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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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Principais autores: Edna Venegas-Montoya, Aidé Tamara Staines-Boone, Luz María Sánchez-Sánchez, Jorge Alberto García-Campos, Rubén Antonio Córdova-Gurrola, Yuridia Salazar-Galvez, David Múzquiz-Zermeño, María Edith González-Serrano, Saul O. Lugo Reyes
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2021-06-01
Colecção:Frontiers in Pediatrics
Assuntos:
DOCK8 deficiency
large deletion
Hyper-IgE
case report
combined immune deficiency
literature review
Acesso em linha:https://www.frontiersin.org/articles/10.3389/fped.2021.635322/full
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