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Author Correction: Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice.
Wang L, Aschenbrenner D, Zeng Z, Cao X, Mayr D, Mehta M, Capitani M, Warner N, Pan J, Wang L, Li Q, Zuo T, Cohen-Kedar S, Lu J, Ardy RC, Mulder DJ, Dissanayake D, Peng K, Huang Z, Li X, Wang Y, Wang X, Li S, Bullers S, Gammage AN, Warnatz K, Schiefer AI, Krivan G, Goda V, Kahr WHA, Lemaire M; Genomics England Research Consortium; Lu CY, Siddiqui I, Surette MG, Kotlarz D, Engelhardt KR, Griffin HR, Rottapel R, Decaluwe H, Laxer RM, Proietti M, Hambleton S, Elcombe S, Guo CH, Grimbacher B, Dotan I, Ng SC, Freeman SA, Snapper SB, Klein C, Boztug K, Huang Y, Li D, Uhlig HH, Muise AM. Wang L, et al. Among authors: hambleton s. Nat Genet. 2022 Feb;54(2):213. doi: 10.1038/s41588-021-00998-6. Nat Genet. 2022. PMID: 34987219 No abstract available.
Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency.
Dang TS, Willet JD, Griffin HR, Morgan NV, O'Boyle G, Arkwright PD, Hughes SM, Abinun M, Tee LJ, Barge D, Engelhardt KR, Jackson M, Cant AJ, Maher ER, Koref MS, Reynard LN, Ali S, Hambleton S. Dang TS, et al. Among authors: hambleton s. J Clin Immunol. 2016 Feb;36(2):117-22. doi: 10.1007/s10875-016-0232-2. Epub 2016 Jan 22. J Clin Immunol. 2016. PMID: 26801501 Free PMC article.
Erratum to: Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency.
Dang TS, Willet JD, Griffin HR, Morgan NV, O'Boyle G, Arkwright PD, Hughes SM, Abinun M, Tee LJ, Barge D, Engelhardt KR, Jackson M, Cant AJ, Maher ER, Koref MS, Reynard LN, Ali S, Hambleton S. Dang TS, et al. Among authors: hambleton s. J Clin Immunol. 2016 Apr;36(3):336-7. doi: 10.1007/s10875-016-0248-7. J Clin Immunol. 2016. PMID: 26941167 Free PMC article. No abstract available.
Early-onset autoimmune disease due to a heterozygous loss-of-function mutation in TNFAIP3 (A20).
Duncan CJA, Dinnigan E, Theobald R, Grainger A, Skelton AJ, Hussain R, Willet JDP, Swan DJ, Coxhead J, Thomas MF, Thomas J, Zamvar V, Slatter MA, Cant AJ, Engelhardt KR, Hambleton S. Duncan CJA, et al. Among authors: hambleton s. Ann Rheum Dis. 2018 May;77(5):783-786. doi: 10.1136/annrheumdis-2016-210944. Epub 2017 Jun 28. Ann Rheum Dis. 2018. PMID: 28659290 Free PMC article. No abstract available.
Signal transducer and activator of transcription 5B deficiency due to a novel missense mutation in the coiled-coil domain.
Acres MJ, Gothe F, Grainger A, Skelton AJ, Swan DJ, Willet JDP, Leech S, Galcheva S, Iotova V, Hambleton S, Engelhardt KR. Acres MJ, et al. Among authors: hambleton s. J Allergy Clin Immunol. 2019 Jan;143(1):413-416.e4. doi: 10.1016/j.jaci.2018.08.032. Epub 2018 Sep 8. J Allergy Clin Immunol. 2019. PMID: 30205186 Free PMC article. No abstract available.
Immunodeficiency, autoimmune thrombocytopenia and enterocolitis caused by autosomal recessive deficiency of PIK3CD-encoded phosphoinositide 3-kinase δ.
Swan DJ, Aschenbrenner D, Lamb CA, Chakraborty K, Clark J, Pandey S, Engelhardt KR, Chen R, Cavounidis A, Ding Y, Krasnogor N, Carey CD, Acres M, Needham S, Cant AJ, Arkwright PD, Chandra A, Okkenhaug K, Uhlig HH, Hambleton S. Swan DJ, et al. Among authors: hambleton s. Haematologica. 2019 Oct;104(10):e483-e486. doi: 10.3324/haematol.2018.208397. Epub 2019 May 9. Haematologica. 2019. PMID: 31073077 Free PMC article. No abstract available.
Germline TET2 loss of function causes childhood immunodeficiency and lymphoma.
Stremenova Spegarova J, Lawless D, Mohamad SMB, Engelhardt KR, Doody G, Shrimpton J, Rensing-Ehl A, Ehl S, Rieux-Laucat F, Cargo C, Griffin H, Mikulasova A, Acres M, Morgan NV, Poulter JA, Sheridan EG, Chetcuti P, O'Riordan S, Anwar R, Carter CR, Przyborski S, Windebank K, Cant AJ, Lako M, Bacon CM, Savic S, Hambleton S. Stremenova Spegarova J, et al. Among authors: hambleton s. Blood. 2020 Aug 27;136(9):1055-1066. doi: 10.1182/blood.2020005844. Blood. 2020. PMID: 32518946 Free article.
Defective neutrophil development and specific granule deficiency caused by a homozygous splice-site mutation in SMARCD2.
Schim van der Loeff I, Sprenkeler EGG, Tool ATJ, Abinun M, Grainger A, Engelhardt KR, van Houdt M, Janssen H, Kuijpers TW, Hambleton S. Schim van der Loeff I, et al. Among authors: hambleton s. J Allergy Clin Immunol. 2021 Jun;147(6):2381-2385.e2. doi: 10.1016/j.jaci.2020.11.025. Epub 2020 Dec 3. J Allergy Clin Immunol. 2021. PMID: 33279574 Free PMC article.
Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice.
Wang L, Aschenbrenner D, Zeng Z, Cao X, Mayr D, Mehta M, Capitani M, Warner N, Pan J, Wang L, Li Q, Zuo T, Cohen-Kedar S, Lu J, Ardy RC, Mulder DJ, Dissanayake D, Peng K, Huang Z, Li X, Wang Y, Wang X, Li S, Bullers S, Gammage AN, Warnatz K, Schiefer AI, Krivan G, Goda V, Kahr WHA, Lemaire M; Genomics England Research Consortium; Lu CY, Siddiqui I, Surette MG, Kotlarz D, Engelhardt KR, Griffin HR, Rottapel R, Decaluwe H, Laxer RM, Proietti M, Hambleton S, Elcombe S, Guo CH, Grimbacher B, Dotan I, Ng SC, Freeman SA, Snapper SB, Klein C, Boztug K, Huang Y, Li D, Uhlig HH, Muise AM. Wang L, et al. Among authors: hambleton s. Nat Genet. 2021 Apr;53(4):500-510. doi: 10.1038/s41588-021-00803-4. Epub 2021 Mar 29. Nat Genet. 2021. PMID: 33782605 Free PMC article.
206 results