Zobrazeno 1 - 10
of 1 321
pro vyhledávání: '"Autoinflammatory syndrome"'
Autor:
Kosar Asna Ashari, Nima Parvaneh, Kayvan Mirnia, Mehri Ayati, Maryam Saeedi, Farhad Salehzadeh, Mohammad Shahrooei, Razieh Sangsari, Pejman Rohani, Vahid Ziaee
Publikováno v:
Pediatric Rheumatology Online Journal, Vol 22, Iss 1, Pp 1-7 (2024)
Abstract Background Gain of function (GOF) mutations in NOD-like receptor family CARD-containing 4 protein (NLRC4) gene induce a wide spectrum of autoinflammatory phenotypes. Currently, we categorize them into four groups: familial cold autoinflammat
Externí odkaz:
https://doaj.org/article/028afa411aba48dba285ddbd43f4f0f5
Autor:
Mohammadkian Zarafshani, Masoume Avateffazeli, Seyed Masoud Moeini Taba, Reihaneh Faghihi, Sara Beikmohamadi Hezaveh, Vahid Ziaee, Fatemeh Tahghighi, Maryam Loghman
Publikováno v:
Clinical Case Reports, Vol 12, Iss 11, Pp n/a-n/a (2024)
ABSTRACT The deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive disorder caused by loss of function mutations in the ADA2 gene (previously the CECR1 gene) on chromosome 22q11. The clinical spectrum of the disease is remarkably broa
Externí odkaz:
https://doaj.org/article/b9601682c6fe470fb5065fce728332dc
Autor:
Frederik Staels, Leoni Bücken, Leana De Vuyst, Mathijs Willemsen, Erika Van Nieuwenhove, Margaux Gerbaux, Julika Neumann, Vanshika Malviya, Lize Van Meerbeeck, Jeason Haughton, Laura Seldeslachts, Mieke Gouwy, Kimberly Martinod, Greetje Vande Velde, Paul Proost, Lidia Yshii, Susan Schlenner, Rik Schrijvers, Adrian Liston, Stephanie Humblet-Baron
Publikováno v:
Frontiers in Immunology, Vol 15 (2024)
Recently, OTULIN haploinsufficiency was linked to enhanced susceptibility to Staphylococcus aureus infections accompanied by local necrosis and systemic inflammation. The pathogenesis observed in haploinsufficient patients differs from the hyperinfla
Externí odkaz:
https://doaj.org/article/5abaa29f9c754698bb267d4fe1544942
Publikováno v:
Научно-практическая ревматология, Vol 61, Iss 4, Pp 458-465 (2023)
The article is dedicated to a new actual problem in rheumatology: vasculitis and vasculitis-like manifestations in monogenic autoinflammatory syndromes in adult. The features of the clinical course of the rarely diagnosed VEXAS syndrome, as well as t
Externí odkaz:
https://doaj.org/article/4e043141352b436891e31e8f4161bdd0
Autor:
Bashayr M. Alotaibi, Raquel Lopez Rodriguez, Carmen Venegas Garrido, Lucia Gonzalez Bravo, Nader Khalidi, Parameswaran Nair
Publikováno v:
Allergy, Asthma & Clinical Immunology, Vol 19, Iss 1, Pp 1-5 (2023)
Abstract Background Respiratory conditions, such as asthma, are infrequently associated with auto-inflammatory diseases. We describe five patients with uncontrolled respiratory symptoms that were seen at St. Joesph’s Healthcare in Hamilton for seve
Externí odkaz:
https://doaj.org/article/b473d2397e3142ba8d055322d70550cb
Autor:
Kosar Asna Ashari, Nahid Aslani, Nima Parvaneh, Raheleh Assari, Morteza Heidari, Mohammadreza Fathi, Fatemeh Tahghighi Sharabian, Alireza Ronagh, Mohammad Shahrooei, Alireza Moafi, Nima Rezaei, Vahid Ziaee
Publikováno v:
Pediatric Rheumatology Online Journal, Vol 21, Iss 1, Pp 1-8 (2023)
Abstract Background Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive autoinflammatory disease caused by mutations in the ADA2 gene. DADA2 has a broad spectrum of clinical presentations. Apart from systemic manifestations, we can
Externí odkaz:
https://doaj.org/article/4049764426fb404f90cf42653a6acc8d
Publikováno v:
Genes and Diseases, Vol 10, Iss 3, Pp 1090-1100 (2023)
Nod-like receptor family pyrin domain-containing protein 12 (NLRP12) is one of the critical pattern recognition receptors which participates in the regulation of multiple inflammatory responses. Mutations in NLRP12 cause exceptionally rare NLRP12-ass
Externí odkaz:
https://doaj.org/article/e807c748f74b4bcc81b7d06afa033122
Autor:
N. V. Shakhova, V. V. Burenkina
Publikováno v:
Аллергология и Иммунология в Педиатрии, Vol 0, Iss 2, Pp 66-68 (2023)
Externí odkaz:
https://doaj.org/article/188393786aff4d6498e08c5cac6e9820
Autor:
Vaibhav Singhal, Sushil Gupta
Publikováno v:
Indian Journal of Endocrinology and Metabolism, Vol 27, Iss 6, Pp 524-529 (2023)
Introduction: Thyrotoxicosis is not uncommon after immunization. It is known as 'autoimmune/autoinflammatory syndrome by adjuvants (ASIA syndrome)' and is caused by immunological reaction to adjuvants. However, there is insufficient information on th
Externí odkaz:
https://doaj.org/article/e5d0cb373e4d4e43811df4a86dac704d
Autor:
G. A. Davydova, T. A. Lisitsyna, L. A. Kovaleva, E. S. Sorozhkina, A. A. Zaitseva, A. A. Baisangurova
Publikováno v:
Oftalʹmologiâ, Vol 19, Iss 4, Pp 719-726 (2023)
In the previous part of the review clinical and diagnostic aspects of some non-infectious uveitis in patients with immunoinflammatory diseases were discussed. In this part we proceed the discussion of ocular manifestations of a number of other immuno
Externí odkaz:
https://doaj.org/article/e39073f74b9e4c82abd4d538ca75b9d8