[Purine nucleoside phosphorylase deficiency. Report of two cases].
Two brothers with a PNP deficit are reported. The first case presented recurrent upper respiratory infections and died of a sepsis by pseudomonas. The second one was diagnosed when he was six months old and remains asymptomatic. Immunologic tests revealed a deficit of T cell mediated immunity. Treatment consisted on radiated erythrocytes transfusions because HLA compatible donors were not available.
D000917:Antibody Formation; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007111:Immunity, Cellular; D007223:Infant; D007958:Leukocyte Count; D008297:Male; D010430:Pentosyltransferases / Q000172:deficiency*; D011683:Purine-Nucleoside Phosphorylase / Q000172:deficiency*; D013601:T-Lymphocytes / Q000166:cytology
D010430:Pentosyltransferases; D011683:Purine-Nucleoside Phosphorylase
Déficit de purina nucleósido fosforilasa. Presentación de dos casos.