[Severe combined immunodeficiency with adenosine deaminase deficiency (author's transl)].
Authors present clinical data of two sisters with a very similar clinical disease, one of which was diagnosed as CSID with ADA deficiency. The different manifestations of the disease are reviewed and the importance of establishing an early diagnosis is underlined, not only for early treatment of the patient, but for genetic counselling as well.
D000243:Adenosine Deaminase / Q000172:deficiency* / Q000235:genetics; D004198:Disease Susceptibility; D005260:Female; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications / Q000201:enzymology* / Q000235:genetics; D007223:Infant; D007239:Infections / Q000209:etiology; D009700:Nucleoside Deaminases / Q000172:deficiency*
D009700:Nucleoside Deaminases; D000243:Adenosine Deaminase
Immunodeficiencia severa combinada con déficit de adenosín desaminasa.