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

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 T...

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Detalles Bibliográficos
Autores principales:	Zhu, Yu, Ye, Lili, Huang, Hua, Xu, Xuemei, Liu, Yu, Wang, Jian, Jin, Yanliang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Pediatrics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9884805/ https://www.ncbi.nlm.nih.gov/pubmed/36727012 http://dx.doi.org/10.3389/fped.2022.1042302

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