X-linked multisystem autoinflammatory disease with immune dysregulation (ADMIDX) is a rare inborn disease of hematopoiesis and immunity characterized by severe immune dysregulation and systemic inflammation, recurrent infections, and anemia. X-linked germline mutations in DOCK11 in the patients have been identified. Dedicator of cytokinesis (DOCK) proteins play a central role in actin cytoskeleton regulation. DOCK11 activates CDC42, a Rho-guanosine triphosphate hydrolases involved in actin cytoskeleton dynamics, among many cellular functions.
Boussard C, Delage L, Gajardo T, Kauskot A, Batignes M, Goudin N, Stolzenberg MC, Brunaud C, Panikulam P, Riller Q, Moya-Nilges M, Solarz J, Reperant C, Durel B, Bordet JC, Pelle O, Lebreton C, Magerus A, Pirabakaran V, Vargas P, Dupichaud S, Jeanpierre M, Vinit A, Zarhrate M, Masson C, Aladjidi N, Arkwright PD, Bader-Meunier B, Baron Joly S, Benadiba J, Bernard E, Berrebi D, Bodemer C, Castelle M, Charbit-Henrion F, Chbihi M, Debray A, Drabent P, Fraitag S, Hie M, Landman-Parker J, Lhermitte L, Moshous D, Rohrlich P, Ruemmele F, Welfringer-Morin A, Tusseau M, Belot A, Cerf-Bensussan N, Roelens M, Picard C, Neven B, Fischer A, Callebaut I, Menager M, Sepulveda FE, Adam F, Rieux-Laucat F
タイトル
DOCK11 deficiency in patients with X-linked actinopathy and autoimmunity.
