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Page 1
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. Bacchelli C, et al. Among authors: gilmour kc. J Allergy Clin Immunol. 2017 Feb;139(2):634-642.e5. doi: 10.1016/j.jaci.2016.05.036. Epub 2016 Jul 15. J Allergy Clin Immunol. 2017. PMID: 27522155 Free article.
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. Burns SO, et al. Among authors: gilmour kc. J Allergy Clin Immunol. 2014 Jul;134(1):215-8. doi: 10.1016/j.jaci.2013.12.1093. Epub 2014 Mar 27. J Allergy Clin Immunol. 2014. PMID: 24679846 Free PMC article. No abstract available.
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. Chandra A, et al. Among authors: gilmour kc. J Allergy Clin Immunol. 2016 Mar;137(3):940-2.e4. doi: 10.1016/j.jaci.2015.08.049. Epub 2015 Oct 31. J Allergy Clin Immunol. 2016. PMID: 26525228 Free PMC article. No abstract available.
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. Gaspar HB, et al. Among authors: gilmour kc. Lancet. 2004 Dec 18-31;364(9452):2181-7. doi: 10.1016/S0140-6736(04)17590-9. Lancet. 2004. PMID: 15610804
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. Gaspar HB, et al. Among authors: gilmour kc. Sci Transl Med. 2011 Aug 24;3(97):97ra80. doi: 10.1126/scitranslmed.3002716. Sci Transl Med. 2011. PMID: 21865538 Clinical Trial.
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.
Lorenzini T, Fliegauf M, Klammer N, Frede N, Proietti M, Bulashevska A, Camacho-Ordonez N, Varjosalo M, Kinnunen M, de Vries E, van der Meer JWM, Ameratunga R, Roifman CM, Schejter YD, Kobbe R, Hautala T, Atschekzei F, Schmidt RE, Schröder C, Stepensky P, Shadur B, Pedroza LA, van der Flier M, Martínez-Gallo M, Gonzalez-Granado LI, Allende LM, Shcherbina A, Kuzmenko N, Zakharova V, Neves JF, Svec P, Fischer U, Ip W, Bartsch O, Barış S, Klein C, Geha R, Chou J, Alosaimi M, Weintraub L, Boztug K, Hirschmugl T, Dos Santos Vilela MM, Holzinger D, Seidl M, Lougaris V, Plebani A, Alsina L, Piquer-Gibert M, Deyà-Martínez A, Slade CA, Aghamohammadi A, Abolhassani H, Hammarström L, Kuismin O, Helminen M, Allen HL, Thaventhiran JE, Freeman AF, Cook M, Bakhtiar S, Christiansen M, Cunningham-Rundles C, Patel NC, Rae W, Niehues T, Brauer N, Syrjänen J, Seppänen MRJ, Burns SO, Tuijnenburg P, Kuijpers TW; NIHR BioResource; Warnatz K, Grimbacher B; NIHR BioResource. Lorenzini T, et al. J Allergy Clin Immunol. 2020 Oct;146(4):901-911. doi: 10.1016/j.jaci.2019.11.051. Epub 2020 Apr 9. J Allergy Clin Immunol. 2020. PMID: 32278790 Free PMC article.
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. Schwarzwaelder K, et al. Among authors: gilmour kc. J Clin Invest. 2007 Aug;117(8):2241-9. doi: 10.1172/JCI31661. J Clin Invest. 2007. PMID: 17671654 Free PMC article. Clinical Trial.
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. Howe SJ, et al. Among authors: gilmour kc. J Clin Invest. 2008 Sep;118(9):3143-50. doi: 10.1172/JCI35798. J Clin Invest. 2008. PMID: 18688286 Free PMC article. Clinical Trial.
93 results