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

• Main Authors: Edna Venegas-Montoya (Author), Aidé Tamara Staines-Boone (Author), Luz María Sánchez-Sánchez (Author), Jorge Alberto García-Campos (Author), Rubén Antonio Córdova-Gurrola (Author), Yuridia Salazar-Galvez (Author), David Múzquiz-Zermeño (Author), María Edith González-Serrano (Author), Saul O. Lugo Reyes (Author)
• Format: Book
• Published: Frontiers Media S.A., 2021-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...