Case Report: DOCK8 Deficiency Without Hyper-IgE in a Child With a Large Deletion

Autosomal recessive (AR) DOCK8 deficiency is a well-known actinopathy, a combined primary immune deficiency with impaired actin polymerization that results in altered cell mobility and immune synapse. DOCK8-deficient patients present early in life with eczema, viral cutaneous infections, chronic muc...

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Detalles Bibliográficos
Autores principales: Venegas-Montoya, Edna, Staines-Boone, Aidé Tamara, Sánchez-Sánchez, Luz María, García-Campos, Jorge Alberto, Córdova-Gurrola, Rubén Antonio, Salazar-Galvez, Yuridia, Múzquiz-Zermeño, David, González-Serrano, María Edith, Lugo Reyes, Saul O.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8236627/
https://www.ncbi.nlm.nih.gov/pubmed/34195158
http://dx.doi.org/10.3389/fped.2021.635322

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8236627/
https://www.ncbi.nlm.nih.gov/pubmed/34195158
http://dx.doi.org/10.3389/fped.2021.635322

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