Identification of severe combined immunodeficiency by T-cell receptor excision circles quantification using neonatal guthrie cards.

[1]  D. Babovic‐Vuksanovic,et al.  High incidence of profound biotinidase deficiency detected in newborn screening blood spots in the Somalian population in Minnesota , 2009, Journal of Inherited Metabolic Disease.

[2]  Edward R B McCabe,et al.  Two-tiered universal newborn screening strategy for severe combined immunodeficiency. , 2005, Molecular genetics and metabolism.

[3]  A. Fischer,et al.  A novel immunodeficiency associated with hypomorphic RAG1 mutations and CMV infection. , 2005, The Journal of clinical investigation.

[4]  U. Pannicke,et al.  A variant of SCID with specific immune responses and predominance of γδ T cells , 2005 .

[5]  E. Stiehm,et al.  Potential costs and benefits of newborn screening for severe combined immunodeficiency. , 2005, The Journal of pediatrics.

[6]  A. Fischer,et al.  Severe combined immunodeficiency. A model disease for molecular immunology and therapy , 2005, Immunological reviews.

[7]  J. Puck,et al.  Development of population-based newborn screening for severe combined immunodeficiency. , 2005, The Journal of allergy and clinical immunology.

[8]  R. Buckley.  Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution. , 2004, Annual review of immunology.

[9]  M. Hershfield.  Genotype is an important determinant of phenotype in adenosine deaminase deficiency. , 2003, Current opinion in immunology.

[10]  A. Fischer,et al.  Long-term survival and transplantation of haemopoietic stem cells for immunodeficiencies: report of the European experience 1968–99 , 2003, The Lancet.

[11]  J. Puck,et al.  Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival. , 2002, Blood.

[12]  Rob J. de Boer,et al.  Increased cell division but not thymic dysfunction rapidly affects the T-cell receptor excision circle content of the naive T cell population in HIV-1 infection , 2000, Nature Medicine.

[13]  B. Haynes,et al.  Thymic function after hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency. , 2000, The New England journal of medicine.

[14]  R. Koup,et al.  Identification of a human recent thymic emigrant phenotype. , 2000, Proceedings of the National Academy of Sciences of the United States of America.

[15]  J. Roberts,et al.  Hematopoietic stem-cell transplantation for the treatment of severe combined immunodeficiency. , 1999, The New England journal of medicine.

[16]  Louis J. Picker,et al.  Changes in thymic function with age and during the treatment of HIV infection , 1998, Nature.

[17]  J. Puck,et al.  Human severe combined immunodeficiency: genetic, phenotypic, and functional diversity in one hundred eight infants. , 1997, The Journal of pediatrics.

[18]  S. Korsmeyer,et al.  Deletion of the human T-cell receptor δ-gene by a site-specific recombination , 1988, Nature.

[19]  E. Giblett,et al.  Adenosine-deaminase deficiency in two patients with severely impaired cellular immunity. , 1972, Lancet.