Unusual presentation of combined immunodeficiency in a child with homozygous DOCK8 mutation

Autosomal recessive hyper-IgE syndrome with combined immunodeficiency was first described in patients and linked to a mutation in the gene encoding the dedicator of cytokinesis 8 (DOCK8) in 2009.1,2 The DOCK8 gene is located on chromosome 9 and encodes for a protein that functions as a guanine nucleotide exchange factor, which interacts with the Rho family of GTPases.3 The activated Rho-GTPases are vital to cytoskeletal development, cell growth, migration, and adhesion. DOCK8 plays a critical role in immunologic synapse formation, linking the T-cell receptor to the actin cytoskeleton, thereby leading to T-cell activation and proliferation and T-, B-, and natural killer cell survival.

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