Increased adenosine deaminase activity in a patient with cartilage-hair hypoplasia.
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.
Sánchez-Corona
J
J
Divisione de Genética, Instituto Mexicano del Seguro Social, Guadalajara.
García-Cruz
D
D
Medina
C
C
Cantú
J M
JM
Ramos-Zepeda
R
R
Rivas
F
F
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
D000243:Adenosine Deaminase