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Page 1
Systemic Inflammation and Normocytic Anemia in DOCK11 Deficiency.
Block J, Rashkova C, Castanon I, Zoghi S, Platon J, Ardy RC, Fujiwara M, Chaves B, Schoppmeyer R, van der Made CI, Jimenez Heredia R, Harms FL, Alavi S, Alsina L, Sanchez Moreno P, Ávila Polo R, Cabrera-Pérez R, Kostel Bal S, Pfajfer L, Ransmayr B, Mautner AK, Kondo R, Tinnacher A, Caldera M, Schuster M, Domínguez Conde C, Platzer R, Salzer E, Boyer T, Brunner HG, Nooitgedagt-Frons JE, Iglesias E, Deyà-Martinez A, Camacho-Lovillo M, Menche J, Bock C, Huppa JB, Pickl WF, Distel M, Yoder JA, Traver D, Engelhardt KR, Linden T, Kager L, Hannich JT, Hoischen A, Hambleton S, Illsinger S, Da Costa L, Kutsche K, Chavoshzadeh Z, van Buul JD, Antón J, Calzada-Hernández J, Neth O, Viaud J, Nishikimi A, Dupré L, Boztug K. Block J, et al. Among authors: van der made ci. N Engl J Med. 2023 Aug 10;389(6):527-539. doi: 10.1056/NEJMoa2210054. Epub 2023 Jun 21. N Engl J Med. 2023. PMID: 37342957
Presence of Genetic Variants Among Young Men With Severe COVID-19.
van der Made CI, Simons A, Schuurs-Hoeijmakers J, van den Heuvel G, Mantere T, Kersten S, van Deuren RC, Steehouwer M, van Reijmersdal SV, Jaeger M, Hofste T, Astuti G, Corominas Galbany J, van der Schoot V, van der Hoeven H, Hagmolen Of Ten Have W, Klijn E, van den Meer C, Fiddelaers J, de Mast Q, Bleeker-Rovers CP, Joosten LAB, Yntema HG, Gilissen C, Nelen M, van der Meer JWM, Brunner HG, Netea MG, van de Veerdonk FL, Hoischen A. van der Made CI, et al. Among authors: van deuren rc, van reijmersdal sv, van den heuvel g, van der hoeven h, van de veerdonk fl, van der meer jwm, van der schoot v, van den meer c. JAMA. 2020 Aug 18;324(7):663-673. doi: 10.1001/jama.2020.13719. JAMA. 2020. PMID: 32706371 Free PMC article.
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: van reijmersdal sv, van de veerdonk fl, van rijssen e, van der made ci. Elife. 2022 Oct 17;11:e78469. doi: 10.7554/eLife.78469. Elife. 2022. PMID: 36250618 Free PMC article.
"Deficiency in ELF4, X-Linked": a Monogenic Disease Entity Resembling Behçet's Syndrome and Inflammatory Bowel Disease.
Olyha SJ, O'Connor SK, Kribis M, Bucklin ML, Uthaya Kumar DB, Tyler PM, Alam F, Jones KM, Sheikha H, Konnikova L, Lakhani SA, Montgomery RR, Catanzaro J, Du H, DiGiacomo DV, Rothermel H, Moran CJ, Fiedler K, Warner N, Hoppenreijs EPAH, van der Made CI, Hoischen A, Olbrich P, Neth O, Rodríguez-Martínez A, Lucena Soto JM, van Rossum AMC, Dalm VASH, Muise AM, Lucas CL. Olyha SJ, et al. Among authors: van der made ci. J Clin Immunol. 2024 Jan 17;44(2):44. doi: 10.1007/s10875-023-01610-8. J Clin Immunol. 2024. PMID: 38231408
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. Among authors: van de veerdonk fl, van paassen p, van gijn me, van der veken lt, van daele pla. 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
22 results