Monozygous twins with a microdeletion syndrome involving BTK, DDP1, and two other genes; Evidence of intact dendritic cell development and TLR responses

Harumi Jyonouchi, Lee Geng, Gökçe A. Törüner, Kavita Vinekar, Di Feng, Patricia Fitzgerald-Bocarsly

Research output: Contribution to journalArticlepeer-review

16 Scopus citations

Abstract

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 revealed normal numbers of plasmacytoid and myeloid DCs (pDCs and mDCs). Moreover, BTK null cells from these patients exhibited robust responses to TLR agonists, normal natural killer (NK) cell activity, and normal pDC functions. Conclusion: Our results do not indicate the essential role of Btk in TLR signaling and DC development.

Original languageEnglish (US)
Pages (from-to)317-321
Number of pages5
JournalEuropean Journal of Pediatrics
Volume167
Issue number3
DOIs
StatePublished - Mar 2008

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health

Keywords

  • BTK
  • DDP1
  • Microdeletion
  • TLR
  • XLA

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