Assenza di nucleoside fosfondasi purinica e deficit selettivo grave dei linfociti T

Rosa Maria Corbo

Atti della Accademia Nazionale dei Lincei. Classe di Scienze Fisiche, Matematiche e Naturali. Rendiconti (1979)

  • Volume: 66, Issue: 4, page 290-296
  • ISSN: 0392-7881

Abstract

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We studied a 22 months-old girl with severe selective T-cell deficiency and no measurable purine nucleoside phosphorylase activity in the RBC and granulocytes. No inhibitor was found in the patient's erythrocytes. Her parents are second cousins and their red cells exhibited about half the normal level of NP activity. The identification of heterozygotes within a three generation pedigree confirms that PNP deficiency is inherited as a mendelian autosomal trait and that erythrocytes can be used for carrier detection.

How to cite

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Corbo, Rosa Maria. "Assenza di nucleoside fosfondasi purinica e deficit selettivo grave dei linfociti T." Atti della Accademia Nazionale dei Lincei. Classe di Scienze Fisiche, Matematiche e Naturali. Rendiconti 66.4 (1979): 290-296. <http://eudml.org/doc/288722>.

@article{Corbo1979,
author = {Corbo, Rosa Maria},
journal = {Atti della Accademia Nazionale dei Lincei. Classe di Scienze Fisiche, Matematiche e Naturali. Rendiconti},
language = {ita},
month = {4},
number = {4},
pages = {290-296},
publisher = {Accademia Nazionale dei Lincei},
title = {Assenza di nucleoside fosfondasi purinica e deficit selettivo grave dei linfociti T},
url = {http://eudml.org/doc/288722},
volume = {66},
year = {1979},
}

TY - JOUR
AU - Corbo, Rosa Maria
TI - Assenza di nucleoside fosfondasi purinica e deficit selettivo grave dei linfociti T
JO - Atti della Accademia Nazionale dei Lincei. Classe di Scienze Fisiche, Matematiche e Naturali. Rendiconti
DA - 1979/4//
PB - Accademia Nazionale dei Lincei
VL - 66
IS - 4
SP - 290
EP - 296
LA - ita
UR - http://eudml.org/doc/288722
ER -

References

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