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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 importance because of the difference in prognosis and management.We sought to define the clinical features that distinguish DOCK8 deficiency from other forms of HIES and CIDs, study the mutational...
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