WebbTo our knowledge, this is the first case showing that somatic mutation of NLRC4 causes autoinflammatory symptoms compatible with NOMID. The present study demonstrates …
NLRC4 inflammasomopathies - Physician
WebbThe NLRC4 protein is highly conserved across mammalian species. It bears homology to the C. elegans Ced4 protein. It contains an N-terminal CARD domain, a central … WebbNM_001199138.2(NLRC4):c.772T>C (p.Cys258Arg) AND multiple conditions Clinical significance: Uncertain significance (Last evaluated: Aug 15, 2024) Review status: 1 star out of maximum of 4 stars editing shockwave flash objects
韩家淮课题组揭示NLRC4炎症小体过度激活可通过三种细胞死亡通 …
Webb1 apr. 2024 · Finally, NLRC4 somatic mosaicism has now been identified in a NOMID and an AIFEC patient, a finding emphasizing nontraditional modes of inheritance in … WebbThe NLRC4 inflammasomopathies constitute a growing autoinflammatory disease category that spans a broad clinical spectrum from cold urticaria to NOMID and the … Webb16 apr. 2024 · Results We identified a somatic mutation in NLRC4 (p.His443Gln) with the highest mosaicism ratio in the patient’s monocytes (5.69%). The somatic mutation … conservatory 4 you ltd