Case Report: A Novel Synonymous ARPC1B Gene Mutation Causes a Syndrome of Combined Immunodeficiency, Asthma, and Allergy With Significant Intrafamilial Clinical Heterogeneity

Recently, a novel syndrome of combined immune deficiency, infections, allergy, and inflammation has been attributed to mutations in the gene encoding actin-related protein 2/3 complex subunit 1B (ARPC1B), which is a key molecule driving the dynamics of the cytoskeleton. Homozygous mutations in the A...

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Detalles Bibliográficos
Autores principales: Papadatou, Ioanna, Marinakis, Nikolaos, Botsa, Evanthia, Tzanoudaki, Marianna, Kanariou, Maria, Orfanou, Irene, Kanaka-Gantenbein, Christina, Traeger-Synodinos, Joanne, Spoulou, Vana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Immunology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7933039/
https://www.ncbi.nlm.nih.gov/pubmed/33679784
http://dx.doi.org/10.3389/fimmu.2021.634313

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7933039/
https://www.ncbi.nlm.nih.gov/pubmed/33679784
http://dx.doi.org/10.3389/fimmu.2021.634313

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