OBSERVATION ONLINE FIRST Cutaneous Manifestations of DOCK8 Deficiency Syndrome Emily Y. Chu, MD, PhD; Alexandra F. Freeman, MD; Huie Jing, PhD; Edward W. Cowen, MD, MHSc; Joie Davis, MSN; Helen C. Su, MD, PhD; Steven M. Holland, MD; Maria L. Chanco Turner, MD Background: Mutations in the dedicator of cytokine- mous cell carcinomas, and diffuse large B-cell lymphoma, sis 8 gene (DOCK8) cause a combined primary immu- developed in 5 patients during adolescence and young nodeficiency syndrome that is characterized by elevated adulthood. serum IgE levels, depressed IgM levels, eosinophilia, sino- pulmonary infections, cutaneous viral infections, and lym- Conclusions: DOCK8 deficiency and Job’s syndrome phopenia. Many patients with DOCK8 deficiency were share several clinical features, including elevated serum previously thought to have a variant of Job’s syndrome. IgE levels, dermatitis, recurrent sinopulmonary infec- Distinguishing between DOCK8 deficiency and Job’s syn- tions, and cutaneous staphylococcal abscesses. How- drome, also referred to as autosomal dominant hyper- ever, the presence of recalcitrant, widespread cutane- IgE syndrome, on the basis of clinical findings alone is ous viral infections, asthma, and food and environmental challenging. The discovery of the DOCK8 mutation has allergies, as well as the absence of newborn rash and coarse made
JAMA Dermatology – American Medical Association
Published: Jan 1, 2012
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