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Page 1
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. Among authors: grainger a. 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.
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: grainger a. 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.
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: grainger a. 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.
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: grainger a. 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.
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: grainger a. Sci Immunol. 2019 Dec 13;4(42):eaav7501. doi: 10.1126/sciimmunol.aav7501. Sci Immunol. 2019. PMID: 31836668 Free PMC article.
A Novel Case of Homozygous Interferon Alpha/Beta Receptor Alpha Chain (IFNAR1) Deficiency With Hemophagocytic Lymphohistiocytosis.
Gothe F, Hatton CF, Truong L, Klimova Z, Kanderova V, Fejtkova M, Grainger A, Bigley V, Perthen J, Mitra D, Janda A, Fronkova E, Moravcikova D, Hambleton S, Duncan CJA. Gothe F, et al. Among authors: grainger a. Clin Infect Dis. 2022 Jan 7;74(1):136-139. doi: 10.1093/cid/ciaa1790. Clin Infect Dis. 2022. PMID: 33252644 Free PMC article.
Principles of temperature monitoring.
Grainger A. Grainger A. Nurs Stand. 2013 Aug 14-20;27(50):48-55. doi: 10.7748/ns2013.08.27.50.48.e7242. Nurs Stand. 2013. PMID: 23944825
232 results