Article
Correction of autoimmune lymphoproliferative syndrome by bone marrow transplantation.
Bone marrow transplantation - 1 Aug 1998
Sleight B J, Prasad V S, DeLaat C, Steele P, Ballard E, Arceci R J, Sidman C L
Abstract excerpt
This report describes a child with a severe phenotype of autoimmune lymphoproliferative syndrome (ALPS) who developed progressive disease requiring stem cell transplantation. This severe form of ALPS was associated with a novel Fas gene splice site mutation that resulted in functional deletion of exons 8 and 9. While this child shared many clinical features with previously described ALPS cases, including massive...
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