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Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome.
Kozycki CT, Kodati S, Huryn L, Wang H, Warner BM, Jani P, Hammoud D, Abu-Asab MS, Jittayasothorn Y, Mattapallil MJ, Tsai WL, Ullah E, Zhou P, Tian X, Soldatos A, Moutsopoulos N, Kao-Hsieh M, Heller T, Cowen EW, Lee CR, Toro C, Kalsi S, Khavandgar Z, Baer A, Beach M, Long Priel D, Nehrebecky M, Rosenzweig S, Romeo T, Deuitch N, Brenchley L, Pelayo E, Zein W, Sen N, Yang AH, Farley G, Sweetser DA, Briere L, Yang J, de Oliveira Poswar F, Schwartz IVD, Silva Alves T, Dusser P, Koné-Paut I, Touitou I, Titah SM, van Hagen PM, van Wijck RTA, van der Spek PJ, Yano H, Benneche A, Apalset EM, Jansson RW, Caspi RR, Kuhns DB, Gadina M, Takada H, Ida H, Nishikomori R, Verrecchia E, Sangiorgi E, Manna R, Brooks BP, Sobrin L, Hufnagel RB, Beck D, Shao F, Ombrello AK, Aksentijevich I, Kastner DL; Undiagnosed Diseases Network. Kozycki CT, et al. Among authors: van hagen pm, van der spek pj, van wijck rta. Ann Rheum Dis. 2022 Oct;81(10):1453-1464. doi: 10.1136/annrheumdis-2022-222629. Epub 2022 Jul 22. Ann Rheum Dis. 2022. PMID: 35868845 Free PMC article.
Contrasting expression pattern of RNA-sensing receptors TLR7, RIG-I and MDA5 in interferon-positive and interferon-negative patients with primary Sjögren's syndrome.
Maria NI, Steenwijk EC, IJpma AS, van Helden-Meeuwsen CG, Vogelsang P, Beumer W, Brkic Z, van Daele PL, van Hagen PM, van der Spek PJ, Drexhage HA, Versnel MA. Maria NI, et al. Among authors: van hagen pm, van helden meeuwsen cg, van der spek pj, van daele pl. Ann Rheum Dis. 2017 Apr;76(4):721-730. doi: 10.1136/annrheumdis-2016-209589. Epub 2016 Sep 26. Ann Rheum Dis. 2017. PMID: 27672125
A Novel Heterozygous Mutation in the STAT1 SH2 Domain Causes Chronic Mucocutaneous Candidiasis, Atypically Diverse Infections, Autoimmunity, and Impaired Cytokine Regulation.
Meesilpavikkai K, Dik WA, Schrijver B, Nagtzaam NM, van Rijswijk A, Driessen GJ, van der Spek PJ, van Hagen PM, Dalm VA. Meesilpavikkai K, et al. Among authors: van hagen pm, van der spek pj, van rijswijk a. Front Immunol. 2017 Mar 13;8:274. doi: 10.3389/fimmu.2017.00274. eCollection 2017. Front Immunol. 2017. PMID: 28348565 Free PMC article.
The complement system in glioblastoma multiforme.
Bouwens van der Vlis TAM, Kros JM, Mustafa DAM, van Wijck RTA, Ackermans L, van Hagen PM, van der Spek PJ. Bouwens van der Vlis TAM, et al. Among authors: van hagen pm, van der spek pj, van wijck rta. Acta Neuropathol Commun. 2018 Sep 12;6(1):91. doi: 10.1186/s40478-018-0591-4. Acta Neuropathol Commun. 2018. PMID: 30208949 Free PMC article. Review.
Molecular clustering of genes related to the atopic syndrome: Towards a more tailored approach and personalized medicine?
de Wit J, van Wijck RTA, Dalm VASH, Snyder KL, Totté JEE, Pasmans SGMA, van der Spek PJ; Academic Center of Excellence (ACE) workgroups Allergic Diseases and Rare Immunological Disease Centre (RIDC). de Wit J, et al. Among authors: van der spek pj, van wijck rta. Clin Transl Allergy. 2019 Jul 10;9:34. doi: 10.1186/s13601-019-0273-8. eCollection 2019. Clin Transl Allergy. 2019. PMID: 31333817 Free PMC article.
Endocrine Disorders Are Prominent Clinical Features in Patients With Primary Antibody Deficiencies.
Coopmans EC, Chunharojrith P, Neggers SJCMM, van der Ent MW, Swagemakers SMA, Hollink IH, Barendregt BH, van der Spek PJ, van der Lely AJ, van Hagen PM, Dalm VASH. Coopmans EC, et al. Among authors: van hagen pm, van der spek pj, van der lely aj, van der ent mw. Front Immunol. 2019 Aug 30;10:2079. doi: 10.3389/fimmu.2019.02079. eCollection 2019. Front Immunol. 2019. PMID: 31543881 Free PMC article.
Altered leukocyte subsets and immune proteome indicate proinflammatory mechanisms in mastocytosis.
Hermans MAW, Heeringa JJ, Swagemakers SGA, Schrijver B, van Daele PLA, van der Spek PJ, van Hagen PM, van Zelm MC, Dik WA. Hermans MAW, et al. Among authors: van hagen pm, van der spek pj, van daele pla, van zelm mc. J Allergy Clin Immunol. 2022 Jul;150(1):146-156.e10. doi: 10.1016/j.jaci.2021.12.786. Epub 2022 Jan 10. J Allergy Clin Immunol. 2022. PMID: 35026208 Free article.
Retinal Pigment Epithelial Cells Control Early Mycobacterium tuberculosis Infection via Interferon Signaling.
La Distia Nora R, Walburg KV, van Hagen PM, Swagemakers SMA, van der Spek PJ, Quinten E, van Velthoven M, Ottenhoff THM, Dik WA, Haks MC. La Distia Nora R, et al. Among authors: van hagen pm, van der spek pj, van velthoven m. Invest Ophthalmol Vis Sci. 2018 Mar 1;59(3):1384-1395. doi: 10.1167/iovs.17-23246. Invest Ophthalmol Vis Sci. 2018. PMID: 29625462
253 results