title: Increased adenosine deaminase activity in a patient with cartilage-hair hypoplasia.
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.
authors.affiliation: Divisione de Genética, Instituto Mexicano del Seguro Social, Guadalajara.
authors.forename: J
authors.initials: J
authors.lastname: Sánchez-Corona
authors.forename: D
authors.initials: D
authors.lastname: García-Cruz
authors.forename: C
authors.initials: C
authors.lastname: Medina
authors.forename: J M
authors.initials: JM
authors.lastname: Cantú
authors.forename: R
authors.initials: R
authors.lastname: Ramos-Zepeda
authors.forename: F
authors.initials: F
authors.lastname: Rivas
mesh_terms: D000015:Abnormalities, Multiple / Q000201:enzymology / Q000235:genetics*; D000243:Adenosine Deaminase / Q000097:blood / Q000235:genetics*; D002357:Cartilage Diseases / Q000201:enzymology / Q000235:genetics*; D002648:Child; D003241:Consanguinity; D004392:Dwarfism / Q000201:enzymology / Q000235:genetics; D006201:Hair Diseases / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D007111:Immunity, Cellular; D007153:Immunologic Deficiency Syndromes / Q000201:enzymology / Q000235:genetics*; D008297:Male; D010375:Pedigree
chemical_list: D000243:Adenosine Deaminase