Somatic reversion in dedicator of cytokinesis 8 immunodeficiency modulates disease phenotype
Background Autosomal recessive loss-of-function mutations in dedicator of cytokinesis 8
(DOCK8) cause a combined immunodeficiency characterized by atopy, recurrent infections,
and cancer susceptibility. A genotype-phenotype explanation for the variable disease
expression is lacking. Objective We investigated whether reversions contributed to the
variable disease expression. Methods Patients followed at the National Institutes of Health's
Clinical Center were studied. We performed detailed genetic analyses and intracellular flow …
(DOCK8) cause a combined immunodeficiency characterized by atopy, recurrent infections,
and cancer susceptibility. A genotype-phenotype explanation for the variable disease
expression is lacking. Objective We investigated whether reversions contributed to the
variable disease expression. Methods Patients followed at the National Institutes of Health's
Clinical Center were studied. We performed detailed genetic analyses and intracellular flow …
