NLRP3 mutation

Under hypoxic conditions, HIF-1α enhances mitochondrial dysfunction via Drp1-dependent mitochondrial fission and influences the metabolic profile by altering glycolysis to increase mtROS production, which can trigger NLRP3 inflammasome activation and mucosal microenvironment alterations to contribute to the development of benign and malignant gastric mucosal lesions.

The NLRP3 inflammasome plays a pivotal role in TME which could serve as a higher predictive value biomarker and therapeutic target for glioma treatment.

This study showed a statistically significant correlation between H. influenzae and the reduced incidence of CRC. This reduction in CRC in patients with a history of H. influenzae infection suggests a potential link to the NLRP3 inflammasome, which should be further studied.

We describe a Puerto Rican family of three with Cryopyrin-associated Periodic Syndrome and varying degrees of severity that received Canakinumab...Many develop mental or cognitive impairment. Auditory Mild hearing loss Sensorineural hearing loss starting in adolescence Sensorineural hearing loss from infancy/childhood Ophthalmic Conjunctivitis during flares Conjunctivitis during flares Papilledema, uveitis, iritis, conjunctivitis, and vision loss Lymphatic Not noted May be noted May have enlarged lymph nodes Joints Arthralgia Arthralgia, stiffness, and swelling during flares Arthralgia, stiffness, and swelling during flares Laboratory values High ESR, CRP, SAA, and leukocytosis with flares High ESR, CRP, SAA, and leukocytosis with flares Chronically elevated ESR, CRP, SAA, and leukocytosis FCAS, Familial cold autoinflammatory syndrome; MWS Muckle Wells Syndrome; CINCA/NOMID, chronic infantile neurologic, cutaneous, and articular syndrome/neonatal-onset multisystem inflammatory disease.

In addition, NLRP3 mutation-sensitive drugs (VNLG/124, sunitinib, linifanib) may have better clinical benefits in the high-risk group. All in all, the crLncRNAs model has excellent specificity and sensitivity, which can be used for classifying the therapy-sensitive population and predicting the prognosis of HCC patients.

Both MyD88 and NOD2 are known to play important roles in innate immune response, and they may be cooperative in certain autoinflammatory diseases. Molecular analysis of NOD2 mutations may be incorporated into genetic testing for patients with suspected SchS or SchS/WM.

NLRP3 mutations were identified to associate with the elevated mutational burden, favorable immune infiltration, and preferable ICI efficacy. Findings derived from our study suggest that NLRP3 mutations may serve as a potential biomarker for evaluating melanoma immunotherapy response.