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Year Number of Results
2000 1
2012 1
2013 1
2014 1
2015 1
2016 1
2017 1
2018 1
2019 5
2020 3
2021 2
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16 results
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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: gothe f. Sci Immunol. 2019 Dec 13;4(42):eaav7501. doi: 10.1126/sciimmunol.aav7501. Sci Immunol. 2019. PMID: 31836668 Free PMC article.
Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance.
Zhang Z, Gothe F, Pennamen P, James JR, McDonald D, Mata CP, Modis Y, Alazami AM, Acres M, Haller W, Bowen C, Döffinger R, Sinclair J, Brothers S, Zhang Y, Matthews HF, Naudion S, Pelluard F, Alajlan H, Yamazaki Y, Notarangelo LD, Thaventhiran JE, Engelhardt KR, Al-Mousa H, Hambleton S, Rooryck C, Smith KGC, Lenardo MJ. Zhang Z, et al. Among authors: gothe f. J Exp Med. 2019 Jun 3;216(6):1311-1327. doi: 10.1084/jem.20182304. Epub 2019 Apr 30. J Exp Med. 2019. PMID: 31040185 Free PMC article.
JAK inhibition in early-onset somatic, nonclonal STAT5B gain-of-function disease.
Eisenberg R, Gans MD, Leahy TR, Gothe F, Perry C, Raffeld M, Xi L, Blackstone S, Ma C, Hambleton S, Milner JD. Eisenberg R, et al. Among authors: gothe f. J Allergy Clin Immunol Pract. 2021 Feb;9(2):1008-1010.e2. doi: 10.1016/j.jaip.2020.11.050. Epub 2020 Dec 5. J Allergy Clin Immunol Pract. 2021. PMID: 33290916 No abstract available.
A novel case of homozygous IFNAR1 deficiency with haemophagocytic 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. Clin Infect Dis. 2020 Nov 30:ciaa1790. doi: 10.1093/cid/ciaa1790. Online ahead of print. Clin Infect Dis. 2020. PMID: 33252644
CARMIL2 Deficiency Presenting as Very Early Onset Inflammatory Bowel Disease.
Magg T, Shcherbina A, Arslan D, Desai MM, Wall S, Mitsialis V, Conca R, Unal E, Karacabey N, Mukhina A, Rodina Y, Taur PD, Illig D, Marquardt B, Hollizeck S, Jeske T, Gothe F, Schober T, Rohlfs M, Koletzko S, Lurz E, Muise AM, Snapper SB, Hauck F, Klein C, Kotlarz D. Magg T, et al. Among authors: gothe f. Inflamm Bowel Dis. 2019 Oct 18;25(11):1788-1795. doi: 10.1093/ibd/izz103. Inflamm Bowel Dis. 2019. PMID: 31115454 Free PMC article.
Categorizing diffuse parenchymal lung disease in children.
Griese M, Irnstetter A, Hengst M, Burmester H, Nagel F, Ripper J, Feilcke M, Pawlita I, Gothe F, Kappler M, Schams A, Wesselak T, Rauch D, Wittmann T, Lohse P, Brasch F, Kröner C. Griese M, et al. Among authors: gothe f. Orphanet J Rare Dis. 2015 Sep 25;10:122. doi: 10.1186/s13023-015-0339-1. Orphanet J Rare Dis. 2015. PMID: 26408013 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: gothe f. 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.
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