Mutations causing severe combined immunodeficiency: detection with a custom resequencing microarray

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Peter D. Stenson, Edward V. Ball, Matthew Mort et al. · Human Mutation · 2003 · 1.9K citations

Life Sciences, Genetics, Molecular Genetics +15

Primary immunodeficiency diseases: An update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee

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Development of population-based newborn screening for severe combined immunodeficiency

Kee Chan, Jennifer M. Puck · Journal of Allergy and Clinical Immunology · 2005 · 418 citations · Full text

Medicine, Immunology, Pediatrics +12

Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival

Laurie A. Myers, Dhavalkumar D. Patel, Jennifer M. Puck et al. · Blood · 2002 · 343 citations

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The interleukin-2 receptor γ chain maps to Xq13.1 and is mutated in X-linked severe combined immunodeficiency, SCIDX1

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