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.
MeSH terms
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Abnormalities, Multiple / enzymology
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Abnormalities, Multiple / genetics*
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Adenosine Deaminase / blood
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Adenosine Deaminase / genetics*
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Cartilage Diseases / enzymology
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Cartilage Diseases / genetics*
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Child
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Consanguinity
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Dwarfism / enzymology
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Dwarfism / genetics
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Hair Diseases / enzymology
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Hair Diseases / genetics*
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Humans
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Immunity, Cellular
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Immunologic Deficiency Syndromes / enzymology
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Immunologic Deficiency Syndromes / genetics*
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Male
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Pedigree