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Page 1
Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2.
Duncan CJA, Thompson BJ, Chen R, Rice GI, Gothe F, Young DF, Lovell SC, Shuttleworth VG, Brocklebank V, Corner B, Skelton AJ, Bondet V, Coxhead J, Duffy D, Fourrage C, Livingston JH, Pavaine J, Cheesman E, Bitetti S, Grainger A, Acres M, Innes BA, Mikulasova A, Sun R, Hussain R, Wright R, Wynn R, Zarhrate M, Zeef LAH, Wood K, Hughes SM, Harris CL, Engelhardt KR, Crow YJ, Randall RE, Kavanagh D, Hambleton S, Briggs TA. Duncan CJA, et al. Among authors: engelhardt kr. Sci Immunol. 2019 Dec 13;4(42):eaav7501. doi: 10.1126/sciimmunol.aav7501. Sci Immunol. 2019. PMID: 31836668 Free PMC article.
Astute Clinician Report: A Novel 10 bp Frameshift Deletion in Exon 2 of ICOS Causes a Combined Immunodeficiency Associated with an Enteritis and Hepatitis.
Robertson N, Engelhardt KR, Morgan NV, Barge D, Cant AJ, Hughes SM, Abinun M, Xu Y, Koref MS, Arkwright PD, Hambleton S. Robertson N, et al. Among authors: engelhardt kr. J Clin Immunol. 2015 Oct;35(7):598-603. doi: 10.1007/s10875-015-0193-x. Epub 2015 Sep 23. J Clin Immunol. 2015. PMID: 26399252 Free PMC article.
Human IFNAR2 deficiency: Lessons for antiviral immunity.
Duncan CJ, Mohamad SM, Young DF, Skelton AJ, Leahy TR, Munday DC, Butler KM, Morfopoulou S, Brown JR, Hubank M, Connell J, Gavin PJ, McMahon C, Dempsey E, Lynch NE, Jacques TS, Valappil M, Cant AJ, Breuer J, Engelhardt KR, Randall RE, Hambleton S. Duncan CJ, et al. Among authors: engelhardt kr. Sci Transl Med. 2015 Sep 30;7(307):307ra154. doi: 10.1126/scitranslmed.aac4227. Sci Transl Med. 2015. PMID: 26424569 Free PMC article.
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: engelhardt kr. 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: engelhardt kr. 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.
Hematopoietic stem cell transplantation for CTLA4 deficiency.
Slatter MA, Engelhardt KR, Burroughs LM, Arkwright PD, Nademi Z, Skoda-Smith S, Hagin D, Kennedy A, Barge D, Flood T, Abinun M, Wynn RF, Gennery AR, Cant AJ, Sansom D, Hambleton S, Torgerson TR. Slatter MA, et al. Among authors: engelhardt kr. J Allergy Clin Immunol. 2016 Aug;138(2):615-619.e1. doi: 10.1016/j.jaci.2016.01.045. Epub 2016 Apr 18. J Allergy Clin Immunol. 2016. PMID: 27102614 No abstract available.
Identification of Heterozygous Single- and Multi-exon Deletions in IL7R by Whole Exome Sequencing.
Engelhardt KR, Xu Y, Grainger A, Germani Batacchi MG, Swan DJ, Willet JD, Abd Hamid IJ, Agyeman P, Barge D, Bibi S, Jenkins L, Flood TJ, Abinun M, Slatter MA, Gennery AR, Cant AJ, Santibanez Koref M, Gilmour K, Hambleton S. Engelhardt KR, et al. J Clin Immunol. 2017 Jan;37(1):42-50. doi: 10.1007/s10875-016-0343-9. Epub 2016 Nov 2. J Clin Immunol. 2017. PMID: 27807805 Free PMC article.
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: engelhardt kr. 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.
ZNF341 controls STAT3 expression and thereby immunocompetence.
Frey-Jakobs S, Hartberger JM, Fliegauf M, Bossen C, Wehmeyer ML, Neubauer JC, Bulashevska A, Proietti M, Fröbel P, Nöltner C, Yang L, Rojas-Restrepo J, Langer N, Winzer S, Engelhardt KR, Glocker C, Pfeifer D, Klein A, Schäffer AA, Lagovsky I, Lachover-Roth I, Béziat V, Puel A, Casanova JL, Fleckenstein B, Weidinger S, Kilic SS, Garty BZ, Etzioni A, Grimbacher B. Frey-Jakobs S, et al. Among authors: engelhardt kr. Sci Immunol. 2018 Jun 15;3(24):eaat4941. doi: 10.1126/sciimmunol.aat4941. Sci Immunol. 2018. PMID: 29907690 Free PMC article.
45 results