Severe combined immunodeficiency disease with adenosine deaminase deficiency.
Severe combined immunodeficiency disease with adenosine deaminase deficiency was reported of a 1-year-2-month-old boy, who showed clinical picture of pulmonary candidiasis. The serum immunoglobulin level and absolute lymphocyte count were markedly diminished. But immunological study revealed both T- and B-cell surface markers on the peripheral lymphocytes, in spite of complete deficiency of both systems.
D000243:Adenosine Deaminase / Q000172:deficiency*; D006801:Humans; D007136:Immunoglobulins / Q000032:analysis; D007153:Immunologic Deficiency Syndromes / Q000150:complications* / Q000201:enzymology / Q000276:immunology; D007223:Infant; D007958:Leukocyte Count; D008214:Lymphocytes; D008297:Male; D009700:Nucleoside Deaminases / Q000172:deficiency*
D007136:Immunoglobulins; D009700:Nucleoside Deaminases; D000243:Adenosine Deaminase