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Immunoglobulin Replacement Therapy Versus Antibiotic Prophylaxis as Treatment for Incomplete Primary Antibody Deficiency.
Smits BM, Kleine Budde I, de Vries E, Ten Berge IJM, Bredius RGM, van Deuren M, van Dissel JT, Ellerbroek PM, van der Flier M, van Hagen PM, Nieuwhof C, Rutgers B, Sanders LEAM, Simon A, Kuijpers TW, van Montfrans JM. Smits BM, et al. Among authors: simon a. J Clin Immunol. 2021 Feb;41(2):382-392. doi: 10.1007/s10875-020-00841-3. Epub 2020 Nov 18. J Clin Immunol. 2021. PMID: 33206257 Free PMC article. Clinical Trial.
Cytokine production assays reveal discriminatory immune defects in adults with recurrent infections and noninfectious inflammation.
Ten Oever J, van de Veerdonk FL, Joosten LA, Simon A, van Crevel R, Kullberg BJ, Gyssens IC, van der Meer JW, van Deuren M, Netea MG. Ten Oever J, et al. Among authors: simon a. Clin Vaccine Immunol. 2014 Aug;21(8):1061-9. doi: 10.1128/CVI.00152-14. Epub 2014 May 28. Clin Vaccine Immunol. 2014. PMID: 24872512 Free PMC article.
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.
Arts P, Simons A, AlZahrani MS, Yilmaz E, AlIdrissi E, van Aerde KJ, Alenezi N, AlGhamdi HA, AlJubab HA, Al-Hussaini AA, AlManjomi F, Alsaad AB, Alsaleem B, Andijani AA, Asery A, Ballourah W, Bleeker-Rovers CP, van Deuren M, van der Flier M, Gerkes EH, Gilissen C, Habazi MK, Hehir-Kwa JY, Henriet SS, Hoppenreijs EP, Hortillosa S, Kerkhofs CH, Keski-Filppula R, Lelieveld SH, Lone K, MacKenzie MA, Mensenkamp AR, Moilanen J, Nelen M, Ten Oever J, Potjewijd J, van Paassen P, Schuurs-Hoeijmakers JHM, Simon A, Stokowy T, van de Vorst M, Vreeburg M, Wagner A, van Well GTJ, Zafeiropoulou D, Zonneveld-Huijssoon E, Veltman JA, van Zelst-Stams WAG, Faqeih EA, van de Veerdonk FL, Netea MG, Hoischen A. Arts P, et al. Among authors: simon a. Genome Med. 2019 Jun 17;11(1):38. doi: 10.1186/s13073-019-0649-3. Genome Med. 2019. PMID: 31203817 Free PMC article.
Curation and expansion of Human Phenotype Ontology for defined groups of inborn errors of immunity.
Haimel M, Pazmandi J, Heredia RJ, Dmytrus J, Bal SK, Zoghi S, van Daele P, Briggs TA, Wouters C, Bader-Meunier B, Aeschlimann FA, Caorsi R, Eleftheriou D, Hoppenreijs E, Salzer E, Bakhtiar S, Derfalvi B, Saettini F, Kusters MAA, Elfeky R, Trück J, Rivière JG, van der Burg M, Gattorno M, Seidel MG, Burns S, Warnatz K, Hauck F, Brogan P, Gilmour KC, Schuetz C, Simon A, Bock C, Hambleton S, de Vries E, Robinson PN, van Gijn M, Boztug K. Haimel M, et al. Among authors: simon a. J Allergy Clin Immunol. 2022 Jan;149(1):369-378. doi: 10.1016/j.jaci.2021.04.033. Epub 2021 May 12. J Allergy Clin Immunol. 2022. PMID: 33991581 Free PMC article.
Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa.
Siemiatkowska AM, van den Born LI, van Hagen PM, Stoffels M, Neveling K, Henkes A, Kipping-Geertsema M, Hoefsloot LH, Hoyng CB, Simon A, den Hollander AI, Cremers FPM, Collin RWJ. Siemiatkowska AM, et al. Among authors: simon a. Ophthalmology. 2013 Dec;120(12):2697-2705. doi: 10.1016/j.ophtha.2013.07.052. Epub 2013 Sep 29. Ophthalmology. 2013. PMID: 24084495
MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease.
Stoffels M, Szperl A, Simon A, Netea MG, Plantinga TS, van Deuren M, Kamphuis S, Lachmann HJ, Cuppen E, Kloosterman WP, Frenkel J, van Diemen CC, Wijmenga C, van Gijn M, van der Meer JW. Stoffels M, et al. Among authors: simon a. Ann Rheum Dis. 2014 Feb;73(2):455-61. doi: 10.1136/annrheumdis-2012-202580. Epub 2013 Mar 16. Ann Rheum Dis. 2014. PMID: 23505238
Myeloid lineage-restricted somatic mosaicism of NLRP3 mutations in patients with variant Schnitzler syndrome.
de Koning HD, van Gijn ME, Stoffels M, Jongekrijg J, Zeeuwen PL, Elferink MG, Nijman IJ, Jansen PA, Neveling K, van der Meer JW, Schalkwijk J, Simon A. de Koning HD, et al. Among authors: simon a. J Allergy Clin Immunol. 2015 Feb;135(2):561-4. doi: 10.1016/j.jaci.2014.07.050. Epub 2014 Sep 16. J Allergy Clin Immunol. 2015. PMID: 25239704 No abstract available.
Defective protein prenylation is a diagnostic biomarker of mevalonate kinase deficiency.
Munoz MA, Jurczyluk J, Mehr S, Chai RC, Arts RJW, Sheu A, McMahon C, Center JR, Singh-Grewal D, Chaitow J, Campbell DE, Quinn JMW, Alexandrov K, Tnimov Z, Tangye SG, Simon A, Phan TG, Rogers MJ. Munoz MA, et al. Among authors: simon a. J Allergy Clin Immunol. 2017 Sep;140(3):873-875.e6. doi: 10.1016/j.jaci.2017.02.033. Epub 2017 May 10. J Allergy Clin Immunol. 2017. PMID: 28501347 Free article. No abstract available.
4,395 results