SCID patients with ARTEMIS vs RAG deficiencies following HCT: increased risk of late toxicity in ARTEMIS-deficient SCID.

doi:10.1182/blood-2013-01-476432

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Article

SCID patients with ARTEMIS vs RAG deficiencies following HCT: increased risk of late toxicity in ARTEMIS-deficient SCID.

Blood - 9 Jan 2014

Schuetz Catharina, Neven Benedicte, Dvorak Christopher C, Leroy Sandrine, Ege Markus J, Pannicke Ulrich, Schwarz Klaus, Schulz Ansgar S, Hoenig Manfred, Sparber-Sauer Monika, Gatz Susanne A, Denzer Christian, Blanche Stephane, Moshous Despina, Picard Capucine, Horn Biljana N, de Villartay Jean-Pierre, Cavazzana Marina, Debatin Klaus-Michael, Friedrich Wilhelm, Fischer Alain, Cowan Morton J

Abstract excerpt

A subgroup of severe combined immunodeficiencies (SCID) is characterized by lack of T and B cells and is caused by defects in genes required for T- and B-cell receptor gene rearrangement. Several of these genes are also involved in nonhomologous end joining of DNA double-strand break repair, the largest subgroup consisting of patients with T(-)B(-)NK(+)SCID due to DCLRE1C/ARTEMIS defects. We postulated that in...

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PMID: 24144642
DOI: 10.1182/blood-2013-01-476432
PMCID: PMC3953035

Genes

RAG1

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SCID patients with ARTEMIS vs RAG deficiencies following HCT: increased risk of late toxicity in ARTEMIS-deficient SCID.PMID 24144642Read ↗

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