Results 1 to 10 of about 27,174 (202)

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

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.
Fiona Price-Kuehne
exaly   +7 more sources

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

Nat Commun
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.
Veiga R, De Vuyst L, Poulet C, Neumann J, Bücken L, Prezzemolo T, Willemsen M, Vanderschueren S, Matthys P, Chabaane E, Fléron M, Cobraiville G, Baiwir D, Mazzucchelli G, Immunome Project Consortium for Autoinflammatory Disorders (ImmunAID), Fautrel B, Wouters C, De Seny D, Humblet-Baron S, Liston A.   +19 more
europepmc   +3 more sources

TRAP1 chaperone protein mutations and autoinflammation [PDF]

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   +3 more sources

Mechanisms outpacing medicine in autoinflammatory diseases. [PDF]

Front Immunol
Autoinflammatory diseases are increasingly defined at the genetic and pathway levels, yet therapeutic predictability has not advanced in parallel. This disconnect is especially evident in monogenic disorders, in which molecular diagnosis can identify the
Chen R.
europepmc   +2 more sources

DNAJC17 deficiency: A novel inborn error of immunity with TNF-driven autoinflammation. [PDF]

Front Immunol
BackgroundInborn Errors of Immunity (IEI) encompass a broad spectrum of monogenic disorders with variable clinical presentations, including recurrent infections, autoimmunity, and systemic inflammation.
Alroqi F, Almojali A, AlJaber AN, Althubaiti N, Alzaaqi S, Almohammadi A, Albahkali S, Majeed MA, Al Tuwaijri A, Basmaeil Y, Almutairi A, Alrasheed A.   +11 more
europepmc   +2 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, Maximilian Seidl, Florianj Babor   +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

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