Article
Genetic linkage of hyper-IgE syndrome to chromosome 4.
American journal of human genetics - 1 Sept 1999
Grimbacher B, Schäffer A A, Holland S M, Davis J, Gallin J I, Malech H L, Atkinson T P, Belohradsky B H, Buckley R H, Cossu F, Español T, Garty B Z, Matamoros N, Myers L A, Nelson R P, Ochs H D, Renner E D, Wellinghausen N, Puck J M
Abstract excerpt
The hyper-IgE syndrome (HIES) is a rare primary immunodeficiency characterized by recurrent skin abscesses, pneumonia, and highly elevated levels of serum IgE. HIES is now recognized as a multisystem disorder, with nonimmunologic abnormalities of the dentition, bones, and connective tissue. HIES can be transmitted as an autosomal dominant trait with variable expressivity. Nineteen kindreds with multiple cases of...
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