Article
Radiosensitive SCID patients with Artemis gene mutations show a complete B-cell differentiation arrest at the pre-B-cell receptor checkpoint in bone marrow.
Blood - 15 Feb 2003
Noordzij Jeroen G, Verkaik Nicole S, van der Burg Mirjam, van Veelen Lieneke R, de Bruin-Versteeg Sandra, Wiegant Wouter, Vossen Jaak M J J, Weemaes Corry M R, de Groot Ronald, Zdzienicka Malgorzata Z, van Gent Dik C, van Dongen Jacques J M
Abstract excerpt
Severe combined immunodeficiency disease (SCID) can be immunologically classified by the absence or presence of T, B, and natural killer (NK) cells. About 30% of T(-)B(-)NK(+) SCID patients carry mutations in the recombination activating genes (RAG). Some T(-)B(-)NK(+) SCID patients without RAG gene mutations are sensitive to ionizing radiation, and several of these radiosensitive (RS) SCID patients were recently...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.