Human DOCK2 Deficiency: Report of a Novel Mutation and Evidence for Neutrophil Dysfunction

DOCK2 is a guanine-nucleotide-exchange factor for Rac proteins. Activated Rac serves various cellular functions including the reorganization of the actin cytoskeleton in lymphocytes and neutrophils and production of reactive oxygen species in neutrophils. Since 2015, six unrelated patients with comb...

Descripción completa

Detalles Bibliográficos
Autores principales: Moens, Leen, Gouwy, Mieke, Bosch, Barbara, Pastukhov, Oleksandr, Nieto-Patlàn, Alejandro, Siler, Ulrich, Bucciol, Giorgia, Mekahli, Djalila, Vermeulen, François, Desmet, Lars, Maebe, Sophie, Flipts, Helena, Corveleyn, Anniek, Moshous, Despina, Philippet, Pierre, Tangye, Stuart G., Boisson, Bertrand, Casanova, Jean-Laurent, Florkin, Benoit, Struyf, Sofie, Reichenbach, Janine, Bustamante, Jacinta, Notarangelo, Luigi D., Meyts, Isabelle
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2019
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6647034/
https://www.ncbi.nlm.nih.gov/pubmed/30838481
http://dx.doi.org/10.1007/s10875-019-00603-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6647034/
https://www.ncbi.nlm.nih.gov/pubmed/30838481
http://dx.doi.org/10.1007/s10875-019-00603-w

Ejemplares similares