[The enzyme activity of purine nucleotide degradation and lymphoid cell subpopulations in children with the Diamond-Blackfan syndrome].
Blood cells of 13 children with Diamond-Blackfan syndrome and their parents were examined for some immunological characteristics of lymphocytes and the activity of adenosine desaminase (ADA), purine nucleoside phosphorylase (PNP). Acute stage of the disease was characterized by high ADA activity of red blood cells and normal PNP activity in 75% of the patients. In remission these abnormalities persisted. High ADA activity was noted in 6 out of 14 parents of the children. Immunological investigation of the patients' lymphocytes revealed marked shifts in T-cellular immunity which may be responsible for impaired regulation of proliferation and differentiation of erythroid precursors registered in unbalance of purine degradation enzymes activity.
Filanovskaia
L I
LI
Nikitin
D O
DO
Togo
A V
AV
Blinov
M N
MN
Gavrilova
L V
LV
D000243:Adenosine Deaminase / Q000097:blood; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004912:Erythrocytes / Q000201:enzymology; D005199:Fanconi Anemia / Q000201:enzymology* / Q000276:immunology*; D005260:Female; D006801:Humans; D007111:Immunity, Cellular; D007223:Infant; D008297:Male; D011685:Purine Nucleotides / Q000097:blood*; D011683:Purine-Nucleoside Phosphorylase / Q000097:blood; D016176:T-Lymphocyte Subsets / Q000276:immunology*
D011685:Purine Nucleotides; D011683:Purine-Nucleoside Phosphorylase; D000243:Adenosine Deaminase
Aktivnost' fermentov degradatsii purinovykh nukleotidov i subpopuliatsii limfoidnykh kletok u deteĭ s sindromom Daĭemonda--Blekféna.