Zobrazeno 1 - 10
of 340
pro vyhledávání: '"Hyper-IgD syndrome"'
Publikováno v:
Clinical Case Reports, Vol 12, Iss 5, Pp n/a-n/a (2024)
Key Clinical Message This case highlights the potential for later‐onset Hyper‐IgD syndrome (HIDS) even beyond infancy. Clinicians evaluating children with recurrent fever, skin rash, and arthralgia should consider HIDS in the differential diagnos
Externí odkaz:
https://doaj.org/article/edb5bc6ce59b4d24a04a26d309ffb46a
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
ObjectiveBi-allelic pathogenic variants in the MVK gene, which encodes mevalonate kinase (MK), an essential enzyme in isoprenoid biosynthesis, cause the autoinflammatory metabolic disorder mevalonate kinase deficiency (MKD). We generated and characte
Externí odkaz:
https://doaj.org/article/d7dbf338f78b42f79c1c5a5f27834b04
Akademický článek
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Autor:
A. L. Kozlova, V. O. Bludova, V. I. Burlakov, E. V. Raykina, T. V. Varlamova, М. А. Kurnikova, А. N. Remizov, G. V. Tereshchenko, А. А. Moiseeva, S. А. Dibirova, А. L. Khoreva, А. А. Roppelt, Yu. А. Rodina, N. B. Kuzmenko, А. А. Mukhina, Е. I. Каlashnikova, L. N. Igisheva, N. V. Martynova, О. V. Zhogova, S. B. Zimin, О. V. Barabanova, Yu. V. Kotova, G. А. Novichkova, А. Yu. Shcherbina
Publikováno v:
Научно-практическая ревматология, Vol 59, Iss 3, Pp 326-334 (2021)
The aim of this study was to analyze the clinical, laboratory and molecular genetic data of 26 patients (15 boys, 11 girls) diagnosed with mevalonate kinase deficiency syndrome (MKD).Subjects and methods. The age of MKD manifestation ranged from 0 to
Externí odkaz:
https://doaj.org/article/f66c1aefc43645eeae9a70d9f988db5e
Autor:
Philippe Guillem, Dillon Mintoff, Mariam Kabbani, Elie Cogan, Virginie Vlaeminck-Guillem, Agnes Duquesne, Farida Benhadou
Publikováno v:
Frontiers in Immunology, Vol 13 (2022)
Hidradenitis Suppurativa (HS) is a chronic suppurative disease of the pilosebaceous unit. The current model of HS pathophysiology describes the condition as the product of hyperkeratinisation and inflammation at the hair follicular unit. Environmenta
Externí odkaz:
https://doaj.org/article/045bb1bcf49d47e683e57f3cdf626588
Autor:
Frouwkje A. Politiek, Hans R. Waterham
Publikováno v:
Frontiers in Immunology, Vol 12 (2021)
Mevalonate kinase deficiency (MKD) is an autoinflammatory metabolic disorder characterized by life-long recurring episodes of fever and inflammation, often without clear cause. MKD is caused by bi-allelic pathogenic variants in the MVK gene, resultin
Externí odkaz:
https://doaj.org/article/31f6d2a4c60e46088d9662520a8d229c
Autor:
Deepti Suri, Amit Rawat, Ankur Kumar Jindal, Pandiarajan Vignesh, Anju Gupta, Rakesh Kumar Pilania, Vibhu Joshi, Kanika Arora, Rajni Kumrah, Gummadi Anjani, Amita Aggarwal, Shubha Phadke, Fouzia N. Aboobacker, Biju George, Eunice Sindhuvi Edison, Mukesh Desai, Prasad Taur, Vijaya Gowri, Ambreen Abdulwahab Pandrowala, Sagar Bhattad, Swati Kanakia, Marco Gottorno, Isabella Ceccherini, Adriana Almeida de Jesus, Raphaela Goldbach-Mansky, Michael S. Hershfield, Surjit Singh
Publikováno v:
Frontiers in Immunology, Vol 12 (2021)
Background: Systemic autoinflammatory diseases (SAID) are rare inherited disorders involving genes regulating innate immune signaling and are characterized by periodic or chronic multi-systemic inflammation.Objective: To describe spectrum of clinical
Externí odkaz:
https://doaj.org/article/a93420f803dd40d082f9ff6cd12c0cbc
Akademický článek
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Autor:
Jeremy Levy, Tamás Constantin, Joost Frenkel, Brigitte Bader-Meunier, Anna Shcherbina, Elise L. Dekker, Marco Gattorno, Anna Simon, Inmaculada Calvo, Michael Hofer, Jerold Jeyaratnam, Alberto Martini, Fabrizio De Benedetti, Bas Vastert
Publikováno v:
Rheumatology (Oxford, England)
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Rheumatology, 61, 2088-2094
Rheumatology, 61, 5, pp. 2088-2094
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Rheumatology, 61, 2088-2094
Rheumatology, 61, 5, pp. 2088-2094
Objectives To evaluate the long-term efficacy and safety of canakinumab in patients with mevalonate kinase deficiency during the open label extension (weeks 41–113) of the randomized controlled CLUSTER trial. Methods During a 72-week period, patien
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d728bf0ae277e6e87f17388ea71f9e79
https://doi.org/10.1093/rheumatology/keab696
https://doi.org/10.1093/rheumatology/keab696
Autor:
А. N. Remizov, Yu. V. Kotova, А. А. Mukhina, E. V. Raykina, Е. I. Каlashnikova, Yu. А. Rodina, L. N. Igisheva, N. V. Martynova, О. V. Barabanova, A. L. Kozlova, S. А. Dibirova, М. А. Kurnikova, N. B. Kuzmenko, G. А. Novichkova, А. L. Khoreva, T. V. Varlamova, V. O. Bludova, А. Yu. Shcherbina, О. V. Zhogova, G. V. Tereshchenko, V. I. Burlakov, А. А. Roppelt, А. А. Moiseeva, S. B. Zimin
Publikováno v:
Научно-практическая ревматология, Vol 59, Iss 3, Pp 326-334 (2021)
The aimof this study was to analyze the clinical, laboratory and molecular genetic data of 26 patients (15 boys, 11 girls) diagnosed with mevalonate kinase deficiency syndrome (MKD).Subjects and methods. The age of MKD manifestation ranged from 0 to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::024cdf22b9aa3020940f712fe63f59a0
https://doi.org/10.47360/1995-4484-2021-326-334
https://doi.org/10.47360/1995-4484-2021-326-334