Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency
Tài liệu tham khảo
Notarangelo, 2010, Primary immunodeficiencies, J Allergy Clin Immunol, 125, S182, 10.1016/j.jaci.2009.07.053
Wilson JMG, Jungner G. Principles and practices of screening for disease. WHO Report no. 34, 1968. Available at: http://whqlibdoc.who.int/php/WHO_PHP_34.pdf. Accessed December 17, 2012.
Health Resources and Services Administration. Secretary's Advisory Committee on Heritable Disorders in Newborns and Children. Resolution from the 20th meeting, Washington. DC, January 22. 2010. Available at: http://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/meetings/twentieth/minutes.pdf. Accessed December 17, 2012
Puck, 2012, Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: the winner is T-cell receptor excision circles, J Allergy Clin Immunol, 129, 607, 10.1016/j.jaci.2012.01.032
Comeau, 2010, Guidelines for implementation of population-based newborn screening for severe combined immunodeficiency, J Inherit Metab Dis, 33, 273, 10.1007/s10545-010-9103-9
Sauer, 2009, New insights into the pathogenesis of adenosine deaminase-severe combined immunodeficiency and progress in gene therapy, Curr Opin Allergy Clin Immunol, 9, 496, 10.1097/ACI.0b013e3283327da5
Sanchez, 2007, Carrier frequency of a nonsense mutation in the adenosine deaminase (ADA) gene implies a high incidence of ADA-deficient severe combined immunodeficiency (SCID) in Somalia and a single, common haplotype indicates common ancestry, Ann Hum Genet, 71, 336, 10.1111/j.1469-1809.2006.00338.x
Arredondo-Vega, 1998, Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles, Am J Hum Genet, 63, 1049, 10.1086/302054
Felgentreff, 2011, Clinical and immunological manifestations of patients with atypical severe combined immunodeficiency, Clin Immunol, 141, 73, 10.1016/j.clim.2011.05.007
Gaspar, 2010, Bone marrow transplantation and alternatives for adenosine deaminase deficiency, Immunol Allergy Clin North Am, 30, 221, 10.1016/j.iac.2010.01.002
Gaspar, 2009, How I treat ADA deficiency, Blood, 114, 3524, 10.1182/blood-2009-06-189209
Azzari, 2011, Neonatal screening for severe combined immunodeficiency caused by an adenosine deaminase defect: a reliable and inexpensive method using tandem mass spectrometry, J Allergy Clin Immunol, 127, 1394, 10.1016/j.jaci.2011.03.040
Chace, 2009, Mass spectrometry in newborn and metabolic screening: historical perspective and future directions, J Mass Spectrom, 44, 163, 10.1002/jms.1528
Speckmann, 2012, Delayed-onset adenosine deaminase deficiency: strategies for an early diagnosis, J Allergy Clin Immunol, 130, 991, 10.1016/j.jaci.2012.04.004
la Marca, 2008, The inclusion of succinylacetone as marker for tyrosinemia type I in expanded newborn screening programs, Rapid Commun Mass Spectrom, 22, 812, 10.1002/rcm.3428
la Marca, 2006, Implementing tandem mass-spectrometry as a routine tool for characterizing the complete purines and pyrimidines metabolic profile in urine samples, J Mass Spectrom, 41, 1442, 10.1002/jms.1115
Fairbanks, 2000, ADA activity and DATP levels in erythrocytes after bone marrow transplantation, Adv Exp Med Biol, 486, 51, 10.1007/0-306-46843-3_10
Arredondo-Vega, 1990, Paradoxical expression of adenosine deaminase in T cells cultured from a patient with adenosine deaminase deficiency and combine immunodeficiency, J Clin Invest, 86, 444, 10.1172/JCI114730
Hirschhorn, 1986, Genetic heterogeneity in adenosine deaminase (ADA) deficiency: five different mutations in five new patients with partial ADA deficiency, Am J Hum Genet, 38, 13
Arredondo-Vega, 2002, Adenosine deaminase deficiency with mosaicism for a “second-site suppressor” of a splicing mutation: decline in revertant T lymphocytes during enzyme replacement therapy, Blood, 99, 1005, 10.1182/blood.V99.3.1005
Baker, 2009, Development of a routine newborn screening protocol for severe combined immunodeficiency, J Allergy Clin Immunol, 124, 522, 10.1016/j.jaci.2009.04.007
Ariga, 2001, Molecular basis for paradoxical carriers of adenosine deaminase (ADA) deficiency that show extremely low levels of ADA activity in peripheral blood cells without immunodeficiency, J Immunol, 166, 1698, 10.4049/jimmunol.166.3.1698
Hirschhorn, 1979, Erythrocyte adenosine deaminase deficiency without immunodeficiency. Evidence for an unstable mutant enzyme, J Clin Invest, 64, 1130, 10.1172/JCI109552
Santisteban, 1995, 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, Hum Mol Genet, 4, 2081, 10.1093/hmg/4.11.2081
Shovlin, 1994, Adult onset immunodeficiency caused by inherited adenosine deaminase deficiency, J Immunol, 153, 2331, 10.4049/jimmunol.153.5.2331
Ozsahin, 1997, Adenosine deaminase deficiency in adults, Blood, 89, 2849, 10.1182/blood.V89.8.2849
