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Increased adenosine deaminase activity in a patient with cartilage-hair hypoplasia
J Sánchez-Corona1, D García-Cruz, C Medina
1Divisione de Genética, Instituto Mexicano del Seguro Social, Guadalajara.
Annales De Genetique
|January 1, 1990
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.