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The Extended Clinical Phenotype of 64 Patients with Dedicator of Cytokinesis 8 Deficiency
(Mosby-Elsevier, 2015)
Background: Mutations in dedicator of cytokinesis 8 (DOCK8) cause a combined immunodeficiency (CID) also classified as autosomal recessive (AR) hyper-IgE syndrome (HIES). Recognizing patients with CID/HIES is of clinical ...
Recurrent Viral Infections Associated with a Homozygous Coro1A Mutation That Disrupts Oligomerization and Cytoskeletal Association
(Mosby-Elsevier, 2016)
Background: Coronin-1A (CORO1A) is a regulator of actin dynamics important for T-cell homeostasis. CORO1A deficiency causes T-B+ natural killer-positive severe combined immunodeficiency or T-cell lymphopenia with severe ...