Article
Cernunnos deficiency: a case report.
Journal of investigational allergology & clinical immunology - 1 Jan 2011
Turul T, Tezcan I, Sanal O
Abstract excerpt
B cell-negative severe combined immunodeficiency (SCID) is caused by molecules involved in the variable (diversity) joining (V[D]J) recombination process. Four genes involved in the nonhomologous end joining pathway--Artemis, DNA-PKcs, DNA ligase 4, and Cernunnos--are involved in B cell-negative radiosensitive SCID. Deficiencies in DNA ligase 4 and the recently described Cernunnos gene result in microcephaly,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
