Results 131 to 140 of about 148,918 (213)

Genetically programmed alternative splicing of NEMO mediates an autoinflammatory disease phenotype. [PDF]

J Clin Invest, 2022
Lee Y, Wessel AW, Xu J, Reinke JG, Lee E, Kim SM, Hsu AP, Zilberman-Rudenko J, Cao S, Enos C, Brooks SR, Deng Z, Lin B, de Jesus AA, Hupalo DN, Piotto DG, Terreri MT, Dimitriades VR, Dalgard CL, Holland SM, Goldbach-Mansky R, Siegel RM, Hanson EP.   +22 more
europepmc   +1 more source

Autoinflammatory disease and severe neutropenia due to <i>de novo</i> variant of PSTPIP1 with increased binding to pyrin. [PDF]

J Hum Immun
Cook S, Nomula K, Cross CE, Gil HM, Choi JM, Kaviany S, Connelly JA, Chang CC, Markle JG.   +8 more
europepmc   +1 more source

Recessive NLRC4-Autoinflammatory Disease Reveals an Ulcerative Colitis Locus. [PDF]

J Clin Immunol, 2022
Steiner A, Reygaerts T, Pontillo A, Ceccherini I, Moecking J, Moghaddas F, Davidson S, Caroli F, Grossi A, Castro FFM, Kalil J, Gohr FN, Schmidt FI, Bartok E, Zillinger T, Hartmann G, Geyer M, Gattorno M, Mendonça LO, Masters SL.   +19 more
europepmc   +1 more source

Case Report: A case of autoinflammatory disease with a novel <i>NLRP12</i> variant-clinical presentation and successful treatment with baricitinib. [PDF]

Front Med (Lausanne)
Wang W, Li Q, Ma X, Zhou L, Ge D, Fan H, Jiang H, Shi X.   +7 more
europepmc   +1 more source

Clinical perspectives and therapeutic strategies: pediatric autoinflammatory disease-a multi-faceted approach to fever of unknown origin of childhood. [PDF]

Inflamm Regen, 2022
Yachie A.
europepmc   +1 more source

X-linked Multisystem Autoinflammatory Disease With Immune Dysregulation in a Pediatric Patient: A Rare Case and Review of the Literature. [PDF]

Cureus
Laranja S, Piscalho I, Caetano M, Coelho I, Gaspar L, Virtuoso MJ.   +5 more
europepmc   +1 more source

Features predicting colchicine efficacy in treatment of children with undefined systemic autoinflammatory disease: A retrospective cohort study. [PDF]

Eur J Rheumatol, 2022
Marques MC, Egeli BH, Wobma H, Ribeiro C, Anderson E, Hausmann JS, Dedeoğlu F.   +6 more
europepmc   +1 more source

Functional stratification of MEFV variants by flow cytometric assessment of pyrin inflammasome activation

Pediatric Allergy and Immunology, Volume 37, Issue 8, August 2026.
Blandine Monjarret, Isabel Fernandez, Marie‐Paule Morin, Roxane Labrosse, Kathryn Samaan, Julie Barsalou, Karine Leveillé, Cloé Martin, Aymeric Fabié, Guilhem Cros, Elie Haddad, Jean‐Jacques De Bruycker, Fabien Touzot   +12 more
wiley   +1 more source

autoinflammatory disease

Citation: 'autoinflammatory disease' in the IUPAC Compendium of Chemical Terminology, 5th ed.; International Union of Pure and Applied Chemistry; 2025. Online version 5.0.0, 2025. 10.1351/goldbook.12926 • License: The IUPAC Gold Book is licensed under Creative Commons Attribution-ShareAlike CC BY-SA 4.0 International for individual terms ...
openaire   +1 more source

UBA1-depleted neutrophils disrupt immune homeostasis and induce VEXAS-like autoinflammatory disease in mice. [PDF]

J Clin Invest
Dong G, Liu J, Jin W, Zhou H, Wen Y, Wang Z, Xia K, Zhang J, Ma L, Ma Y, Cai LC, Zhou Q, Wang H, Wei W, Fu Y, Cai Z.   +15 more
europepmc   +1 more source