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

@article{Dhingra2014SevereCI,
  title={Severe combined immunodeficiency caused by a new homozygous RAG1 mutation with progressive encephalopathy.},
  author={Nivedita Dhingra and Satya Prakash Yadav and Jean-Pierre de Villartay and Capucine Picard and Ravjit Kaur Sabharwal and V{\'e}ronique Dinand and Samarjit Singh Ghuman and Anupam Sachdeva},
  journal={Hematology/oncology and stem cell therapy},
  year={2014},
  volume={7 1},
  pages={44-9}
}
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-NK+ SCID. He subsequently developed right partial seizures… CONTINUE READING