I. Santisteban

Purine nucleoside phosphorylase deficiency in two unrelated Saudi patients (2009)

Alangari, A, Al-Harbi, A, Al-Ghonaium, A, Santisteban, I, Hershfield, M

Adenosine deaminase deficiency in adults. (1997)

Ozsahin, H, Arredondo-Vega, F X, Santisteban, I, Fuhrer, H, Tuchschmid, P, Jochum, W, ...

Adenosine deaminase (ADA) deficiency typically causes severe combined immunodeficiency (SCID) in infants. We report metabolic, immunologic, and genetic findings in two ADA-deficient adults with...

Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype.

Santisteban, I, Arredondo-Vega, F X, Kelly, S, Mary, A, Fischer, A, Hummell, D S, ...

We examined the genetic basis for adenosine deaminase (ADA) deficiency in seven patients with late/delayed onset of immunodeficiency, an underdiagnosed and relatively unstudied condition....

Paradoxical expression of adenosine deaminase in T cells cultured from a patient with adenosine deaminase deficiency and combine immunodeficiency.

Arredondo-Vega, F X, Kurtzberg, J, Chaffee, S, Santisteban, I, Reisner, E, Povey, M S, ...

T lymphocytes cultured from a patient (T.D.) with adenosine deaminase (ADA) deficiency expressed ADA activity in the normal range, inconsistent with her severe immunodeficiency, metabolic...

Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles.

Arredondo-Vega, F X, Santisteban, I, Daniels, S, Toutain, S, Hershfield, M S

Adenosine deaminase (ADA) deficiency causes lymphopenia and immunodeficiency due to toxic effects of its substrates. Most patients are infants with severe combined immunodeficiency disease (SCID),...

Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype.

Santisteban, I, Arredondo-Vega, F X, Kelly, S, Mary, A, Fischer, A, Hummell, D S, ...

We examined the genetic basis for adenosine deaminase (ADA) deficiency in seven patients with late/delayed onset of immunodeficiency, an underdiagnosed and relatively unstudied condition....

Paradoxical expression of adenosine deaminase in T cells cultured from a patient with adenosine deaminase deficiency and combine immunodeficiency.

Arredondo-Vega, F X, Kurtzberg, J, Chaffee, S, Santisteban, I, Reisner, E, Povey, M S, ...

T lymphocytes cultured from a patient (T.D.) with adenosine deaminase (ADA) deficiency expressed ADA activity in the normal range, inconsistent with her severe immunodeficiency, metabolic...

Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles.

Arredondo-Vega, F X, Santisteban, I, Daniels, S, Toutain, S, Hershfield, M S

Adenosine deaminase (ADA) deficiency causes lymphopenia and immunodeficiency due to toxic effects of its substrates. Most patients are infants with severe combined immunodeficiency disease (SCID),...

Correct splicing despite mutation of the invariant first nucleotide of a 5' splice site: a possible basis for disparate clinical phenotypes in siblings with adenosine deaminase deficiency.

Arredondo-Vega, F. X., Santisteban, I., Kelly, S., Schlossman, C. M., Umetsu, D. T., Hershfield, M. S.

Adenosine deaminase (ADA) deficiency usually causes severe combined immune deficiency in infancy. Milder phenotypes, with delayed or late onset and gradual decline in immune function, also occur and...