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Page 1
Human autoinflammatory disease reveals ELF4 as a transcriptional regulator of inflammation.
Tyler PM, Bucklin ML, Zhao M, Maher TJ, Rice AJ, Ji W, Warner N, Pan J, Morotti R, McCarthy P, Griffiths A, van Rossum AMC, Hollink IHIM, Dalm VASH, Catanzaro J, Lakhani SA, Muise AM, Lucas CL. Tyler PM, et al. Among authors: hollink ihim. Nat Immunol. 2021 Sep;22(9):1118-1126. doi: 10.1038/s41590-021-00984-4. Epub 2021 Jul 29. Nat Immunol. 2021. PMID: 34326534 Free PMC article.
Three patients with defects in interferon gamma receptor signaling: A challenging diagnosis.
Zhou Z, Hollink IHIM, Bouman A, Lourens MS, Brooimans RA, van Ham TJ, Fraaij PLA, van Rossum AMC, Zijtregtop EAM, Dik WA, Dalm VASH, van Hagen PM, Ijspeert H, Vermont CL. Zhou Z, et al. Among authors: hollink ihim. Pediatr Allergy Immunol. 2022 Apr;33(4):e13768. doi: 10.1111/pai.13768. Pediatr Allergy Immunol. 2022. PMID: 35470942 Free PMC article. No abstract available.
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: hollink ihim. Front Immunol. 2021 Dec 21;12:780134. doi: 10.3389/fimmu.2021.780134. eCollection 2021. Front Immunol. 2021. PMID: 34992599 Free PMC article.
Duplication of the IL2RA locus causes excessive IL-2 signaling and may predispose to very early onset colitis.
Joosse ME, Charbit-Henrion F, Boisgard R, Raatgeep RHC, Lindenbergh-Kortleve DJ, Costes LMM, Nugteren S, Guegan N, Parlato M, Veenbergen S, Malan V, Nowak JK, Hollink IHIM, Mearin ML, Escher JC, Cerf-Bensussan N, Samsom JN. Joosse ME, et al. Among authors: hollink ihim. Mucosal Immunol. 2021 Sep;14(5):1172-1182. doi: 10.1038/s41385-021-00423-5. Epub 2021 Jul 5. Mucosal Immunol. 2021. PMID: 34226674 Free PMC article.
Human TBK1 deficiency leads to autoinflammation driven by TNF-induced cell death.
Taft J, Markson M, Legarda D, Patel R, Chan M, Malle L, Richardson A, Gruber C, Martín-Fernández M, Mancini GMS, van Laar JAM, van Pelt P, Buta S, Wokke BHA, Sabli IKD, Sancho-Shimizu V, Chavan PP, Schnappauf O, Khubchandani R, Cüceoğlu MK, Özen S, Kastner DL, Ting AT, Aksentijevich I, Hollink IHIM, Bogunovic D. Taft J, et al. Among authors: hollink ihim. Cell. 2021 Aug 19;184(17):4447-4463.e20. doi: 10.1016/j.cell.2021.07.026. Epub 2021 Aug 6. Cell. 2021. PMID: 34363755 Free PMC article.
Parents' Perspectives and Societal Acceptance of Implementation of Newborn Screening for SCID in the Netherlands.
Blom M, Bredius RGM, Jansen ME, Weijman G, Kemper EA, Vermont CL, Hollink IHIM, Dik WA, van Montfrans JM, van Gijn ME, Henriet SS, van Aerde KJ, Koole W, Lankester AC, Dekkers EHBM, Schielen PCJI, de Vries MC, Henneman L, van der Burg M; SONNET-Study Group. Blom M, et al. Among authors: hollink ihim. J Clin Immunol. 2021 Jan;41(1):99-108. doi: 10.1007/s10875-020-00886-4. Epub 2020 Oct 18. J Clin Immunol. 2021. PMID: 33070266 Free PMC article.
Noninvasive prenatal testing as compared to chorionic villus sampling is more sensitive for the detection of confined placental mosaicism involving the cytotrophoblast.
Van Opstal D, Eggenhuizen GM, Joosten M, Diderich K, Govaerts L, Galjaard RJ, Go A, Knapen M, Boter M, Cheung WY, van Koetsveld N, van Veen S, de Valk WG, Jehee F, de Vries F, Hollink I, Hoefsloot L, Srebniak M. Van Opstal D, et al. Prenat Diagn. 2020 Sep;40(10):1338-1342. doi: 10.1002/pd.5766. Epub 2020 Jun 29. Prenat Diagn. 2020. PMID: 32533714 Free PMC article. No abstract available.
National external quality assessment for next-generation sequencing-based diagnostics of primary immunodeficiencies.
Elsink K, Huibers MMH, Hollink IHIM, van der Veken LT, Ernst RF, Simons A, Zonneveld-Huijssoon E, van der Hout AH, Abbott KM, Hoischen A, Pieterse M, Kuijpers TW, van Montfrans JM, van Gijn ME. Elsink K, et al. Among authors: hollink ihim. Eur J Hum Genet. 2021 Jan;29(1):20-28. doi: 10.1038/s41431-020-0702-0. Epub 2020 Jul 30. Eur J Hum Genet. 2021. PMID: 32733070 Free PMC article.
34 results