Results 1 to 10 of about 24,442 (134)

Adult patients with autoinflammation of unknown origin partially phenocopy the immune presentation of Still’s disease [PDF]

Nature Communications
Autoinflammation of unknown origin remains amongst the most enigmatic of systemic autoinflammatory disorders (SAID), with systemic autoinflammatory symptoms in the absence of a molecular or clinical diagnosis with a recognized SAID.
Rafael Veiga, Leana De Vuyst, Christophe Poulet, Julika Neumann, Leoni Bücken, Teresa Prezzemolo, Mathijs Willemsen, Steven Vanderschueren, Patrick Matthys, Emna Chabaane, Maximilien Fléron, Gaël Cobraiville, Dominique Baiwir, Gabriel Mazzucchelli, Immunome Project Consortium for Autoinflammatory Disorders (ImmunAID), Bruno Fautrel, Carine Wouters, Dominique De Seny, Stephanie Humblet-Baron, Adrian Liston   +19 more
doaj   +2 more sources

The Interactions Between Autoinflammation and Type 2 Immunity: From Mechanistic Studies to Epidemiologic Associations

Frontiers in Immunology, 2022
Autoinflammatory diseases are a group of clinical syndromes characterized by constitutive overactivation of innate immune pathways. This results in increased production of or responses to monocyte- and neutrophil-derived cytokines such as interleukin-1β (
Daniella M Schwartz, Aran Son, Schwartz Daniella M   +2 more
exaly   +3 more sources

Neuroinflammation, autoinflammation, splenomegaly and anemia caused by bi-allelic mutations in IRAK4

Frontiers in Immunology, 2023
We describe a novel, severe autoinflammatory syndrome characterized by neuroinflammation, systemic autoinflammation, splenomegaly, and anemia (NASA) caused by bi-allelic mutations in IRAK4.
Vanessa Sancho Shimizu, Bellos Evangelos, Mankad Kshitij   +2 more
exaly   +3 more sources

A20/Tumor Necrosis Factor α-Induced Protein 3 in Immune Cells Controls Development of Autoinflammation and Autoimmunity: Lessons from Mouse Models

Frontiers in Immunology, 2018
Immune cell activation is a stringently regulated process, as exaggerated innate and adaptive immune responses can lead to autoinflammatory and autoimmune diseases. Perhaps the best-characterized molecular pathway promoting cell activation is the nuclear
Mirjam Kool, Rudi Hendriks, Zhongli Chen   +2 more
exaly   +3 more sources

SOCS1 deficiency—crossroads of autoimmunity and autoinflammation—two case reports

Frontiers in Pediatrics
Suppressors of cytokine signaling (SOCS) proteins play a critical role in regulating immune signaling pathways. Deficiency of SOCS1 leads to various autoimmune pathologies. We present two unrelated patients with distinct clinical manifestations.
Min Ae Lee-Kirsch, Stephan Ehl, Prasad Thomas Oommen   +2 more
exaly   +3 more sources

Impact of rare and common genetic variation in the interleukin-1 pathway on human cytokine responses

Genome Medicine, 2021
Background The interleukin (IL)-1 pathway is primarily associated with innate immunological defense and plays a major role in the induction and regulation of inflammation.
Rosanne C. van Deuren, Peer Arts, Giulio Cavalli, Martin Jaeger, Marloes Steehouwer, Maartje van de Vorst, Christian Gilissen, Leo A. B. Joosten, Charles A. Dinarello, Musa M. Mhlanga, Vinod Kumar, Mihai G. Netea, Frank L. van de Veerdonk, Alexander Hoischen   +13 more
doaj   +1 more source

Health-related quality of life, continuity of care and patient satisfaction: long-term outcomes of former patients of the Tuebingen Transition Program (TTP) – a retrospective cohort study

Pediatric Rheumatology Online Journal, 2022
Background A significant number of patients in pediatric rheumatology suffer from ongoing disease activity into adulthood and thus need to be transferred into adult care.
Luca Samuel Boeker, Jasmin Beate Kuemmerle-Deschner, Sebastian Jonas Saur, Jens Klotsche, Gabriele Erbis, Sandra Hansmann   +5 more
doaj   +1 more source

Histologic Patterns and Clues to Autoinflammatory Diseases in Children: What a Cutaneous Biopsy Can Tell Us

Dermatopathology, 2021
Autoinflammation is defined by aberrant, antigen-independent activation of the innate immune signaling pathways. This leads to increased, pro-inflammatory cytokine expression and subsequent inflammation.
Athanassios Kolivras, Isabelle Meiers, Ursula Sass, Curtis T. Thompson   +3 more
doaj   +1 more source

TRAP1 chaperone protein mutations and autoinflammation

Life Science Alliance, 2020
This study identifies patients with autoinflammation and mutations affecting the mitochondrial/ER protein chaperone TRAP1, either alone or digenic, with MEFV mutation possibly synergizing to produce severe disease.
Ariane SI Standing, Ying Hong, Coro Paisan-Ruiz, Ebun Omoyinmi, Alan Medlar, Horia Stanescu, Robert Kleta, Dorota Rowcenzio, Philip Hawkins, Helen Lachmann, Michael F McDermott, Despina Eleftheriou, Nigel Klein, Paul A Brogan   +13 more
doaj   +1 more source

The link between rheumatic disorders and inborn errors of immunity

EBioMedicine, 2023
Summary: Inborn errors of immunity (IEIs) are immunological disorders characterized by variable susceptibility to infections, immune dysregulation and/or malignancies, as a consequence of damaging germline variants in single genes.
Georgios Sogkas, Torsten Witte
doaj   +1 more source