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Article

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

Hematology/oncology and stem cell therapy - 1 Mar 2014

Dhingra Nivedita, Yadav Satya Prakash, de Villartay Jean-Pierre, Picard Capucine, Sabharwal R K, Dinand Veronique, Ghuman Samarjit Singh, Sachdeva Anupam

Abstract excerpt

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 with ipsilateral hemiparesis and became comatose....

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Identifiers

PMID: 24333136
DOI: 10.1016/j.hemonc.2013.11.001

Genes

RAG1

Variants

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