I. Santisteban

发表

Treating gout with pegloticase, a PEGylated urate oxidase, provides insight into the importance of uric acid as an antioxidant in vivo

M. Hershfield, L. Roberts, N. Ganson, 2010, Proceedings of the National Academy of Sciences.

Clinical expression, genetics and therapy of adenosine deaminase (ADA) deficiency

F. Arredondo-Vega, M. Hershfield, I. Santisteban, 1997, Journal of Inherited Metabolic Disease.

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.

K. Weinberg, F. Arredondo-Vega, M. Hershfield, 1993, The Journal of clinical investigation.

Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency.

M. Hershfield, R. Guerrini, G. la Marca, 2013, The Journal of allergy and clinical immunology.

ADA‐SCID with ‘WAZA‐ARI’ mutations that synergistically abolished ADA protein stability

O. Ohara, M. Yamada, I. Kobayashi, 2011, British journal of haematology.

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

J. Kurtzberg, F. Arredondo-Vega, M. Hershfield, 1990, The Journal of clinical investigation.

Polyethylene Glycol-Conjugated Adenosine Deaminase (ADA) Therapy Provides Temporary Immune Reconstitution to a Child with Delayed-Onset ADA Deficiency

W. Friedrich, T. Niehues, I. Santisteban, 2005, Clinical Diagnostic Laboratory Immunology.

Four new adenosine deaminase mutations, altering a zinc‐binding histidine, two conserved alanines, and a 5′ splice site

D. Dreyfus, E. Gelfand, P. Howell, 1995, Human mutation.

Hepatic Dysfunction as a Complication of Adenosine Deaminase Deficiency

F. Arredondo-Vega, M. Hershfield, H. Lederman, 1996 .

Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined immunodeficiency: G74C, V129M, G140E, R149W, Q199P, 462delG, and E337del

F. Arredondo-Vega, M. Hershfield, L. Notarangelo, 1998 .

Immunologic reconstitution during PEG-ADA therapy in an unusual mosaic ADA deficient patient.

H. Ochs, T. Torgerson, A. Scharenberg, 2009, Clinical immunology.

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.

D. Umetsu, F. Arredondo-Vega, M. Hershfield, 1994, American journal of human genetics.

Two patients with novel missense mutation in the purine nucleoside phosphorylase gene without serious or recurrent infections

M. Hershfield, E. Kıykım, I. Barlan, 2016 .

Adenosine deaminase deficiency in adults.

A. Aguzzi, F. Arredondo-Vega, A. Fleischman, 1997, Blood.

Diagnosis, Treatment and Long-Term Follow Up of Patients with ADA Deficiency: a Single-Center Experience

M. Hershfield, L. Notarangelo, L. Imberti, 2015, Journal of Clinical Immunology.

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

F. Arredondo-Vega, M. Hershfield, I. Santisteban, 1998, American journal of human genetics.

Late-onset adenosine deaminase deficiency presenting with Heck’s disease

M. Hershfield, H. Artaç, I. Santisteban, 2010, European Journal of Pediatrics.

Adenosine deaminase deficiency with mosaicism for a "second-site suppressor" of a splicing mutation: decline in revertant T lymphocytes during enzyme replacement therapy.

A. Al-ghonaium, E. Richard, F. Arredondo-Vega, 2002, Blood.

Somatic Mosaicism Caused by Monoallelic Reversion of a Mutation in T Cells of a Patient with ADA‐SCID and the Effects of Enzyme Replacement Therapy on the Revertant Phenotype

J. Franco, F. Candotti, I. Santisteban, 2011, Scandinavian journal of immunology.

Full hematopoietic engraftment after allogeneic bone marrow transplantation without cytoreduction in a child with severe combined immunodeficiency.

W. Sanger, S. Pirruccello, P. Coccia, 2001, Blood.

The Binding Site of Human Adenosine Deaminase for Cd26/Dipeptidyl Peptidase IV

E. Richard, F. Arredondo-Vega, D. Patel, 2000, The Journal of experimental medicine.

The Genetic and Metabolic Basis of ADA Deficiency

F. Arredondo-Vega, M. Hershfield, I. Santisteban, 1993 .

Delayed-onset adenosine deaminase deficiency: strategies for an early diagnosis.

K. Schwarz, S. Ehl, M. Hershfield, 2012, The Journal of allergy and clinical immunology.

Brief report: hepatic dysfunction as a complication of adenosine deaminase deficiency.

F. Arredondo-Vega, M. Hershfield, H. Lederman, 1996, The New England journal of medicine.

Successful bone marrow transplantation with reduced intensity conditioning in a patient with delayed‐onset adenosine deaminase deficiency

H. Kanegane, T. Ariga, T. Miyawaki, 2013, Pediatric transplantation.

E. coli expression system for identifying folding mutations of human adenosine deaminase.

F. Arredondo-Vega, M. Hershfield, I. Santisteban, 2003, Methods in molecular biology.

ADA Deficiency: Evaluation of the Clinical and Laboratory Features and the Outcome

O. Sanal, I. Tezcan, M. Hershfield, 2018, Journal of Clinical Immunology.

Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots.

L. Notarangelo, A. Gennery, M. Hershfield, 2014, The Journal of allergy and clinical immunology.

Three new adenosine deaminase mutations that define a splicing enhancer and cause severe and partial phenotypes: implications for evolution of a CpG hotspot and expression of a transduced ADA cDNA.

K. Weinberg, P. Howell, F. Arredondo-Vega, 1995, Human molecular genetics.

Severe Combined Immunodeficiencies Resulting from Impaired Purine Metabolism: Single Center Experience

M. Hershfield, I. Santisteban, H. H. Akar, 2016 .

Purine nucleoside phosphorylase deficiency with fatal course in two sisters

M. Hershfield, A. Ikinciogullari, C. Aytekin, 2010, European Journal of Pediatrics.

Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined immunodeficiency: G74C, V129M, G140E, R149W, Q199P, 462delG, and E337del. Mutations in brief no. 142. Online.

M. Hershfield, L. Notarangelo, C. Roifman, 1998, Human mutation.

Purine nucleoside phosphorylase deficiency in two unrelated Saudi patients

A. Al-ghonaium, M. Hershfield, I. Santisteban, 2009, Annals of Saudi medicine.

ADA Deficiency: Evaluation of the Clinical and Laboratory Features and the Outcome

O. Sanal, I. Tezcan, M. Hershfield, 2018, Journal of Clinical Immunology.

Diagnosis, Treatment and Long-Term Follow Up of Patients with ADA Deficiency: a Single-Center Experience

M. Hershfield, L. Notarangelo, L. Imberti, 2015, Journal of Clinical Immunology.