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

• 主要な著者: Edna Venegas-Montoya (著者), Aidé Tamara Staines-Boone (著者), Luz María Sánchez-Sánchez (著者), Jorge Alberto García-Campos (著者), Rubén Antonio Córdova-Gurrola (著者), Yuridia Salazar-Galvez (著者), David Múzquiz-Zermeño (著者), María Edith González-Serrano (著者), Saul O. Lugo Reyes (著者)
• フォーマット: 図書
• 出版事項: Frontiers Media S.A., 2021-06-01T00:00:00Z.
• 主題: article
• オンライン･アクセス: 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...