Article
Unrelated Hematopoietic Cell Transplantation in a Patient with Combined Immunodeficiency with Granulomatous Disease and Autoimmunity Secondary to RAG Deficiency.
Journal of clinical immunology - 1 Oct 2016
John Tami, Walter Jolan E, Schuetz Catherina, Chen Karin, Abraham Roshini S, Bonfim Carmem, Boyce Thomas G, Joshi Avni Y, Kang Elizabeth, Carvalho Beatriz Tavares Costa, Mahajerin Arash, Nugent Diane, Puthenveetil Geetha, Soni Amit, Su Helen, Cowan Morton J, Notarangelo Luigi, Buchbinder David
Abstract excerpt
The use of HLA-identical hematopoietic stem cell transplantation (HSCT) demonstrates overall survival rates greater than 75 % for T-B-NK+ severe combined immunodeficiency secondary to pathogenic mutation of recombinase activating genes 1 and 2 (RAG1/2). Limited data exist regarding the use of HSCT in patients with hypomorphic RAG variants marked by greater preservation of RAG activity and associated phenotypes...
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