Severe combined immunodeficiency caused by a new homozygous RAG1 mutation with progressive encephalopathy

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-...

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Bibliographic Details
Main Authors: Nivedita Dhingra, Satya Prakash Yadav, Jean-Pierre de Villartay, Capucine Picard, RK Sabharwal, Veronique Dinand, Samarjit Singh Ghuman, Anupam Sachdeva
Format: Article
Language:English
Published: Elsevier 2014-03-01
Series:Hematology/Oncology and Stem Cell Therapy
Online Access:http://www.sciencedirect.com/science/article/pii/S1658387613000939

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http://www.sciencedirect.com/science/article/pii/S1658387613000939

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