Results 121 to 130 of about 147,251 (203)

Adult-Diagnosed NLRP3-Associated Autoinflammatory Disease Presenting With Blurry Vision and Elevated Serum Amyloid A. [PDF]

ACR Open Rheumatol
Kalemoglu E, Pathak D, Marian V.
europepmc   +1 more source

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

To the Editor, "CEBPE-Related Immunodeficiency Mimicking Acute Myeloid Leukemia: A Diagnostic Pitfall in Pediatric Autoinflammatory Disease". [PDF]

J Clin Immunol
Dwivedi P, Deshpande K, Dhabale T, Kapse A, Pathak A.   +4 more
europepmc   +1 more source

Behçet's Syndrome in a Chinese Pedigree of NLRP3-Associated Autoinflammatory Disease: A Coexistence or Novel Presentation? [PDF]

Front Med (Lausanne), 2021
Liu J, Yu X, Li C, Wang Y, Yu W, Shen M, Zheng W.   +6 more
europepmc   +1 more source