Increased adenosine deaminase activity in a patient with cartilage-hair hypoplasia |
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| Authors: | J Sánchez-Corona D García-Cruz C Medina J M Cantú R Ramos-Zepeda F Rivas |
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| Affiliation: | Divisione de Genética, Instituto Mexicano del Seguro Social, Guadalajara. |
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| Abstract: | A boy aged 9 years presenting short stature and recurrent respiratory-tract infections was studied. The clinical and roentgenological pictures allowed the diagnosis of cartilage-hair hypoplasia (metaphyseal chondrodysplasia, McKusick type). Biochemical studies disclosed a four-fold increase in adenosine deaminase activity, but without evidence of anemia. Immunological evaluation showed abnormal cellular but normal humoral immunity. |
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