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Year Number of Results
2010 1
2011 2
2012 2
2013 1
2016 2
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2022 5
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23 results

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Page 1
Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndrome.
van der Made CI, Kersten S, Chorin O, Engelhardt KR, Ramakrishnan G, Griffin H, Schim van der Loeff I, Venselaar H, Rothschild AR, Segev M, Schuurs-Hoeijmakers JHM, Mantere T, Essers R, Esteki MZ, Avital AL, Loo PS, Simons A, Pfundt R, Warris A, Seyger MM, van de Veerdonk FL, Netea MG, Slatter MA, Flood T, Gennery AR, Simon AJ, Lev A, Frizinsky S, Barel O, van der Burg M, Somech R, Hambleton S, Henriet SSV, Hoischen A. van der Made CI, et al. Among authors: henriet ssv. Am J Hum Genet. 2024 Apr 4;111(4):791-804. doi: 10.1016/j.ajhg.2024.02.013. Epub 2024 Mar 18. Am J Hum Genet. 2024. PMID: 38503300
Severe Immune-Related Enteritis after In Utero Exposure to Pembrolizumab.
Baarslag MA, Heimovaara JH, Borgers JSW, van Aerde KJ, Koenen HJPM, Smeets RL, Buitelaar PLM, Pluim D, Vos S, Henriet SSV, de Groot JWB, van Grotel M, Rosing H, Beijnen JH, Huitema ADR, Haanen JBAG, Amant F, Gierenz N. Baarslag MA, et al. Among authors: henriet ssv. N Engl J Med. 2023 Nov 9;389(19):1790-1796. doi: 10.1056/NEJMoa2308135. N Engl J Med. 2023. PMID: 37937778
Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study.
Hebert A, Simons A, Schuurs-Hoeijmakers JHM, Koenen HJPM, Zonneveld-Huijssoon E, Henriet SSV, Schatorjé EJH, Hoppenreijs EPAH, Leenders EKSM, Janssen EJM, Santen GWE, de Munnik SA, van Reijmersdal SV, van Rijssen E, Kersten S, Netea MG, Smeets RL, van de Veerdonk FL, Hoischen A, van der Made CI. Hebert A, et al. Among authors: henriet ssv. Elife. 2022 Oct 17;11:e78469. doi: 10.7554/eLife.78469. Elife. 2022. PMID: 36250618 Free PMC article.
Quality of life in children receiving treatment for Mycobacterium abscessus otomastoiditis.
Leow TYS, Bekkers S, Janssen AM, Pegge SAH, Kunst HPM, Waterval JJ, Jansen TTG, Henriet SSV, van Aerde KJ, van Ingen J, Hol MKS. Leow TYS, et al. Among authors: henriet ssv. Clin Otolaryngol. 2022 Jul;47(4):529-535. doi: 10.1111/coa.13931. Epub 2022 Mar 30. Clin Otolaryngol. 2022. PMID: 35340110 Free PMC article. No abstract available.
Endocarditis Caused by Nontypeable Streptococcus pneumoniae.
Henriet SSV, Langereis JD, Lo SW, Bentley S, Mesman RJ, Fejzic Z, van Niftrik L, van Sorge NM, Wertheim HFL, de Jonge MI, Cremers AJH. Henriet SSV, et al. Clin Infect Dis. 2022 Sep 10;75(4):719-722. doi: 10.1093/cid/ciac079. Clin Infect Dis. 2022. PMID: 35134152 Free PMC article.
Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers.
Elsink K, Huibers MMH, Hollink IHIM, Simons A, Zonneveld-Huijssoon E, van der Veken LT, Leavis HL, Henriet SSV, van Deuren M, van de Veerdonk FL, Potjewijd J, Berghuis D, Dalm VASH, Vermont CL, van de Ven AAJM, Lambeck AJA, Abbott KM, van Hagen PM, de Bree GJ, Kuijpers TW, Frederix GWJ, van Gijn ME, van Montfrans JM; Genetics First for Primary Immunodeficiency Disorders Consortium. Elsink K, et al. Among authors: henriet ssv. Front Immunol. 2021 Dec 21;12:780134. doi: 10.3389/fimmu.2021.780134. eCollection 2021. Front Immunol. 2021. PMID: 34992599 Free PMC article.
Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations.
Thalhammer J, Kindle G, Nieters A, Rusch S, Seppänen MRJ, Fischer A, Grimbacher B, Edgar D, Buckland M, Mahlaoui N, Ehl S; European Society for Immunodeficiencies Registry Working Party. Thalhammer J, et al. J Allergy Clin Immunol. 2021 Nov;148(5):1332-1341.e5. doi: 10.1016/j.jaci.2021.04.015. Epub 2021 Apr 23. J Allergy Clin Immunol. 2021. PMID: 33895260
23 results