A child with the typical features of congenital dyskeratosis (Zinsser-Engman-Cole syndrome) and aplastic anemia, low serum γ-globulins, thymic dysplasia, lymphocyte-poor spleen and lymph nodes, and absence of primary follicles, is reported. The findings support an immunological defect and suggest that thymic dysplasia may be an integral feature of congenital dyskeratosis.
Ortega JA, Swanson VL, Landing BH, Hammond GD. Congenital Dyskeratosis: Zinsser-Engman-Cole Syndrome With Thymic Dysplasia and Aplastic Anemia. Am J Dis Child. 1972;124(5):701–704. doi:10.1001/archpedi.1972.02110170079012
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