Severe combined immunodeficiency caused by a new homozygous RAG1 mutation with progressive encephalopathy
We describe an unusual case of severe combined immunodeficiency (SCID) with neutropenia and central nervous system (CNS) manifestations in which a novel RAG1 mutation was identified. A 15-month-old boy presented with failure to thrive, neutropenia and recurrent infections. He was diagnosed with T-B-...
Main Authors: | , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Elsevier
2014-03-01
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Series: | Hematology/Oncology and Stem Cell Therapy |
Online Access: | http://www.sciencedirect.com/science/article/pii/S1658387613000939 |