title: The cytosolic pattern-recognition receptor Nod2 and inflammatory granulomatous disorders.
abstract: Pattern-recognition receptors are a first line of defense against invading pathogens. Recent advances in the understanding of innate immunity have revealed a novel family of cytosolic pattern-recognition receptors called Nods, which contain an amino-terminal effector-binding domain, a centrally located nucleotide-binding oligomerization domain (NOD) and a carboxy-terminal ligand recognition domain. Hereditary mutations of Nods have been reported in patients with certain inflammatory diseases; for example, Nod2 mutations are associated with the inflammatory granulomatous disorders, Crohn's disease and Blau syndrome. Missense mutations of Nod2 are also associated with early-onset sarcoidosis, a rare but sporadic disease. Because Nod2 is predominantly expressed in monocytes and recognizes a component of bacterial peptidoglycan, analysis of its function may help in understanding the role of the immune system in granuloma formation.
authors.affiliation: Department of Dermatology, Kyoto University, Graduate School of Medicine, Shogoin, Sakyo-ku, Japan. nkambe@kuhp.kyoto-u.ac.jp
authors.forename: Naotomo
authors.initials: N
authors.lastname: Kambe
authors.forename: Ryuta
authors.initials: R
authors.lastname: Nishikomori
authors.forename: Nobuo
authors.initials: N
authors.lastname: Kanazawa
mesh_terms: D001168:Arthritis / Q000378:metabolism*; D002473:Cell Wall / Q000378:metabolism; D003424:Crohn Disease / Q000378:metabolism*; D003600:Cytosol / Q000378:metabolism*; D030342:Genetic Diseases, Inborn / Q000378:metabolism; D006099:Granuloma / Q000378:metabolism; D006801:Humans; D007107:Immune System; D007249:Inflammation / Q000378:metabolism*; D047908:Intracellular Signaling Peptides and Proteins / Q000502:physiology*; D008954:Models, Biological; D009000:Monocytes / Q000378:metabolism; D009154:Mutation; D020125:Mutation, Missense; D053473:Nod2 Signaling Adaptor Protein; D010457:Peptidoglycan / Q000737:chemistry; D017434:Protein Structure, Tertiary; D012507:Sarcoidosis / Q000378:metabolism; D012867:Skin / Q000473:pathology; D013577:Syndrome; D014605:Uveitis / Q000378:metabolism*
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein; D010457:Peptidoglycan