Results 41 to 50 of about 305 (109)

Genetic Approaches to Study Rheumatic Diseases and Its Implications in Clinical Practice

Arthritis &Rheumatology, Volume 76, Issue 8, Page 1169-1181, August 2024.
Patients with rare and complex rheumatic diseases (RDs) present with immense clinical variability inherent to all immunologic diseases. In addition to systemic and organ‐specific inflammation, patients may display features of immunodeficiency or allergy, which may represent major diagnostic and therapeutic challenges.
Dorota Rowczenio, Ivona Aksentijevich
wiley   +1 more source

The inflammasome adaptor protein ASC promotes amyloid deposition in cryopyrin-associated periodic syndromes

EMBO Molecular Medicine
In this Correspondence, P. Pelegrin and colleagues found that the deposition of amyloid in tissues in Cryopyrin-Associated Periodic Syndrome were promoted by the extracellular presence of the inflammasome adaptor protein ASC, opening exciting new ...
Cristina Alarcón-Vila, Laura Hurtado-Navarro, Sandra V Mateo, Alejandro Peñín-Franch, Carlos M Martínez, Cristina Molina-López, María C Baños, Ana I Gómez, Javier Gómez-Román, Alberto Baroja-Mazo, Juan I Arostegui, Natalia Palmou-Fontana, Juan J Martínez-García, Pablo Pelegrin   +13 more
doaj   +1 more source

Cellular models in autoinflammatory disease research

Clinical &Translational Immunology, Volume 13, Issue 1, 2024.
Understanding the complex mechanisms underlying systemic autoinflammatory diseases is critical for developing effective treatments. Cellular models are essential for identifying new conditions and studying their pathogenesis. In this review, we discuss the different cellular models used in autoinflammatory disease research, their strengths and ...
Başak Şen, Banu Balcı‐Peynircioğlu
wiley   +1 more source

CEBPE Variant as a Cause of Inflammasomopathy

Journal of Human Immunity
Background The CEBPE gene encodes CCAAT enhancer–binding protein epsilon (C/EBPε), which is an important transcription factor in the differentiation of granulocytes. Mutations in the CEBPE gene primarily result in autosomal recessive neutrophil-specific granule deficiency (SGD).
Bryan Witt, Michell Lozano Chinga, Holly Miller   +2 more
openaire   +1 more source

Inflammatory turmoil within: an exploration of autoinflammatory disease genetic underpinnings, clinical presentations, and therapeutic approaches

Advances in Rheumatology
Systemic autoinflammatory diseases (SAIDs) arise from dysregulated innate immune system activity, which leads to systemic inflammation. These disorders, encompassing a diverse array of genetic defects classified as inborn errors of immunity, are ...
Kátia Tomie Kozu, Renan Rodrigues Neves Ribeiro do Nascimento, Patrícia Pontes Aires, Rafael Alves Cordeiro, Thais Costa Lima de Moura, Flavio Roberto Sztajnbok, Ivanio Alves Pereira, Adriana Almeida de Jesus, Sandro Félix Perazzio   +8 more
doaj   +1 more source

Monogenic Inflammasomopathies in Pediatric Patients: Insights from a Rheumatology Unit in Argentina

Journal of Human Immunity
Introduction Monogenic systemic autoinflammatory diseases (SAIDs) are driven by innate immune dysregulation, often due to aberrant inflammasome activation. Inflammasomopathies, those involving NLRP3, MEFV, MVK, and TNFRSF1A mutations, constitute a subgroup marked by sterile inflammation and overlapping symptoms ...
M.M. Katsicas, V. Goris, L. Vasconcellos, E. Puentes, E. Prieto, L. Lancioni, J. Portigliatti, F. Cano, G. Di Giorgio, J. Jancovski, G. Villarreal   +10 more
openaire   +1 more source

Biologics and JAK inhibitors for the treatment of monogenic systemic autoinflammatory diseases in children. [PDF]

J Allergy Clin Immunol, 2023
Du Y, Liu M, Nigrovic PA, Dedeoglu F, Lee PY.   +4 more
europepmc   +1 more source

Systemic autoinflammatory disorders: autoinflammatory and autoimmune disorders. [PDF]

Clin Exp Pediatr, 2023
Kim YD.
europepmc   +1 more source

Maladies auto-inflammatoires monogéniques : une introduction sur un mode translationnel aux inflammasomopathies

, 2022
Autoinflammatory diseases refer to a broad spectrum of diseases that are primarily due to an abnormality in the regulation of natural immunity. Some are polygenic and highly influenced by the environment, others are monogenic. This article is devoted to a family of monogenic autoinflammatory diseases that is very important because it includes the ...
openaire   +1 more source

Autoinflammatory diseases: what is behind them and what is new? [PDF]

Dermatol Reports, 2023
Maalouly M, Saade S, Kurban M.
europepmc   +1 more source