title: [The molecular mechanism of autoinflammatory disease--lessons from the function of NOD protein families].
abstract: The latest decade, our understanding of pattern-recognizing receptors involved in innate immune system has been accumulated. One class of the pattern recognizing receptors, the toll-like receptors (TLRs) are well known to detect extracellular pathogens on the cell surface membrane. On the other hand, recently discovered the nucleotide-binding oligomerization domain proteins (NODs) are involved in recognizing intracellular pathogens. Since Nod2, one of the NODs, mutations were found to associate with susceptibility of Crohn's disease, the NODs have been highlighted. For example, cryopyrin mutations have been reported to associate with Familial cold urticaria (FCU)/Familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), Neonatal onset multisystem inflammatory disease (NOMID)/Chronic infantile neurologic cutaneous and articular syndrome (CINCA). Here, we summarize the discovery of the NODs and related molecules, and also discuss the function of the NODs and molecular mechanisms of the autoinflammatory diseases.
authors.affiliation: Department of Pathology, Shinshu University School of Medicine.
authors.forename: Junya
authors.initials: J
authors.lastname: Masumoto
authors.forename: Mizuho
authors.initials: M
authors.lastname: Hasegawa
authors.forename: Naohiro
authors.initials: N
authors.lastname: Inohara
mesh_terms: D053468:CARD Signaling Adaptor Proteins; D003598:Cytoskeletal Proteins / Q000302:isolation & purification; D006801:Humans; D007249:Inflammation / Q000235:genetics*; D053472:Nod Signaling Adaptor Proteins / Q000502:physiology*; D053473:Nod2 Signaling Adaptor Protein / Q000235:genetics; D000071198:Pyrin; D015398:Signal Transduction
chemical_list: D053468:CARD Signaling Adaptor Proteins; D003598:Cytoskeletal Proteins; C429018:NOD2 protein, human; D053472:Nod Signaling Adaptor Proteins; D053473:Nod2 Signaling Adaptor Protein; C402202:PYCARD protein, human; D000071198:Pyrin