Article
Analphoid marker chromosome in a patient with hyper-IgE syndrome, autism, and mild mental retardation.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2000
Grimbacher B, Dutra A S, Holland S M, Fischer R E, Pao M, Gallin J I, Puck J M
Abstract excerpt
Hyper-IgE syndrome with recurrent infections (HIES) is a primary immunodeficiency disease characterized by recurrent skin and lung abscesses and extreme elevations of serum IgE, but also involving dentition, bones, and connective tissue. Although the etiology of HIES is unknown, autosomal dominant inheritance has been observed in multiple kindreds. A 17 year old male with sporadic HIES, autism, and mild mental...
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