Genetic variations in NLRP3 and NLRP12 genes in adult-onset patients with autoinflammatory diseases: a comparative study
M Yun, Z Deng, B Navetta-Modrov, B Xin… - Frontiers in …, 2024 - frontiersin.org
Objectives Cryopyrin-associated periodic syndrome or NLRP3-associated autoinflammatory
disease (NLRP3-AID) and NLRP12-AID are both Mendelian disorders with autosomal …
disease (NLRP3-AID) and NLRP12-AID are both Mendelian disorders with autosomal …
TNFRSF11A variants contribute to systemic autoinflammatory diseases: A case series of 12 patients
V Papatheodorou, C Gerodimos… - Seminars in Arthritis and …, 2024 - Elsevier
Background Limited evidence suggests that variants in TNFRSF11A gene, encoding RANK,
may contribute to systemic autoinflammatory disease (SAID). Aim/Methods To estimate the …
may contribute to systemic autoinflammatory disease (SAID). Aim/Methods To estimate the …
OP0243 EFFICACY AND SAFETY OF TARGETED THERAPIES IN VEXAS SYNDROME: RETROSPECTIVE STUDY FROM THE FRENVEX
J Hadjadj, Y Nguyen, D Mouloudj, R Bourguiba… - 2024 - ard.bmj.com
Background: VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome
is an autoinflammatory disease of adults associated with somatic mutations in the UBA1 …
is an autoinflammatory disease of adults associated with somatic mutations in the UBA1 …
OP0262 BIOINFORMATICS-DRIVEN ANALYSIS OF GERMLINE MUTATIONS AND THEIR IMPACT IN ADULTS WITH AUTOINFLAMMATORY DISEASES
Q Yao, S Wu, Z Deng, A Uddin, I Aksentijevich - 2024 - ard.bmj.com
Background: Systemic autoinflammatory diseases (SAIDs) are characterized by recurrent
episodes of inflammation and abnormal innate immune response. Genetic mutations play a …
episodes of inflammation and abnormal innate immune response. Genetic mutations play a …
[引用][C] Yao Syndrome in a Child with C2 Deficiency
S Cresoe-Ortiz, G Hall, RL Randell… - The Journal of Allergy …, 2024 - Elsevier
Conflict of Interest Disclosures: The authors declare that there are no conflicts of interest 38
regarding the publication of this paper, financial or otherwise. 39 RLR reports financial …
regarding the publication of this paper, financial or otherwise. 39 RLR reports financial …