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Page 1
Autoinflammation due to homozygous S208 MEFV mutation.
Hong Y, Standing ASI, Nanthapisal S, Sebire N, Jolles S, Omoyinmi E, Verstegen RH, Brogan PA, Eleftheriou D. Hong Y, et al. Among authors: jolles s. Ann Rheum Dis. 2019 Apr;78(4):571-573. doi: 10.1136/annrheumdis-2018-214102. Epub 2018 Oct 24. Ann Rheum Dis. 2019. PMID: 30355575 Free PMC article. No abstract available.
Anti-tumour necrosis factor treatment for the prevention of ischaemic events in patients with deficiency of adenosine deaminase 2 (DADA2).
Cooray S, Omyinmi E, Hong Y, Papadopoulou C, Harper L, Al-Abadi E, Goel R, Dubey S, Wood M, Jolles S, Berg S, Ekelund M, Armon K, Eleftheriou D, Brogan PA. Cooray S, et al. Among authors: jolles s. Rheumatology (Oxford). 2021 Sep 1;60(9):4373-4378. doi: 10.1093/rheumatology/keaa837. Rheumatology (Oxford). 2021. PMID: 33420503
Autosomal Dominant STAT6 Gain of Function Causes Severe Atopy Associated with Lymphoma.
Minskaia E, Maimaris J, Jenkins P, Albuquerque AS, Hong Y, Eleftheriou D, Gilmour KC, Grace R, Moreira F, Grimbacher B; NIHR Bioresource-Rare Diseases Consortium; Morris EC, Burns SO. Minskaia E, et al. J Clin Immunol. 2023 Oct;43(7):1611-1622. doi: 10.1007/s10875-023-01530-7. Epub 2023 Jun 14. J Clin Immunol. 2023. PMID: 37316763 Free PMC article.
Novel STAT1 Gain-of-Function Mutation Presenting as Combined Immunodeficiency.
Hartono SP, Vargas-Hernández A, Ponsford MJ, Chinn IK, Jolles S, Wilson K, Forbes LR. Hartono SP, et al. Among authors: jolles s. J Clin Immunol. 2018 Oct;38(7):753-756. doi: 10.1007/s10875-018-0554-3. Epub 2018 Oct 13. J Clin Immunol. 2018. PMID: 30317461 No abstract available.
European Society for Immunodeficiencies (ESID) and European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN RITA) Complement Guideline: Deficiencies, Diagnosis, and Management.
Brodszki N, Frazer-Abel A, Grumach AS, Kirschfink M, Litzman J, Perez E, Seppänen MRJ, Sullivan KE, Jolles S. Brodszki N, et al. Among authors: jolles s. J Clin Immunol. 2020 May;40(4):576-591. doi: 10.1007/s10875-020-00754-1. Epub 2020 Feb 17. J Clin Immunol. 2020. PMID: 32064578 Free PMC article.
Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension.
Hadinnapola C, Bleda M, Haimel M, Screaton N, Swift A, Dorfmüller P, Preston SD, Southwood M, Hernandez-Sanchez J, Martin J, Treacy C, Yates K, Bogaard H, Church C, Coghlan G, Condliffe R, Corris PA, Gibbs S, Girerd B, Holden S, Humbert M, Kiely DG, Lawrie A, Machado R, MacKenzie Ross R, Moledina S, Montani D, Newnham M, Peacock A, Pepke-Zaba J, Rayner-Matthews P, Shamardina O, Soubrier F, Southgate L, Suntharalingam J, Toshner M, Trembath R, Vonk Noordegraaf A, Wilkins MR, Wort SJ, Wharton J; NIHR BioResource–Rare Diseases Consortium; UK National Cohort Study of Idiopathic and Heritable PAH; Gräf S, Morrell NW. Hadinnapola C, et al. Circulation. 2017 Nov 21;136(21):2022-2033. doi: 10.1161/CIRCULATIONAHA.117.028351. Epub 2017 Sep 28. Circulation. 2017. PMID: 28972005 Free PMC article.
COVID-19 Vaccine Response in People with Multiple Sclerosis.
Tallantyre EC, Vickaryous N, Anderson V, Asardag AN, Baker D, Bestwick J, Bramhall K, Chance R, Evangelou N, George K, Giovannoni G, Godkin A, Grant L, Harding KE, Hibbert A, Ingram G, Jones M, Kang AS, Loveless S, Moat SJ, Robertson NP, Schmierer K, Scurr MJ, Shah SN, Simmons J, Upcott M, Willis M, Jolles S, Dobson R. Tallantyre EC, et al. Among authors: jolles s. Ann Neurol. 2022 Jan;91(1):89-100. doi: 10.1002/ana.26251. Epub 2021 Nov 17. Ann Neurol. 2022. PMID: 34687063 Free PMC article.
Editorial: The Complexity of Primary Antibody Deficiencies.
Quinti I, Spadaro G, Jolles S, Condino-Neto A. Quinti I, et al. Among authors: jolles s. Front Immunol. 2021 Apr 21;12:635482. doi: 10.3389/fimmu.2021.635482. eCollection 2021. Front Immunol. 2021. PMID: 33968027 Free PMC article. No abstract available.
Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.
Lorenzini T, Fliegauf M, Klammer N, Frede N, Proietti M, Bulashevska A, Camacho-Ordonez N, Varjosalo M, Kinnunen M, de Vries E, van der Meer JWM, Ameratunga R, Roifman CM, Schejter YD, Kobbe R, Hautala T, Atschekzei F, Schmidt RE, Schröder C, Stepensky P, Shadur B, Pedroza LA, van der Flier M, Martínez-Gallo M, Gonzalez-Granado LI, Allende LM, Shcherbina A, Kuzmenko N, Zakharova V, Neves JF, Svec P, Fischer U, Ip W, Bartsch O, Barış S, Klein C, Geha R, Chou J, Alosaimi M, Weintraub L, Boztug K, Hirschmugl T, Dos Santos Vilela MM, Holzinger D, Seidl M, Lougaris V, Plebani A, Alsina L, Piquer-Gibert M, Deyà-Martínez A, Slade CA, Aghamohammadi A, Abolhassani H, Hammarström L, Kuismin O, Helminen M, Allen HL, Thaventhiran JE, Freeman AF, Cook M, Bakhtiar S, Christiansen M, Cunningham-Rundles C, Patel NC, Rae W, Niehues T, Brauer N, Syrjänen J, Seppänen MRJ, Burns SO, Tuijnenburg P, Kuijpers TW; NIHR BioResource; Warnatz K, Grimbacher B; NIHR BioResource. Lorenzini T, et al. J Allergy Clin Immunol. 2020 Oct;146(4):901-911. doi: 10.1016/j.jaci.2019.11.051. Epub 2020 Apr 9. J Allergy Clin Immunol. 2020. PMID: 32278790 Free PMC article.
242 results