| Property | Value |
|
has major subject area list
|
Calcium-Binding Proteins; CARD Signaling Adaptor Proteins; Inflammasomes; Inflammation; Macrophage Activation Syndrome; Mutation, Missense
|
|
information resource reference
|
Canna SW, de Jesus AA, Gouni S, Brooks SR, Marrero B, Liu Y, DiMattia MA, Zaal KJ, Sanchez GA, Kim H, Chapelle D, Plass N, Huang Y, Villarino AV, Biancotto A, Fleisher TA, Duncan JA, O'Shea JJ, Benseler S, Grom A, Deng Z, Laxer RM, Goldbach-Mansky R. An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome. Nat Genet. 2014 Oct; 46(10):1140-6.
|
|
label
|
An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome.
|