Cargando…
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...
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: | |
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 |
Ejemplares similares
-
Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined Immunodeficiency
por: Alazami, Anas M., et al.
Publicado: (2018) -
A human immunodeficiency syndrome caused by mutations in CARMIL2
por: Schober, T., et al.
Publicado: (2017) -
Complex Muco-cutaneous Manifestations of CARMIL2-associated Combined Immunodeficiency: A Novel Presentation of Dysfunctional Epithelial Barriers
por: MARANGI, Giuseppe, et al.
Publicado: (2020) -
A Novel Pathogenic Variant in CARMIL2 (RLTPR) Causing CARMIL2 Deficiency and EBV-Associated Smooth Muscle Tumors
por: Yonkof, Jennifer R., et al.
Publicado: (2020) -
Dual regulation of the actin cytoskeleton by CARMIL-GAP
por: Jung, Goeh, et al.
Publicado: (2022)