Functional consequences of NOD2/CARD15 mutations in Crohn disease.
Crohn disease (CD) is a chronic, relapsing inflammatory disorder of the gastrointestinal tract. Its etiology remained obscure until recently, when, through an overwhelming body of research, the main theme of its origin became clear. CD develops in individuals who carry risk alleles for the disease that can cause a loss of physiological tolerance to commensal bacteria. As a consequence, immune responses develop that activate a whole range of immunocompetent cells, resulting in the secretion of proinflammatory mediators that ultimately cause mucosal breaks and the formation of ulceration, edema, and loss of proper function.
Quaglietta
Lucia
L
Department of Pediatrics, University Federico II, Naples, Italy.
te Velde
Anje
A
Staiano
Annamaria
A
Troncone
Riccardo
R
Hommes
Daan W
DW
D015551:Autoimmunity; D003424:Crohn Disease / Q000235:genetics* / Q000276:immunology*; D006801:Humans; D007413:Intestinal Mucosa / Q000276:immunology; D009154:Mutation; D053472:Nod Signaling Adaptor Proteins / Q000276:immunology; D053473:Nod2 Signaling Adaptor Protein / Q000235:genetics*; D011110:Polymorphism, Genetic
C429018:NOD2 protein, human; D053472:Nod Signaling Adaptor Proteins; D053473:Nod2 Signaling Adaptor Protein