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Page 1
Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations.
Van Montfrans JM, Hartman EA, Braun KP, Hennekam EA, Hak EA, Nederkoorn PJ, Westendorp WF, Bredius RG, Kollen WJ, Schölvinck EH, Legger GE, Meyts I, Liston A, Lichtenbelt KD, Giltay JC, Van Haaften G, De Vries Simons GM, Leavis H, Sanders CJ, Bierings MB, Nierkens S, Van Gijn ME. Van Montfrans JM, et al. Among authors: leavis h. Rheumatology (Oxford). 2016 May;55(5):902-10. doi: 10.1093/rheumatology/kev439. Epub 2016 Feb 10. Rheumatology (Oxford). 2016. PMID: 26867732
A dominant activating RAC2 variant associated with immunodeficiency and pulmonary disease.
Smits BM, Lelieveld PHC, Ververs FA, Turkenburg M, de Koning C, van Dijk M, Leavis HL, Boelens JJ, Lindemans CA, Bloem AC, van de Corput L, van Montfrans J, Nierkens S, van Gijn ME, Geerke DP, Waterham HR, Koenderman L, Boes M. Smits BM, et al. Among authors: leavis hl. Clin Immunol. 2020 Mar;212:108248. doi: 10.1016/j.clim.2019.108248. Epub 2019 Aug 2. Clin Immunol. 2020. PMID: 31382036 No abstract available.
Low IgA Associated With Oropharyngeal Microbiota Changes and Lung Disease in Primary Antibody Deficiency.
Berbers RM, Mohamed Hoesein FAA, Ellerbroek PM, van Montfrans JM, Dalm VASH, van Hagen PM, Paganelli FL, Viveen MC, Rogers MRC, de Jong PA, Uh HW, Willems RJL, Leavis HL. Berbers RM, et al. Among authors: leavis hl. Front Immunol. 2020 Jun 19;11:1245. doi: 10.3389/fimmu.2020.01245. eCollection 2020. Front Immunol. 2020. PMID: 32636843 Free PMC article.
Targeted Proteomics Reveals Inflammatory Pathways that Classify Immune Dysregulation in Common Variable Immunodeficiency.
Berbers RM, Drylewicz J, Ellerbroek PM, van Montfrans JM, Dalm VASH, van Hagen PM, Keller B, Warnatz K, van de Ven A, van Laar JM, Nierkens S, Leavis HL. Berbers RM, et al. Among authors: leavis hl. J Clin Immunol. 2021 Feb;41(2):362-373. doi: 10.1007/s10875-020-00908-1. Epub 2020 Nov 15. J Clin Immunol. 2021. PMID: 33190167 Free PMC article.
Treatment Strategies for GLILD in Common Variable Immunodeficiency: A Systematic Review.
Lamers OAC, Smits BM, Leavis HL, de Bree GJ, Cunningham-Rundles C, Dalm VASH, Ho HE, Hurst JR, IJspeert H, Prevaes SMPJ, Robinson A, van Stigt AC, Terheggen-Lagro S, van de Ven AAJM, Warnatz K, van de Wijgert JHHM, van Montfrans J. Lamers OAC, et al. Among authors: leavis hl. Front Immunol. 2021 Apr 15;12:606099. doi: 10.3389/fimmu.2021.606099. eCollection 2021. Front Immunol. 2021. PMID: 33936030 Free PMC article.
Adult-onset autoinflammation caused by somatic mutations in UBA1: A Dutch case series of patients with VEXAS.
van der Made CI, Potjewijd J, Hoogstins A, Willems HPJ, Kwakernaak AJ, de Sevaux RGL, van Daele PLA, Simons A, Heijstek M, Beck DB, Netea MG, van Paassen P, Elizabeth Hak A, van der Veken LT, van Gijn ME, Hoischen A, van de Veerdonk FL, Leavis HL, Rutgers A. van der Made CI, et al. J Allergy Clin Immunol. 2022 Jan;149(1):432-439.e4. doi: 10.1016/j.jaci.2021.05.014. Epub 2021 May 25. J Allergy Clin Immunol. 2022. PMID: 34048852
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: leavis hl. Front Immunol. 2021 Dec 21;12:780134. doi: 10.3389/fimmu.2021.780134. eCollection 2021. Front Immunol. 2021. PMID: 34992599 Free PMC article.
92 results