DEFICIENT CELL IMMUNITY AND MILD INTERMITTENT HYPERAMINOACIDEMIA IN A PATIENT WITH THE RUBINSTEIN‐TAYBI SYNDROME

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Abstract
Rivas, F., Fragoso, R., Ramos‐Zepeda, R., Vaca, G., Hernandez, A., González‐Quiroga, G., Olivares, Norma and Cantu, J. M. (Divisions of Genetics and Hematology, and Experimental Pathology, Subjefatura de Investigacion Cientifica, Unidad de Investigación Biomédica, Centro Médico de Occidente, Instituto Mexicano del Seguro Social, Guadalajara, Jalisco, México). Deficient cell immunity and mild intermittent hyperaminoacidemia in a patient with the Rubinstein‐Taybi syndrome. Acta Paediatr Scand, 69: 123, 1980.—A boy aged 2 years 8 months presenting the Rubinstein‐Taybi Syndrome (RTS) and a history of recurrent gastrointestinal and respiratory infections was studied. Partial deficient cell immunity and intermittent hyperaminoacidemia and aminoaciduria were ascertained. These findings were interpreted as evidence of phenotypic and probably genetic heterogeneity of RTS

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