A case of dyskeratosis congenita with highly elevated serum IgE

Abstract

We experienced a case of dyskeratosis congenita with typical triad which consists of generalized reticular pigmentation, leukoplakia of the tongue and deformed nails. His immunological status seemed to be somewhat depressed, because he developed frequent upper and lower respiratory infections including tuberculosis. Laboratory studies revealed pancytopenia that was also typical for the syndrome. Delayed-type skin reactions to various antigens were diminished. In addition, serum IgE was highly elevated, and serum immunoglobulins (IgG, IgA, IgM) were also increased polyclonally. Flow cytometric analysis showed decreased number of T cells and strong CD 23 expression on B cells.
His elevated serum IgE can be explained by the presence of atopic predisposition. However, several immunodeficiency syndromes are known to develop elevated IgE value and dyskeratosis congenita is recently considered to be one of immunodeficiency syndromes. Some cases of this disorder may develop high serum IgE level and this can be due to deficient immune regulation. Measurement of serum IgE seemed to be useful in elucidating pathophysiolgy of this syndrome.