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Items: 1 to 50 of 53

1.

Enhanced CAR T cell expansion and prolonged persistence in pediatric patients with ALL treated with a low-affinity CD19 CAR.

Ghorashian S, Kramer AM, Onuoha S, Wright G, Bartram J, Richardson R, Albon SJ, Casanovas-Company J, Castro F, Popova B, Villanueva K, Yeung J, Vetharoy W, Guvenel A, Wawrzyniecka PA, Mekkaoui L, Cheung GW, Pinner D, Chu J, Lucchini G, Silva J, Ciocarlie O, Lazareva A, Inglott S, Gilmour KC, Ahsan G, Ferrari M, Manzoor S, Champion K, Brooks T, Lopes A, Hackshaw A, Farzaneh F, Chiesa R, Rao K, Bonney D, Samarasinghe S, Goulden N, Vora A, Veys P, Hough R, Wynn R, Pule MA, Amrolia PJ.

Nat Med. 2019 Sep;25(9):1408-1414. doi: 10.1038/s41591-019-0549-5. Epub 2019 Sep 2.

PMID:
31477906
2.

Engineered bacteriophages for treatment of a patient with a disseminated drug-resistant Mycobacterium abscessus.

Dedrick RM, Guerrero-Bustamante CA, Garlena RA, Russell DA, Ford K, Harris K, Gilmour KC, Soothill J, Jacobs-Sera D, Schooley RT, Hatfull GF, Spencer H.

Nat Med. 2019 May;25(5):730-733. doi: 10.1038/s41591-019-0437-z. Epub 2019 May 8.

3.

A case for reduced frequency of CD4 count monitoring for children on combination antiretroviral therapy with consistently undetectable HIV viral load.

Johnson SM, Standing JF, Klein N, Irwin AD, Shingadia D, Lonsdale DO, Gilmour KC, Flynn J, Manns C, Clapson M, Bamford A.

HIV Med. 2019 Apr;20(4):e8-e9. doi: 10.1111/hiv.12706. Epub 2019 Jan 28. No abstract available.

PMID:
30693658
4.

Cord blood transplantation recapitulates fetal ontogeny with a distinct molecular signature that supports CD4+ T-cell reconstitution.

Hiwarkar P, Hubank M, Qasim W, Chiesa R, Gilmour KC, Saudemont A, Amrolia PJ, Veys P.

Blood Adv. 2017 Nov 2;1(24):2206-2216. doi: 10.1182/bloodadvances.2017010827. eCollection 2017 Nov 14.

5.

A comparison of TRECs and flow cytometry for naive T cell quantification.

Adams SP, Kricke S, Ralph E, Gilmour N, Gilmour KC.

Clin Exp Immunol. 2018 Feb;191(2):198-202. doi: 10.1111/cei.13062. Epub 2017 Oct 27.

6.

Biallelic JAK1 mutations in immunodeficient patient with mycobacterial infection.

Eletto D, Burns SO, Angulo I, Plagnol V, Gilmour KC, Henriquez F, Curtis J, Gaspar M, Nowak K, Daza-Cajigal V, Kumararatne D, Doffinger R, Thrasher AJ, Nejentsev S.

Nat Commun. 2016 Dec 23;7:13992. doi: 10.1038/ncomms13992.

7.

Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene WDR1.

Standing AS, Malinova D, Hong Y, Record J, Moulding D, Blundell MP, Nowak K, Jones H, Omoyinmi E, Gilmour KC, Medlar A, Stanescu H, Kleta R, Anderson G, Nanthapisal S, Gomes SM, Klein N, Eleftheriou D, Thrasher AJ, Brogan PA.

J Exp Med. 2017 Jan;214(1):59-71. doi: 10.1084/jem.20161228. Epub 2016 Dec 19.

8.

Missense mutations in the perforin (PRF1) gene as a cause of hereditary cancer predisposition.

Chaudhry MS, Gilmour KC, House IG, Layton M, Panoskaltsis N, Sohal M, Trapani JA, Voskoboinik I.

Oncoimmunology. 2016 Jun 2;5(7):e1179415. doi: 10.1080/2162402X.2016.1179415. eCollection 2016 Jul.

9.

Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency.

Bacchelli C, Moretti FA, Carmo M, Adams S, Stanescu HC, Pearce K, Madkaikar M, Gilmour KC, Nicholas AK, Woods CG, Kleta R, Beales PL, Qasim W, Gaspar HB.

J Allergy Clin Immunol. 2017 Feb;139(2):634-642.e5. doi: 10.1016/j.jaci.2016.05.036. Epub 2016 Jul 15.

PMID:
27522155
10.

Common variable immunodeficiency and natural killer cell lymphopenia caused by Ets-binding site mutation in the IL-2 receptor γ (IL2RG) gene promoter.

Chandra A, Zhang F, Gilmour KC, Webster D, Plagnol V, Kumararatne DS, Burns SO, Nejentsev S, Thrasher AJ.

J Allergy Clin Immunol. 2016 Mar;137(3):940-2.e4. doi: 10.1016/j.jaci.2015.08.049. Epub 2015 Oct 31. No abstract available.

11.

Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission.

Shahni R, Cale CM, Anderson G, Osellame LD, Hambleton S, Jacques TS, Wedatilake Y, Taanman JW, Chan E, Qasim W, Plagnol V, Chalasani A, Duchen MR, Gilmour KC, Rahman S.

Brain. 2015 Oct;138(Pt 10):2834-46. doi: 10.1093/brain/awv182. Epub 2015 Jun 29.

12.

The syndrome of hemophagocytic lymphohistiocytosis in primary immunodeficiencies: implications for differential diagnosis and pathogenesis.

Bode SF, Ammann S, Al-Herz W, Bataneant M, Dvorak CC, Gehring S, Gennery A, Gilmour KC, Gonzalez-Granado LI, Groß-Wieltsch U, Ifversen M, Lingman-Framme J, Matthes-Martin S, Mesters R, Meyts I, van Montfrans JM, Pachlopnik Schmid J, Pai SY, Soler-Palacin P, Schuermann U, Schuster V, Seidel MG, Speckmann C, Stepensky P, Sykora KW, Tesi B, Vraetz T, Waruiru C, Bryceson YT, Moshous D, Lehmberg K, Jordan MB, Ehl S; Inborn Errors Working Party of the EBMT.

Haematologica. 2015 Jul;100(7):978-88. doi: 10.3324/haematol.2014.121608. Epub 2015 May 28.

13.

Immunodeficiency and disseminated mycobacterial infection associated with homozygous nonsense mutation of IKKβ.

Burns SO, Plagnol V, Gutierrez BM, Al Zahrani D, Curtis J, Gaspar M, Hassan A, Jones AM, Malone M, Rampling D, McLatchie A, Doffinger R, Gilmour KC, Henriquez F, Thrasher AJ, Gaspar HB, Nejentsev S.

J Allergy Clin Immunol. 2014 Jul;134(1):215-8. doi: 10.1016/j.jaci.2013.12.1093. Epub 2014 Mar 27. No abstract available.

14.

The many faces of Artemis-deficient combined immunodeficiency - Two patients with DCLRE1C mutations and a systematic literature review of genotype-phenotype correlation.

Lee PP, Woodbine L, Gilmour KC, Bibi S, Cale CM, Amrolia PJ, Veys PA, Davies EG, Jeggo PA, Jones A.

Clin Immunol. 2013 Dec;149(3):464-74. doi: 10.1016/j.clim.2013.08.006. Epub 2013 Aug 27. Review.

PMID:
24230999
15.

Impact of thymoglobulin prior to pediatric unrelated umbilical cord blood transplantation on immune reconstitution and clinical outcome.

Lindemans CA, Chiesa R, Amrolia PJ, Rao K, Nikolajeva O, de Wildt A, Gerhardt CE, Gilmour KC, B Bierings M, Veys P, Boelens JJ.

Blood. 2014 Jan 2;123(1):126-32. doi: 10.1182/blood-2013-05-502385. Epub 2013 Nov 1.

PMID:
24184682
16.

22q11.2 deletion syndrome with life-threatening adenovirus infection.

Ip W, Zhan H, Gilmour KC, Davies EG, Qasim W.

J Pediatr. 2013 Sep;163(3):908-10. doi: 10.1016/j.jpeds.2013.03.070. Epub 2013 May 6.

PMID:
23660376
17.

Disruption of AP3B1 by a chromosome 5 inversion: a new disease mechanism in Hermansky-Pudlak syndrome type 2.

Jones ML, Murden SL, Brooks C, Maloney V, Manning RA, Gilmour KC, Bharadwaj V, de la Fuente J, Chakravorty S, Mumford AD.

BMC Med Genet. 2013 Apr 4;14:42. doi: 10.1186/1471-2350-14-42.

18.

Comparison of primary human cytotoxic T-cell and natural killer cell responses reveal similar molecular requirements for lytic granule exocytosis but differences in cytokine production.

Chiang SC, Theorell J, Entesarian M, Meeths M, Mastafa M, Al-Herz W, Frisk P, Gilmour KC, Ifversen M, Langenskiöld C, Machaczka M, Naqvi A, Payne J, Perez-Martinez A, Sabel M, Unal E, Unal S, Winiarski J, Nordenskjöld M, Ljunggren HG, Henter JI, Bryceson YT.

Blood. 2013 Feb 21;121(8):1345-56. doi: 10.1182/blood-2012-07-442558. Epub 2013 Jan 2.

PMID:
23287865
19.

A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes.

Bryceson YT, Pende D, Maul-Pavicic A, Gilmour KC, Ufheil H, Vraetz T, Chiang SC, Marcenaro S, Meazza R, Bondzio I, Walshe D, Janka G, Lehmberg K, Beutel K, zur Stadt U, Binder N, Arico M, Moretta L, Henter JI, Ehl S.

Blood. 2012 Mar 22;119(12):2754-63. doi: 10.1182/blood-2011-08-374199. Epub 2012 Jan 31.

PMID:
22294731
20.

Phenotypic heterogeneity in a family with a CD40 ligand intracellular domain mutation.

Kiani-Alikhan S, Yong PF, Gilmour KC, Grosse-Kreul D, Davies EG, Ibrahim MA.

J Clin Immunol. 2012 Feb;32(1):70-7. doi: 10.1007/s10875-011-9607-6. Epub 2011 Oct 19.

PMID:
22009004
21.

Hematopoietic stem cell gene therapy for adenosine deaminase-deficient severe combined immunodeficiency leads to long-term immunological recovery and metabolic correction.

Gaspar HB, Cooray S, Gilmour KC, Parsley KL, Zhang F, Adams S, Bjorkegren E, Bayford J, Brown L, Davies EG, Veys P, Fairbanks L, Bordon V, Petropoulou T, Kinnon C, Thrasher AJ.

Sci Transl Med. 2011 Aug 24;3(97):97ra80. doi: 10.1126/scitranslmed.3002716. Erratum in: Sci Transl Med. 2013 Jan 16;5(168):168er1. Petropolou, Theoni [corrected to Petropoulou, Theoni].

22.

Long-term persistence of a polyclonal T cell repertoire after gene therapy for X-linked severe combined immunodeficiency.

Gaspar HB, Cooray S, Gilmour KC, Parsley KL, Adams S, Howe SJ, Al Ghonaium A, Bayford J, Brown L, Davies EG, Kinnon C, Thrasher AJ.

Sci Transl Med. 2011 Aug 24;3(97):97ra79. doi: 10.1126/scitranslmed.3002715.

23.

Familial haemophagocytic lymphohistiocytosis: advances in the genetic basis, diagnosis and management.

Gholam C, Grigoriadou S, Gilmour KC, Gaspar HB.

Clin Exp Immunol. 2011 Mar;163(3):271-83. doi: 10.1111/j.1365-2249.2010.04302.x. Review.

24.

X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease.

Booth C, Gilmour KC, Veys P, Gennery AR, Slatter MA, Chapel H, Heath PT, Steward CG, Smith O, O'Meara A, Kerrigan H, Mahlaoui N, Cavazzana-Calvo M, Fischer A, Moshous D, Blanche S, Pachlopnik Schmid J, Latour S, de Saint-Basile G, Albert M, Notheis G, Rieber N, Strahm B, Ritterbusch H, Lankester A, Hartwig NG, Meyts I, Plebani A, Soresina A, Finocchi A, Pignata C, Cirillo E, Bonanomi S, Peters C, Kalwak K, Pasic S, Sedlacek P, Jazbec J, Kanegane H, Nichols KE, Hanson IC, Kapoor N, Haddad E, Cowan M, Choo S, Smart J, Arkwright PD, Gaspar HB.

Blood. 2011 Jan 6;117(1):53-62. doi: 10.1182/blood-2010-06-284935. Epub 2010 Oct 6. Erratum in: Blood. 2011 Nov 3;118(18):5060. Pachlopnick-Schmid, Jana [corrected to Pachlopnik Schmid, Jana].

25.

STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5.

Cetica V, Santoro A, Gilmour KC, Sieni E, Beutel K, Pende D, Marcenaro S, Koch F, Grieve S, Wheeler R, Zhao F, zur Stadt U, Griffiths GM, Aricò M.

J Med Genet. 2010 Sep;47(9):595-600. doi: 10.1136/jmg.2009.075341.

26.

A novel assay for investigation of suspected familial haemophagocytic lymphohistiocytosis.

Wheeler RD, Cale CM, Cetica V, Aricò M, Gilmour KC.

Br J Haematol. 2010 Sep;150(6):727-30. doi: 10.1111/j.1365-2141.2010.08289.x. No abstract available.

PMID:
20618327
27.

Type II Gaucher disease manifesting as haemophagocytic lymphohistiocytosis.

Sharpe LR, Ancliff P, Amrolia P, Gilmour KC, Vellodi A.

J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S107-10. doi: 10.1007/s10545-009-1091-2. Epub 2009 Mar 11.

PMID:
19267217
28.

Signal transducer and activator of transcription 5 tyrosine phosphorylation for the diagnosis and monitoring of patients with severe combined immunodeficiency.

Walshe D, Gaspar HB, Thrasher AJ, Cale CM, Gilmour KC.

J Allergy Clin Immunol. 2009 Feb;123(2):505-8. doi: 10.1016/j.jaci.2008.11.041. No abstract available.

PMID:
19203666
29.

Cerebral toxoplasmosis in a middle-aged man as first presentation of primary immunodeficiency due to a hypomorphic mutation in the CD40 ligand gene.

Yong PF, Post FA, Gilmour KC, Grosse-Kreul D, King A, Easterbrook P, Ibrahim MA.

J Clin Pathol. 2008 Nov;61(11):1220-2. doi: 10.1136/jcp.2008.058362.

PMID:
18955577
30.

Insertional mutagenesis combined with acquired somatic mutations causes leukemogenesis following gene therapy of SCID-X1 patients.

Howe SJ, Mansour MR, Schwarzwaelder K, Bartholomae C, Hubank M, Kempski H, Brugman MH, Pike-Overzet K, Chatters SJ, de Ridder D, Gilmour KC, Adams S, Thornhill SI, Parsley KL, Staal FJ, Gale RE, Linch DC, Bayford J, Brown L, Quaye M, Kinnon C, Ancliff P, Webb DK, Schmidt M, von Kalle C, Gaspar HB, Thrasher AJ.

J Clin Invest. 2008 Sep;118(9):3143-50. doi: 10.1172/JCI35798.

31.

Gammaretrovirus-mediated correction of SCID-X1 is associated with skewed vector integration site distribution in vivo.

Schwarzwaelder K, Howe SJ, Schmidt M, Brugman MH, Deichmann A, Glimm H, Schmidt S, Prinz C, Wissler M, King DJ, Zhang F, Parsley KL, Gilmour KC, Sinclair J, Bayford J, Peraj R, Pike-Overzet K, Staal FJ, de Ridder D, Kinnon C, Abel U, Wagemaker G, Gaspar HB, Thrasher AJ, von Kalle C.

J Clin Invest. 2007 Aug;117(8):2241-9.

32.

Capture and generation of adenovirus specific T cells for adoptive immunotherapy.

Chatziandreou I, Gilmour KC, McNicol AM, Costabile M, Sinclair J, Cubitt D, Campbell JD, Kinnon C, Qasim W, Gaspar HB.

Br J Haematol. 2007 Jan;136(1):117-26. Epub 2006 Nov 8.

PMID:
17092305
33.

Successful reconstitution of immunity in ADA-SCID by stem cell gene therapy following cessation of PEG-ADA and use of mild preconditioning.

Gaspar HB, Bjorkegren E, Parsley K, Gilmour KC, King D, Sinclair J, Zhang F, Giannakopoulos A, Adams S, Fairbanks LD, Gaspar J, Henderson L, Xu-Bayford JH, Davies EG, Veys PA, Kinnon C, Thrasher AJ.

Mol Ther. 2006 Oct;14(4):505-13. Epub 2006 Aug 14.

34.

The impact of telomere erosion on memory CD8+ T cells in patients with X-linked lymphoproliferative syndrome.

Plunkett FJ, Franzese O, Belaramani LL, Fletcher JM, Gilmour KC, Sharifi R, Khan N, Hislop AD, Cara A, Salmon M, Gaspar HB, Rustin MH, Webster D, Akbar AN.

Mech Ageing Dev. 2005 Aug;126(8):855-65. Epub 2005 Apr 25.

PMID:
15992610
35.

Gene therapy of X-linked severe combined immunodeficiency by use of a pseudotyped gammaretroviral vector.

Gaspar HB, Parsley KL, Howe S, King D, Gilmour KC, Sinclair J, Brouns G, Schmidt M, Von Kalle C, Barington T, Jakobsen MA, Christensen HO, Al Ghonaium A, White HN, Smith JL, Levinsky RJ, Ali RR, Kinnon C, Thrasher AJ.

Lancet. 2004 Dec 18-31;364(9452):2181-7.

PMID:
15610804
36.

Prevalence of SAP gene defects in male patients diagnosed with common variable immunodeficiency.

Eastwood D, Gilmour KC, Nistala K, Meaney C, Chapel H, Sherrell Z, Webster AD, Davies EG, Jones A, Gaspar HB.

Clin Exp Immunol. 2004 Sep;137(3):584-8.

37.

SAP mediates specific cytotoxic T-cell functions in X-linked lymphoproliferative disease.

Sharifi R, Sinclair JC, Gilmour KC, Arkwright PD, Kinnon C, Thrasher AJ, Gaspar HB.

Blood. 2004 May 15;103(10):3821-7. Epub 2004 Jan 15.

PMID:
14726378
38.

Molecular diagnosis of congenital immunodeficiency.

Eastwood D, Gilmour KC, Gaspar HB.

Methods Mol Med. 2004;91:91-108. No abstract available.

PMID:
14573932
39.

Immunological and genetic analysis of 65 patients with a clinical suspicion of X linked hyper-IgM.

Gilmour KC, Walshe D, Heath S, Monaghan G, Loughlin S, Lester T, Norbury G, Cale CM.

Mol Pathol. 2003 Oct;56(5):256-62.

40.

Pathogenesis and diagnosis of X-linked lymphoproliferative disease.

Gilmour KC, Gaspar HB.

Expert Rev Mol Diagn. 2003 Sep;3(5):549-61. Review.

PMID:
14510176
41.

X-linked lymphoproliferative disease: clinical, diagnostic and molecular perspective.

Gaspar HB, Sharifi R, Gilmour KC, Thrasher AJ.

Br J Haematol. 2002 Dec;119(3):585-95. Review. No abstract available.

PMID:
12437631
42.

X-linked lymphoproliferative disease: three atypical cases.

Nistala K, Gilmour KC, Cranston T, Davies EG, Goldblatt D, Gaspar HB, Jones AM.

Clin Exp Immunol. 2001 Oct;126(1):126-30.

43.
44.

Protein assays for diagnosis of Wiskott-Aldrich syndrome and X-linked thrombocytopenia.

Qasim W, Gilmour KC, Heath S, Ashton E, Cranston T, Thomas A, Finn A, Davies EG, Thrasher AJ, Kinnon C, Jones A, Gaspar HB.

Br J Haematol. 2001 Jun;113(4):861-5.

PMID:
11442475
45.

Rapid protein-based assays for the diagnosis of T-B+ severe combined immunodeficiency.

Gilmour KC, Cranston T, Loughlin S, Gwyther J, Lester T, Espanol T, Hernandez M, Savoldi G, Davies EG, Abinun M, Kinnon C, Jones A, Gaspar HB.

Br J Haematol. 2001 Mar;112(3):671-6.

PMID:
11260071
46.

Severe combined immunodeficiency--molecular pathogenesis and diagnosis.

Gaspar HB, Gilmour KC, Jones AM.

Arch Dis Child. 2001 Feb;84(2):169-73. Review. No abstract available.

47.

Diagnosis of X-linked lymphoproliferative disease by analysis of SLAM-associated protein expression.

Gilmour KC, Cranston T, Jones A, Davies EG, Goldblatt D, Thrasher A, Kinnon C, Nichols KE, Gaspar HB.

Eur J Immunol. 2000 Jun;30(6):1691-7.

48.

Cbfa1, a candidate gene for cleidocranial dysplasia syndrome, is essential for osteoblast differentiation and bone development.

Otto F, Thornell AP, Crompton T, Denzel A, Gilmour KC, Rosewell IR, Stamp GW, Beddington RS, Mundlos S, Olsen BR, Selby PB, Owen MJ.

Cell. 1997 May 30;89(5):765-71.

49.
50.

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