Results 141 to 150 of about 5,018,411 (238)

New retinal findings in NLRP3-associated autoinflammatory disease. [PDF]

Orphanet J Rare Dis, 2023
Wei Z, Yang Z, Li D, Zhang X, Li B, Zhao X, Yan W, Wu B, Wu N, Wang X, Yu W, Shen M.   +11 more
europepmc   +1 more source

Pitfall of modern genetics: recurrent erysipelas masquerading as autoinflammatory disease

, 2017
A patient presented with recurrent episodes of fever and skin rash for eight years. DNA analysis of the NLRP3 gene revealed a mutation associated with autoinflammatory disease.
Simon, A., Meer, J.W.M. van der, Spierings, E.J.W.   +2 more
core  

Case Report: A de novo NLRP3 variant resulting in autoinflammatory disease in a Chinese newborn. [PDF]

Front Immunol, 2023
Xie M, Wan J, Zheng X, Zou X, Chen W, Zhang K, Yuan H, Zhang Z, Zeng H.   +8 more
europepmc   +1 more source

Dermatologic Findings of RELA-Associated Autoinflammatory Disease. [PDF]

Pediatr Dermatol
Nourse E, Sivaraman V, Chung CG, Akoghlanian S, Faith EF.   +4 more
europepmc   +1 more source

Autoinflammatory disease: clinical perspectives and therapeutic strategies. [PDF]

Inflamm Regen, 2022
Kawakami A, Endo Y, Koga T, Yoshiura KI, Migita K.   +4 more
europepmc   +1 more source

TRIM21 facilitates inflammasome assembly and contributes to autoinflammatory disease. [PDF]

Nat Commun
Carriere J, Yun C, Khare S, Ismaeel S, Jäger E, Dantas Martins V, Sims KA, Chu LH, Nguyen H, de Almeida L, Onyuru J, Ruiz J, Khatri H, Devi S, Chae JJ, Kastner DL, Broderick L, Hoffman HM, Dorfleutner A, Stehlik C.   +19 more
europepmc   +1 more source

Before calling it FMF: MEFV variants of uncertain significance in autoinflammatory disease. [PDF]

Rheumatology (Oxford)
Cam V, Cingoz E, Ercan Emreol H, Unal D, Bayindir Y, Aliyev E, Erkan MO, Banak ON, Dara Kar HD, Basaran O, Bilginer Y, Sag E, Ozen S.   +12 more
europepmc   +1 more source

Correction: Autoinflammatory disease: clinical perspectives and therapeutic strategies. [PDF]

Inflamm Regen, 2022
Kawakami A, Endo Y, Koga T, Yoshiura KI, Migita K.   +4 more
europepmc   +1 more source

A truncating <i>ELF4</i> variant in a pediatric patient with autoinflammatory disease and cell type-specific immune alterations. [PDF]

Front Immunol
Zhang Q, Lei Y, Zhou L, Zhang Z, Tang X, An Y, Zhao X, Du H.   +7 more
europepmc   +1 more source

VEXAS syndrome: an adult-onset monogenic autoinflammatory disease with many unanswered questions. [PDF]

Reumatologia, 2023
Hernández-Rodríguez J, Nieścieruk J, Maślińska M.   +2 more
europepmc   +1 more source