-
1
-
-
0024997299
-
Paradoxical expression of adenosine deaminase in T-cells cultured from a patient with adenosine deaminase deficiency and combined immunodeficiency
-
Arredondo-Vega, F. X., J. Kurtzberg, S. Chaffee, I. Santisteban, E. Reisner, M. S. Povey, and M. S. Hershfield. 1990. Paradoxical expression of adenosine deaminase in T-cells cultured from a patient with adenosine deaminase deficiency and combined immunodeficiency. J. Clin. Invest. 86:444-452.
-
(1990)
J. Clin. Invest.
, vol.86
, pp. 444-452
-
-
Arredondo-Vega, F.X.1
Kurtzberg, J.2
Chaffee, S.3
Santisteban, I.4
Reisner, E.5
Povey, M.S.6
Hershfield, M.S.7
-
2
-
-
0030862399
-
Human severe combined immunodeficiency: Genetic, phenotypic, and functional diversity in one hundred eight infants
-
Buckley, R. H., R. I. Schiff, S. E. Schiff, L. Markert, L. W. Williams, T. O. Harville, J. L. Roberts, and J. M. Puck. 1947. Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants. J. Pediatr. 130:378-387.
-
(1947)
J. Pediatr.
, vol.130
, pp. 378-387
-
-
Buckley, R.H.1
Schiff, R.I.2
Schiff, S.E.3
Markert, L.4
Williams, L.W.5
Harville, T.O.6
Roberts, J.L.7
Puck, J.M.8
-
3
-
-
0018085332
-
A patient with nucleoside phosphorylase deficiency, selective T cell deficiency, and autoimmune hemolytic anemia
-
Carapella-de Luca, E., F. Aiuti, P. Lucarelli, L. Bruni, C. D. Baroni, C. Imperato, D. Roos, and A. Astaldi. 1978. A patient with nucleoside phosphorylase deficiency, selective T cell deficiency, and autoimmune hemolytic anemia. J. Pediatr. 93:1000-1003.
-
(1978)
J. Pediatr.
, vol.93
, pp. 1000-1003
-
-
Carapella-de Luca, E.1
Aiuti, F.2
Lucarelli, P.3
Bruni, L.4
Baroni, C.D.5
Imperato, C.6
Roos, D.7
Astaldi, A.8
-
4
-
-
0018748542
-
Adenosine deaminase and nucleoside phosphorylase activity in patients with immunodeficiency syndromes
-
Chen, S. H., H. D. Ochs, C. R. Scott, and E. R. Giblett. 1979. Adenosine deaminase and nucleoside phosphorylase activity in patients with immunodeficiency syndromes. Clin. Immunol. Immunopathol. 13:156-160.
-
(1979)
Clin. Immunol. Immunopathol.
, vol.13
, pp. 156-160
-
-
Chen, S.H.1
Ochs, H.D.2
Scott, C.R.3
Giblett, E.R.4
-
5
-
-
0024538472
-
Clinical and immunologic analyses of 103 patients with common variable immunodeficiency
-
Cunningham-Rundles, C. 1989. Clinical and immunologic analyses of 103 patients with common variable immunodeficiency. J. Clin. Immunol. 9:22-33.
-
(1989)
J. Clin. Immunol.
, vol.9
, pp. 22-33
-
-
Cunningham-Rundles, C.1
-
6
-
-
0027538145
-
Primary hypogammaglobulinemia: A survey of clinical manifestations and complications
-
Hermaszewski, R. A., and A. D. Webster. 1993. Primary hypogammaglobulinemia: a survey of clinical manifestations and complications. Q. J. Med. 86: 31-42.
-
(1993)
Q. J. Med.
, vol.86
, pp. 31-42
-
-
Hermaszewski, R.A.1
Webster, A.D.2
-
7
-
-
0002377290
-
Immunodeficiency diseases caused by adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency
-
C. R. Scriver, A. L. Beaudet, M. S. Sly, and D. S. Valle (ed.), McGraw-Hill, New York, N.Y.
-
Hershfield, M. S., and B. S. Mitchell. 1995. Immunodeficiency diseases caused by adenosine deaminase deficiency and purine nucleoside phosphorylase deficiency, p. 1725-1768. In C. R. Scriver, A. L. Beaudet, M. S. Sly, and D. S. Valle (ed.), The metabolic and molecular basis of inherited disease. McGraw-Hill, New York, N.Y.
-
(1995)
The Metabolic and Molecular Basis of Inherited Disease
, pp. 1725-1768
-
-
Hershfield, M.S.1
Mitchell, B.S.2
-
8
-
-
0023813205
-
Adenosine deaminase deficiency with late onset of recurrent infections: Response to treatment with polyethylene glycol-modified adenosine deaminase
-
Levy, Y., M. Hershfield, C. Fernandez, S. Polmar, D. Scudiery, M. Berger, and R. Sorensen. 1988. Adenosine deaminase deficiency with late onset of recurrent infections: response to treatment with polyethylene glycol-modified adenosine deaminase. J. Pediatr. 113:312-371.
-
(1988)
J. Pediatr.
, vol.113
, pp. 312-371
-
-
Levy, Y.1
Hershfield, M.2
Fernandez, C.3
Polmar, S.4
Scudiery, D.5
Berger, M.6
Sorensen, R.7
-
9
-
-
0025785602
-
Purine nucleoside phosphorylase deficiency
-
Markert, M. L. 1991. Purine nucleoside phosphorylase deficiency. Immunodefic. Rev. 3:45-81.
-
(1991)
Immunodefic. Rev.
, vol.3
, pp. 45-81
-
-
Markert, M.L.1
-
10
-
-
0023406827
-
Adenosine deaminase and purine nucleoside phosphorylase deficiencies: Evaluation of therapeutic interventions in eight patients
-
Markert, M. L., M. S. Hershfield, R. I. Schiff, and R. H. Buckley. 1987. Adenosine deaminase and purine nucleoside phosphorylase deficiencies: evaluation of therapeutic interventions in eight patients. J. Clin. Immunol. 7: 389-399.
-
(1987)
J. Clin. Immunol.
, vol.7
, pp. 389-399
-
-
Markert, M.L.1
Hershfield, M.S.2
Schiff, R.I.3
Buckley, R.H.4
-
11
-
-
0021811763
-
An erythrocyte Pr auto-antibody with sialoglycoprotein specificity in a patient with purine nucleoside phosphorylase deficiency
-
McGinniss, M. H., A. Wasniowski, D. A. Zopf, S. E. Straus, and C. M. Reichert. 1985. An erythrocyte Pr auto-antibody with sialoglycoprotein specificity in a patient with purine nucleoside phosphorylase deficiency. Transfusion 25:131-136.
-
(1985)
Transfusion
, vol.25
, pp. 131-136
-
-
McGinniss, M.H.1
Wasniowski, A.2
Zopf, D.A.3
Straus, S.E.4
Reichert, C.M.5
-
12
-
-
0030940074
-
Adenosine deaminase deficiency in adults
-
Ozsahin, H., F. X. Arredondo, I. Santisteban, H. Fhurer, P. Tuchschmid, W. Ochuni, A. Aguzzi, H. M. Lederman, A. Fleischman, J. A. Winkelstein, R. Seger, and M. S. Hershfield. 1997. Adenosine deaminase deficiency in adults. Blood 89:2849-2855.
-
(1997)
Blood
, vol.89
, pp. 2849-2855
-
-
Ozsahin, H.1
Arredondo, F.X.2
Santisteban, I.3
Fhurer, H.4
Tuchschmid, P.5
Ochuni, W.6
Aguzzi, A.7
Lederman, H.M.8
Fleischman, A.9
Winkelstein, J.A.10
Seger, R.11
Hershfield, M.S.12
-
14
-
-
0027434851
-
Novel splicing missense and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease
-
Santisteban, I., F. Arredondo-Vega, S. Kelly, A. Mary, A. Fisher, D. Hummell, K. Weinberg, and M. Hershfield. 1993. Novel splicing missense and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. J. Clin. Invest. 92: 2291-2302.
-
(1993)
J. Clin. Invest.
, vol.92
, pp. 2291-2302
-
-
Santisteban, I.1
Arredondo-Vega, F.2
Kelly, S.3
Mary, A.4
Fisher, A.5
Hummell, D.6
Weinberg, K.7
Hershfield, M.8
-
15
-
-
0028136274
-
Adult onset immunodeficiency caused by inherited adenosine deaminase deficiency
-
Shovlin, C, L., H. A. Simmonds, L. D. Fairbanks, S. J. Deacock, J. M. B. Hughs, R. Lechler, I. Roberts, A. D. B. Webster, X. Sun, J. C. Webb, and A. K. Soutar. 1994. Adult onset immunodeficiency caused by inherited adenosine deaminase deficiency. J. Immunol. 152:2331-2339.
-
(1994)
J. Immunol.
, vol.152
, pp. 2331-2339
-
-
Shovlin, C.L.1
Simmonds, H.A.2
Fairbanks, L.D.3
Deacock, S.J.4
Hughs, J.M.B.5
Lechler, R.6
Roberts, I.7
Webster, A.D.B.8
Sun, X.9
Webb, J.C.10
Soutar, A.K.11
-
16
-
-
0027213371
-
Adult presentation of adenosine deaminase deficiency
-
Shovlin, C. L., J. M. Hughes, H. A. Simmonds, I. Fairbanks, S. Deacock, R. Lechler, I. Roberts, and A. D. Webster. 1993. Adult presentation of adenosine deaminase deficiency. Lancet 341:1471-1473.
-
(1993)
Lancet
, vol.341
, pp. 1471-1473
-
-
Shovlin, C.L.1
Hughes, J.M.2
Simmonds, H.A.3
Fairbanks, I.4
Deacock, S.5
Lechler, R.6
Roberts, I.7
Webster, A.D.8
-
17
-
-
0027602669
-
NIH conference: New insights into common variable immunodeficiency
-
Sneller, M. C., W. Strober, E. Eisenstein, J. S. Jaffe, and C. Cunningham-Rundles. 1993. NIH conference: new insights into common variable immunodeficiency. Ann. Intern. Med. 118:720-730.
-
(1993)
Ann. Intern. Med.
, vol.118
, pp. 720-730
-
-
Sneller, M.C.1
Strober, W.2
Eisenstein, E.3
Jaffe, J.S.4
Cunningham-Rundles, C.5
-
18
-
-
0028203562
-
Heterogeneity of phenotype in two siblings with adcnosine deaminase deficiency
-
Umetsu, D. T., C. M. Schlossman, H. D. Ochs, and M. S. Hershfield. 1994. Heterogeneity of phenotype in two siblings with adcnosine deaminase deficiency. J. Allergy Clin. Immunol. 93:543-550.
-
(1994)
J. Allergy Clin. Immunol.
, vol.93
, pp. 543-550
-
-
Umetsu, D.T.1
Schlossman, C.M.2
Ochs, H.D.3
Hershfield, M.S.4
|