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Mutation Identified as Underlying Cause of Combined Immunodeficiency

from Medscape Medical News

Researchers at the National Institute of Allergy and Infectious Disease and the National Cancer Institute, National Institutes of Health, Bethesda, Maryland, have discovered an association between a deficiency in DOCK8 — a gene coding for the "dedicator of cytokinesis 8" protein — and a variant of combined immunodeficiency. DOCK8 is expressed in lymphocytes, but its function is unknown. However, the DOCK8 protein resembles molecules that regulate rearrangements of the cytoskeleton affecting cell structure, adhesion, and migration. more

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