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

Internet

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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