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31 results

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Page 1
Aberrant inflammatory responses to type I interferon in STAT2 or IRF9 deficiency.
Gothe F, Stremenova Spegarova J, Hatton CF, Griffin H, Sargent T, Cowley SA, James W, Roppelt A, Shcherbina A, Hauck F, Reyburn HT, Duncan CJA, Hambleton S. Gothe F, et al. J Allergy Clin Immunol. 2022 Oct;150(4):955-964.e16. doi: 10.1016/j.jaci.2022.01.026. Epub 2022 Feb 17. J Allergy Clin Immunol. 2022. PMID: 35182547 Free article.
Successful atorvastatin treatment of pulmonary alveolar proteinosis in a child with GM-CSF receptor deficiency.
Nayır Büyükşahin H, Yalçın E, Özdemir A, Haliloglu M, Orhan D, Griese M, Gothe F, Rapp C, Hardenberg SGV, Debbağ S, Güzelkaş İ, Emiralioğlu N, Doğru D, Özçelik U, Kiper N. Nayır Büyükşahin H, et al. Among authors: gothe f. Pediatr Pulmonol. 2024 Jun;59(6):1777-1780. doi: 10.1002/ppul.26946. Epub 2024 Feb 27. Pediatr Pulmonol. 2024. PMID: 38411295 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: 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.
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.
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.
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.
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 Free PMC article. No abstract available.
Single-cell multi-omics analysis of the immune response in COVID-19.
Stephenson E, Reynolds G, Botting RA, Calero-Nieto FJ, Morgan MD, Tuong ZK, Bach K, Sungnak W, Worlock KB, Yoshida M, Kumasaka N, Kania K, Engelbert J, Olabi B, Spegarova JS, Wilson NK, Mende N, Jardine L, Gardner LCS, Goh I, Horsfall D, McGrath J, Webb S, Mather MW, Lindeboom RGH, Dann E, Huang N, Polanski K, Prigmore E, Gothe F, Scott J, Payne RP, Baker KF, Hanrath AT, Schim van der Loeff ICD, Barr AS, Sanchez-Gonzalez A, Bergamaschi L, Mescia F, Barnes JL, Kilich E, de Wilton A, Saigal A, Saleh A, Janes SM, Smith CM, Gopee N, Wilson C, Coupland P, Coxhead JM, Kiselev VY, van Dongen S, Bacardit J, King HW; Cambridge Institute of Therapeutic Immunology and Infectious Disease-National Institute of Health Research (CITIID-NIHR) COVID-19 BioResource Collaboration; Rostron AJ, Simpson AJ, Hambleton S, Laurenti E, Lyons PA, Meyer KB, Nikolić MZ, Duncan CJA, Smith KGC, Teichmann SA, Clatworthy MR, Marioni JC, Göttgens B, Haniffa M. Stephenson E, et al. Among authors: gothe f. Nat Med. 2021 May;27(5):904-916. doi: 10.1038/s41591-021-01329-2. Epub 2021 Apr 20. Nat Med. 2021. PMID: 33879890 Free PMC article.
31 results