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

• Main Authors: Yu Zhu (Author), Lili Ye (Author), Hua Huang (Author), Xuemei Xu (Author), Yu Liu (Author), Jian Wang (Author), Yanliang Jin (Author)
• Format: Book
• Published: Frontiers Media S.A., 2023-01-01T00:00:00Z.
• Subjects: article
• Online Access: 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...