Article
Monozygous twins with a microdeletion syndrome involving BTK, DDP1, and two other genes; evidence of intact dendritic cell development and TLR responses.
European journal of pediatrics - 1 Mar 2008
Jyonouchi Harumi, Geng Lee, Törüner Gökçe A, Vinekar Kavita, Feng Di, Fitzgerald-Bocarsly Patricia
Abstract excerpt
UNLABELLED: We report for the first time monozygous twins with a microdeletion syndrome involving genes coding for Bruton's tyrosine kinase (Btk) and deafness-dystonia peptide 1 (DDP1), and two other genes. Apart from its essential role in B cell development, Btk is indicated to affect signaling mediated by toll like receptors (TLRs) and development of dendritic cells (DCs) but results are conflictive. The twins...
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