Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.5.1.4 (deaminase)
 5,113 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A two months old girl whose parents and grand-parents were consanguineous, and a former brother died when eight months old with a similar clinical picture is studied. Our patient developed diarrhea at the age of fifteen days, and icthyosiform skin lesions when she was one month old. Enlarged lymph nodes were prominent. She died with severe lung and ear infection. No evidence of skeletal abnormalities were found. Eosinophil count was high (720-1,000/mm3), IgE was increased for age (760 u.u./ml.), but other immunoglobulins were very decreased or absent. T-cells were decreased and lymphocyte with Ig receptors were not detected. Phytohemagglutinin response was nul but complement was normal. Autopsy revealed typical lymphoid features of severe combined immunodeficiency. Pulmonary "Pneumocystis carinii" infection was not found. Seric adenosine-deaminase was normal and absence of hypouricemia suggested also a normal nucleoside-phosphorilase.
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PMID:[Severe combined immunodeficiency with hypergamma-e eosinophilia, icthyosis and normal serum adenosin-deaminase (author's transl)]. 90 36