Wu X, Choi U, Allen C, Koontz S, Lee J, Theobald-Whiting N, Chu J, Garofalo M, Sweeney C, Kardava L, Moir S, Viley A, Natarajan P, Su L, Kuhns D, Zarember KA, Peshwa MV, Malech HL.

Sci Transl Med. 2017 Jan 11;9(372). pii: eaah3480. doi: 10.1126/scitranslmed.aah3480.

PMID:
28077679
9.

Genetic Risk for Inflammatory Bowel Disease Is a Determinant of Crohn's Disease Development in Chronic Granulomatous Disease.

Huang C, De Ravin SS, Paul AR, Heller T, Ho N, Wu Datta L, Zerbe CS, Marciano BE, Kuhns DB, Kader HA, Holland SM, Malech HL, Brant SR; NIDDK IBD Genetics Consortium,.

Inflamm Bowel Dis. 2016 Dec;22(12):2794-2801.

10.

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.

Walter JE, Rosen LB, Csomos K, Rosenberg JM, Mathew D, Keszei M, Ujhazi B, Chen K, Lee YN, Tirosh I, Dobbs K, Al-Herz W, Cowan MJ, Puck J, Bleesing JJ, Grimley MS, Malech H, De Ravin SS, Gennery AR, Abraham RS, Joshi AY, Boyce TG, Butte MJ, Nadeau KC, Balboni I, Sullivan KE, Akhter J, Adeli M, El-Feky RA, El-Ghoneimy DH, Dbaibo G, Wakim R, Azzari C, Palma P, Cancrini C, Capuder K, Condino-Neto A, Costa-Carvalho BT, Oliveira JB, Roifman C, Buchbinder D, Kumanovics A, Franco JL, Niehues T, Schuetz C, Kuijpers T, Yee C, Chou J, Masaad MJ, Geha R, Uzel G, Gelman R, Holland SM, Recher M, Utz PJ, Browne SK, Notarangelo LD.

J Clin Invest. 2016 Nov 1;126(11):4389. doi: 10.1172/JCI91162. Epub 2016 Nov 1. No abstract available.

11.

Lentiviral hematopoietic stem cell gene therapy for X-linked severe combined immunodeficiency.

De Ravin SS, Wu X, Moir S, Anaya-O'Brien S, Kwatemaa N, Littel P, Theobald N, Choi U, Su L, Marquesen M, Hilligoss D, Lee J, Buckner CM, Zarember KA, O'Connor G, McVicar D, Kuhns D, Throm RE, Zhou S, Notarangelo LD, Hanson IC, Cowan MJ, Kang E, Hadigan C, Meagher M, Gray JT, Sorrentino BP, Malech HL, Kardava L.

Sci Transl Med. 2016 Apr 20;8(335):335ra57. doi: 10.1126/scitranslmed.aad8856. Erratum in: Sci Transl Med. 2016 Jun 1;8(341):341er5.

12.

Targeted gene addition in human CD34(+) hematopoietic cells for correction of X-linked chronic granulomatous disease.

De Ravin SS, Reik A, Liu PQ, Li L, Wu X, Su L, Raley C, Theobald N, Choi U, Song AH, Chan A, Pearl JR, Paschon DE, Lee J, Newcombe H, Koontz S, Sweeney C, Shivak DA, Zarember KA, Peshwa MV, Gregory PD, Urnov FD, Malech HL.

Nat Biotechnol. 2016 Apr;34(4):424-9. doi: 10.1038/nbt.3513. Epub 2016 Mar 7.

13.

Neutrophil extracellular traps enriched in oxidized mitochondrial DNA are interferogenic and contribute to lupus-like disease.

Lood C, Blanco LP, Purmalek MM, Carmona-Rivera C, De Ravin SS, Smith CK, Malech HL, Ledbetter JA, Elkon KB, Kaplan MJ.

Nat Med. 2016 Feb;22(2):146-53. doi: 10.1038/nm.4027. Epub 2016 Jan 18.

14.

Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency.

Walter JE, Rosen LB, Csomos K, Rosenberg JM, Mathew D, Keszei M, Ujhazi B, Chen K, Lee YN, Tirosh I, Dobbs K, Al-Herz W, Cowan MJ, Puck J, Bleesing JJ, Grimley MS, Malech H, De Ravin SS, Gennery AR, Abraham RS, Joshi AY, Boyce TG, Butte MJ, Nadeau KC, Balboni I, Sullivan KE, Akhter J, Adeli M, El-Feky RA, El-Ghoneimy DH, Dbaibo G, Wakim R, Azzari C, Palma P, Cancrini C, Capuder K, Condino-Neto A, Costa-Carvalho BT, Oliveira JB, Roifman C, Buchbinder D, Kumanovics A, Franco JL, Niehues T, Schuetz C, Kuijpers T, Yee C, Chou J, Masaad MJ, Geha R, Uzel G, Gelman R, Holland SM, Recher M, Utz PJ, Browne SK, Notarangelo LD.

J Clin Invest. 2015 Nov 2;125(11):4135-48. doi: 10.1172/JCI80477. Epub 2015 Oct 12. Erratum in: J Clin Invest. 2016 Nov 1;126(11):4389.

15.

Gene therapy studies in a canine model of X-linked severe combined immunodeficiency.

Felsburg PJ, De Ravin SS, Malech HL, Sorrentino BP, Burtner C, Kiem HP.

Hum Gene Ther Clin Dev. 2015 Mar;26(1):50-6. doi: 10.1089/humc.2015.004. Epub 2015 Feb 24. Review.

16.

Quantitative shearing linear amplification polymerase chain reaction: an improved method for quantifying lentiviral vector insertion sites in transplanted hematopoietic cell systems.

Zhou S, Bonner MA, Wang YD, Rapp S, De Ravin SS, Malech HL, Sorrentino BP.

Hum Gene Ther Methods. 2015 Feb;26(1):4-12. doi: 10.1089/hgtb.2014.122. Epub 2015 Feb 5.

17.

An AAVS1-targeted minigene platform for correction of iPSCs from all five types of chronic granulomatous disease.

Merling RK, Sweeney CL, Chu J, Bodansky A, Choi U, Priel DL, Kuhns DB, Wang H, Vasilevsky S, De Ravin SS, Winkler T, Dunbar CE, Zou J, Zarember KA, Gallin JI, Holland SM, Malech HL.

Mol Ther. 2015 Jan;23(1):147-57. doi: 10.1038/mt.2014.195. Epub 2014 Oct 7.

18.

Mobilization characteristics and strategies to improve hematopoietic progenitor cell mobilization and collection in patients with chronic granulomatous disease and severe combined immunodeficiency.

Panch SR, Yau YY, Kang EM, De Ravin SS, Malech HL, Leitman SF.

Transfusion. 2015 Feb;55(2):265-74. doi: 10.1111/trf.12830. Epub 2014 Aug 21.

19.

Paravertebral mushroom: identification of a novel species of Phellinus as a human pathogen in chronic granulomatous disease.

De Ravin SS, Parta M, Sutton DA, Wickes BL, Thompson EH, Wiederhold NP, Nakasone KK, Alimchandani M, OConnell A, Notarangelo L, Kang E, Malech HL, Zelazny AM.

J Clin Microbiol. 2014 Jul;52(7):2726-9. doi: 10.1128/JCM.00667-14. Epub 2014 May 14.

20.

Recurrent erythematous plaques on sun-exposed sites in an African American boy with chronic granulomatous disease.

Turegano MM, Lee CC, Malech HL, De Ravin SS, Cowen EW, Brownell I.

J Am Acad Dermatol. 2014 Mar;70(3):576-80. doi: 10.1016/j.jaad.2013.09.051. No abstract available.

21.

Enhancers are major targets for murine leukemia virus vector integration.

De Ravin SS, Su L, Theobald N, Choi U, Macpherson JL, Poidinger M, Symonds G, Pond SM, Ferris AL, Hughes SH, Malech HL, Wu X.

J Virol. 2014 Apr;88(8):4504-13. doi: 10.1128/JVI.00011-14. Epub 2014 Feb 5.

22.

False-positive HIV PCR test following ex vivo lentiviral gene transfer treatment of X-linked severe combined immunodeficiency vector.

De Ravin SS, Gray JT, Throm RE, Spindler J, Kearney M, Wu X, Coffin JM, Hughes SH, Malderelli F, Sorrentino BP, Malech HL.

Mol Ther. 2014 Feb;22(2):244-245. doi: 10.1038/mt.2013.296. No abstract available.

23.

CXCR4/IgG-expressing plasma cells are associated with human gastrointestinal tissue inflammation.

Buckner CM, Moir S, Kardava L, Ho J, Santich BH, Kim LJ, Funk EK, Nelson AK, Winckler B, Chairez CL, Theobald-Whiting NL, Anaya-O'Brien S, Alimchandani M, Quezado MM, Yao MD, Kovacs JA, Chun TW, Fauci AS, Malech HL, De Ravin SS.

J Allergy Clin Immunol. 2014 Jun;133(6):1676-85.e5. doi: 10.1016/j.jaci.2013.10.050. Epub 2013 Dec 25.

24.

Transgene-free iPSCs generated from small volume peripheral blood nonmobilized CD34+ cells.

Merling RK, Sweeney CL, Choi U, De Ravin SS, Myers TG, Otaizo-Carrasquero F, Pan J, Linton G, Chen L, Koontz S, Theobald NL, Malech HL.

Blood. 2013 Apr 4;121(14):e98-107. doi: 10.1182/blood-2012-03-420273. Epub 2013 Feb 5.

25.

Humans with chronic granulomatous disease maintain humoral immunologic memory despite low frequencies of circulating memory B cells.

Moir S, De Ravin SS, Santich BH, Kim JY, Posada JG, Ho J, Buckner CM, Wang W, Kardava L, Garofalo M, Marciano BE, Manischewitz J, King LR, Khurana S, Chun TW, Golding H, Fauci AS, Malech HL.

Blood. 2012 Dec 6;120(24):4850-8. doi: 10.1182/blood-2012-05-430959. Epub 2012 Oct 16.

26.

Geosmithia argillacea: an emerging cause of invasive mycosis in human chronic granulomatous disease.

De Ravin SS, Challipalli M, Anderson V, Shea YR, Marciano B, Hilligoss D, Marquesen M, Decastro R, Liu YC, Sutton DA, Wickes BL, Kammeyer PL, Sigler L, Sullivan K, Kang EM, Malech HL, Holland SM, Zelazny AM.

Clin Infect Dis. 2011 Mar 15;52(6):e136-43. doi: 10.1093/cid/ciq250.

27.

High levels of Crohn's disease-associated anti-microbial antibodies are present and independent of colitis in chronic granulomatous disease.

Yu JE, De Ravin SS, Uzel G, Landers C, Targan S, Malech HL, Holland SM, Cao W, Harpaz N, Mayer L, Cunningham-Rundles C.

Clin Immunol. 2011 Jan;138(1):14-22. doi: 10.1016/j.clim.2010.08.003. Epub 2010 Oct 16.

28.

Severe congenital neutropenia resulting from G6PC3 deficiency with increased neutrophil CXCR4 expression and myelokathexis.

McDermott DH, De Ravin SS, Jun HS, Liu Q, Priel DA, Noel P, Takemoto CM, Ojode T, Paul SM, Dunsmore KP, Hilligoss D, Marquesen M, Ulrick J, Kuhns DB, Chou JY, Malech HL, Murphy PM.

Blood. 2010 Oct 14;116(15):2793-802. doi: 10.1182/blood-2010-01-265942. Epub 2010 Jul 8.

29.

Tryptophan/kynurenine metabolism in human leukocytes is independent of superoxide and is fully maintained in chronic granulomatous disease.

De Ravin SS, Zarember KA, Long-Priel D, Chan KC, Fox SD, Gallin JI, Kuhns DB, Malech HL.

Blood. 2010 Sep 9;116(10):1755-60. doi: 10.1182/blood-2009-07-233734. Epub 2010 May 28.

30.

Characterization of retroviral and lentiviral vectors pseudotyped with xenotropic murine leukemia virus-related virus envelope glycoprotein.

Sakuma T, De Ravin SS, Tonne JM, Thatava T, Ohmine S, Takeuchi Y, Malech HL, Ikeda Y.

Hum Gene Ther. 2010 Dec;21(12):1665-73. doi: 10.1089/hum.2010.063. Epub 2010 Sep 17.

31.

Lack of glucose recycling between endoplasmic reticulum and cytoplasm underlies cellular dysfunction in glucose-6-phosphatase-beta-deficient neutrophils in a congenital neutropenia syndrome.

Jun HS, Lee YM, Cheung YY, McDermott DH, Murphy PM, De Ravin SS, Mansfield BC, Chou JY.

Blood. 2010 Oct 14;116(15):2783-92. doi: 10.1182/blood-2009-12-258491. Epub 2010 May 24.

32.

Hypomorphic Rag mutations can cause destructive midline granulomatous disease.

De Ravin SS, Cowen EW, Zarember KA, Whiting-Theobald NL, Kuhns DB, Sandler NG, Douek DC, Pittaluga S, Poliani PL, Lee YN, Notarangelo LD, Wang L, Alt FW, Kang EM, Milner JD, Niemela JE, Fontana-Penn M, Sinal SH, Malech HL.

Blood. 2010 Aug 26;116(8):1263-71. doi: 10.1182/blood-2010-02-267583. Epub 2010 May 20.

33.

Efficient construction of producer cell lines for a SIN lentiviral vector for SCID-X1 gene therapy by concatemeric array transfection.

Throm RE, Ouma AA, Zhou S, Chandrasekaran A, Lockey T, Greene M, De Ravin SS, Moayeri M, Malech HL, Sorrentino BP, Gray JT.

Blood. 2009 May 21;113(21):5104-10. doi: 10.1182/blood-2008-11-191049. Epub 2009 Mar 13.

34.

Short stature in partially corrected X-linked severe combined immunodeficiency--suboptimal response to growth hormone.

De Ravin SS, Shum E, Zarember KA, Rezvani G, Rosenfeld RG, Stratakis CA, Malech HL.

J Pediatr Endocrinol Metab. 2008 Nov;21(11):1057-63.

35.

Partially corrected X-linked severe combined immunodeficiency: long-term problems and treatment options.

De Ravin SS, Malech HL.

Immunol Res. 2009;43(1-3):223-42. doi: 10.1007/s12026-008-8073-6. Review.

PMID:
18979075
36.

Chronic granulomatous disease as a risk factor for autoimmune disease.

De Ravin SS, Naumann N, Cowen EW, Friend J, Hilligoss D, Marquesen M, Balow JE, Barron KS, Turner ML, Gallin JI, Malech HL.

J Allergy Clin Immunol. 2008 Dec;122(6):1097-103. doi: 10.1016/j.jaci.2008.07.050. Epub 2008 Sep 26.

37.

Severe combined immunodeficiency: a national surveillance study.

Yee A, De Ravin SS, Elliott E, Ziegler JB; Contributors to the Australian Paediatric Surveillance Unit.

Pediatr Allergy Immunol. 2008 Jun;19(4):298-302. doi: 10.1111/j.1399-3038.2007.00646.x. Epub 2008 Jan 24.

PMID:
18221464
38.

Simian immunodeficiency virus lentivector corrects human X-linked chronic granulomatous disease in the NOD/SCID mouse xenograft.

Naumann N, De Ravin SS, Choi U, Moayeri M, Whiting-Theobald N, Linton GF, Ikeda Y, Malech HL.

Gene Ther. 2007 Nov;14(21):1513-24. Epub 2007 Aug 30.

39.

Gene therapy improves immune function in preadolescents with X-linked severe combined immunodeficiency.

Chinen J, Davis J, De Ravin SS, Hay BN, Hsu AP, Linton GF, Naumann N, Nomicos EY, Silvin C, Ulrick J, Whiting-Theobald NL, Malech HL, Puck JM.

Blood. 2007 Jul 1;110(1):67-73. Epub 2007 Mar 16.

40.

Sarcoidosis in chronic granulomatous disease.

De Ravin SS, Naumann N, Robinson MR, Barron KS, Kleiner DE, Ulrick J, Friend J, Anderson VL, Darnell D, Kang EM, Malech HL.

Pediatrics. 2006 Mar;117(3):e590-5. Epub 2006 Feb 1.

PMID:
16452321

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