Case report: Primary immunodeficiency due to a novel mutation in CARMIL2 and its response to combined immunomodulatory therapy

• Hoofdauteurs: Yu Zhu (Auteur), Lili Ye (Auteur), Hua Huang (Auteur), Xuemei Xu (Auteur), Yu Liu (Auteur), Jian Wang (Auteur), Yanliang Jin (Auteur)
• Formaat: Boek
• Gepubliceerd in: Frontiers Media S.A., 2023-01-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

Capping protein regulator and myosin 1 linker 2 (CARMIL2) is necessary for invadopodia formation, cell polarity, lamellipodial assembly, membrane ruffling, acropinocytosis, and collective cell migration. CARMIL2 deficiency is a rare autosomal recessive disease characterized by dysfunction in naïve...