Turvey SE - Search Results

1

Clinical IRAK4 deficiency caused by homozygosity for the novel IRAK4 (c.1049delG, p.Gly350Glufs*15) variant.

Jia A, James E, Lu HY, Sharma M, Modi BP, Biggs CM, Hildebrand KJ, Chomyn A, Erdle S, Kular H, Turvey SE. Jia A, et al. Among authors: turvey se. Cold Spring Harb Mol Case Stud. 2020 Jun 12;6(3):a005298. doi: 10.1101/mcs.a005298. Print 2020 Jun. Cold Spring Harb Mol Case Stud. 2020. PMID: 32532880 Free PMC article.

2

Human primary immunodeficiencies causing defects in innate immunity.

Wong T, Yeung J, Hildebrand KJ, Junker AK, Turvey SE. Wong T, et al. Among authors: turvey se. Curr Opin Allergy Clin Immunol. 2013 Dec;13(6):607-13. doi: 10.1097/ACI.0000000000000010. Curr Opin Allergy Clin Immunol. 2013. PMID: 24126612 Review.

3

Limitation of TREC-based newborn screening for ZAP70 Severe Combined Immunodeficiency.

Grazioli S, Bennett M, Hildebrand KJ, Vallance H, Turvey SE, Junker AK. Grazioli S, et al. Among authors: turvey se. Clin Immunol. 2014 Jul;153(1):209-10. doi: 10.1016/j.clim.2014.04.015. Epub 2014 May 4. Clin Immunol. 2014. PMID: 24797280 No abstract available.

4

IRAK-4 deficiency as a cause for familial fatal invasive infection by Streptococcus pneumoniae.

Grazioli S, Hamilton SJ, McKinnon ML, Del Bel KL, Hoang L, Cook VE, Hildebrand KJ, Junker AK, Turvey SE. Grazioli S, et al. Among authors: turvey se. Clin Immunol. 2016 Feb;163:14-6. doi: 10.1016/j.clim.2015.12.007. Epub 2015 Dec 15. Clin Immunol. 2016. PMID: 26698383

5

Pre-diagnostic genotyping identifies T1D subjects with impaired Treg IL-2 signaling and an elevated proportion of FOXP3⁺IL-17⁺ cells.

Marwaha AK, Panagiotopoulos C, Biggs CM, Staiger S, Del Bel KL, Hirschfeld AF, Priatel JJ, Turvey SE, Tan R. Marwaha AK, et al. Among authors: turvey se. Genes Immun. 2017 Jan;18(1):15-21. doi: 10.1038/gene.2016.44. Epub 2017 Jan 5. Genes Immun. 2017. PMID: 28053319 Free PMC article.

6

Monogenic immune disorders and severe atopic disease.

Biggs CM, Lu HY, Turvey SE. Biggs CM, et al. Among authors: turvey se. Nat Genet. 2017 Jul 27;49(8):1162-1163. doi: 10.1038/ng.3925. Nat Genet. 2017. PMID: 28747751

7

Newborn screening for severe combined immunodeficiency: a primer for clinicians.

Biggs CM, Haddad E, Issekutz TB, Roifman CM, Turvey SE. Biggs CM, et al. Among authors: turvey se. CMAJ. 2017 Dec 18;189(50):E1551-E1557. doi: 10.1503/cmaj.170561. CMAJ. 2017. PMID: 29255099 Free PMC article. Review. No abstract available.

8

Combination therapy with proteasome inhibitors and TLR agonists enhances tumour cell death and IL-1β production.

Tang AC, Rahavi SM, Fung SY, Lu HY, Yang H, Lim CJ, Reid GS, Turvey SE. Tang AC, et al. Among authors: turvey se. Cell Death Dis. 2018 Feb 7;9(2):162. doi: 10.1038/s41419-017-0194-1. Cell Death Dis. 2018. PMID: 29415982 Free PMC article.

9

The importance of functional validation after next-generation sequencing: evaluation of a novel CARD11 variant.

Lu HY, Sharma M, Biggs CM, Huang YH, Shopsowitz KE, Frosk P, Priatel JJ, Rubin TS, Turvey SE. Lu HY, et al. Among authors: turvey se. Pediatr Allergy Immunol. 2018 Sep;29(6):663-668. doi: 10.1111/pai.12930. Epub 2018 Jun 25. Pediatr Allergy Immunol. 2018. PMID: 29808493 No abstract available.

10

The CBM-opathies-A Rapidly Expanding Spectrum of Human Inborn Errors of Immunity Caused by Mutations in the CARD11-BCL10-MALT1 Complex.

Lu HY, Bauman BM, Arjunaraja S, Dorjbal B, Milner JD, Snow AL, Turvey SE. Lu HY, et al. Among authors: turvey se. Front Immunol. 2018 Sep 19;9:2078. doi: 10.3389/fimmu.2018.02078. eCollection 2018. Front Immunol. 2018. PMID: 30283440 Free PMC article. Review.

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