Severe phenotype of severe combined immunodeficiency caused by adenosine deaminase deficiency in a patient with a homozygous mutation due to uniparental disomy-Reference-Cited by-同舟云学术

Severe phenotype of severe combined immunodeficiency caused by adenosine deaminase deficiency in a patient with a homozygous mutation due to uniparental disomy

Published:2013-07 Issue:1 Volume:132 Page:222-223
ISSN:0091-6749
Container-title:Journal of Allergy and Clinical Immunology
language:en
Short-container-title:Journal of Allergy and Clinical Immunology

Author:

Geelen Joyce,Pfundt Rolph,Meijer Judith,Verheijen Frans W.,van Kuilenburg Andre B.P.,Warris Adilia,Marcelis Carlo

Publisher

Elsevier BV

Subject

Immunology,Immunology and Allergy

Reference10 articles.

1. New insights into the pathogenesis of adenosine deaminase-severe combined immunodeficiency and progress in gene therapy;Sauer;Curr Opin Allergy Clin Immunol,2009

2. How do I treat ADA deficiency;Gaspar;Blood,2009

3. Two new mutations at the adenosine deaminase (ADA) locus (Q254X and dek nt1050-54) unusual for not being missense mutations;Hirschhorn;Hum Mutat,1993

4. 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;J Clin Invest,1993

5. A homozygous 5 base-pair deletion in exon 10 of the adenosine deaminase (ADA) gene in a child with severe combined immunodeficiency and very low levels of ADA mRNA and protein;Gossage;Hum Mol Genet,1993

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