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  DOCK8 Deficiency

 

 

This is disease was previously known as autosomal recessive Hyper IgE syndrome. In addition to severe eczema, staphylococcal skin abscesses and pneumonia, patients develop cutaneous viral infections with HPV, Molluscum contagiosum, HSV, and Varicella zoster. Unlike STAT3 deficiency, patients also have T cell immunodeficiency (T cell lymphopenia and decreased function). Patients do not develop pneumatoceles following pneumonia and are less likely to have the skeletal abnormalities that have been reported in patients with STAT3 deficiency (retained primary teeth, pathologic fractures, hyperextensibility, scoliosis).

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DOCK8 Deficiency