Article
Somatic reversion in dedicator of cytokinesis 8 immunodeficiency modulates disease phenotype.
The Journal of allergy and clinical immunology - 1 Jun 2014
Jing Huie, Zhang Qian, Zhang Yu, Hill Brenna J, Dove Christopher G, Gelfand Erwin W, Atkinson T Prescott, Uzel Gulbu, Matthews Helen F, Mustillo Peter J, Lewis David B, Kavadas Fotini D, Hanson I Celine, Kumar Ashish R, Geha Raif S, Douek Daniel C, Holland Steven M, Freeman Alexandra F, Su Helen C
Abstract excerpt
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...
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