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

Corbo, Rosa Maria

Atti della Accademia Nazionale dei Lincei. Classe di Scienze Fisiche, Matematiche e Naturali. Rendiconti, Tome 66 (1979), p. 290-296 / Harvested from Biblioteca Digitale Italiana di Matematica

Résumé

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.

Détail

Publié le : 1979-04-01

Bibliographie

[1] George, D.L. e Francke, U. (1976) - Gene dose effect: regional mapping of human nucleoside phosphorylase on chromosome 14, «Science», 194, 851-852.

[2] Edwards, Y.H., Hopkinson, D.A. e Harris, H. (1971) - Inherited variants of human nucleoside phosphorylase, «Ann. Hum. Genet. Lond.», 34, 395-408.

[3] Giblett, E.R., Amman, A.J., Wara, D.W., Sandman, R. e Diamond, L.K. (1975) - Nucleoside-phosphorylase deficiency in a child with severely defective T-cell immunity and normal B-cell immunity, «The Lancet», 1, 1010-1013.

[4] Stoop, J.W., Zegers, B.J.M., Hendrickx, G.F.M., Siegenbeek Van Heukelom, L.H., Staal, G.E.J., De Bree, P.K., Wadman, S.K. e Ballieux, R.E. (1977) - Purine nucleoside phosphorylase deficiency associated with selective cellular immunodeficiency, «The New England Journal of Medicine», 296, 651-655.

[5] Hamet, M., Griscelli, C. e Cartier, P. (1977) - A second case of inosine phosphorylase deficiency with severe T-cell abnormalities, «Adv. Exp. Med. Biol.», 76 A , 477.

[6] Rich, K., Arnold, W., Fox, I. e Palella, T. (1978) - Purine nucleoside phosphorylase (PNP) deficiency with cellular immuno deficiency, «Pediatric Research», 12, 485.

[7] Fox, I.H., Andres, C.M., Gelfand, E.W. e Biggar, D. (1977) - Purine nucleoside phosphorylase deficiency: altered kinetic properties of a mutant enzyme, «Science», 197, 1084-1086.

[8] Carapella-De Luca, E., Aiuti, F., Lucarelli, P., Bruni, L., Baroni, C.D., Imperato, C., Roos, D. e Astaldi, A. (1978) - A patient with nucleoside phosphorylase deficiency, selective T-cell deficiency and auto-immune haemolytic anaemia, «The Journal of Pediatrics», 93, 1000-1003.

[9] Lucarelli, P., Corbo, R.M., Scacchi, R., Palmarino, R. e Carapella-De Luca, E. (1979) - Another family with purine nucleoside phosphorylase deficiency. «Human Genetics», in corso di stampa.

[10] Hopkinson, D.A., Cook, P.J.L. e Harris, H. (1969) - Further data on the adenosine deaminase (ADA) polymorphism and a report of a new phenotype, «Ann. Hum. Genet. Lond.», 32, 361-367.

[11] Battistuzzi, G., Scozzari, R., Santolamazza, P., Terrenato, L. e Modiano, G. (1974) - Comparative activity of red cell adenosine deaminase allelic forms, «Nature», 231, 711-713.

[12] Spencer, N., Hopkinson, D.A. e Harris, H. (1968) - Adenosine deaminase polymorphism in man, «Ann. Hum. Genet. Lond.», 32, 9-14.

[13] Dacie, J.E. (1958) - Basic haematological techniques. I: the cyanmethaemoglobin method, in «Practical haematology», seconda edizione, J. e A. Churchill Ltd., p. 31.

[14] Murphy, J.R. (1973) - Influence of temperature and method of centrifugation on the separation of erythrocytes. «J. Lab. Clin. Med.», 82, 334-341.

[15] Osborne, W.R.A., Chen, S., Giblett, E.R., Biggar, W.D., Amman, A.A. e Scott, C.R. (1977) - Purine nucleoside phosphorylase deficiency. Evidence for molecolar heterogeneity in two families with enzyme-deficient members, «J. Clin. Invest.», 60, 741-746.

[16] Polmar, S.H. (1977) - Lymphocyte enzyme deficiencies and the metabolic basis of immunodeficiency disease, «Clinics in Haematology», 6, 423-438.