European Journal of Pediatrics

, Volume 167, Issue 3, pp 317–321 | Cite as

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
Original Paper
First Online:
Received:
Revised:
Accepted:

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.

Keywords

BTK DDP1 Microdeletion TLR XLA 

Abbreviations

BTK

Bruton’s tyrosine kinase gene

DCs

dedritic cells

DDP1

deafness, dystonia peptide 1 gene

IFN

interferon

Ig

immunoglobulin

IL

interleukin

IV

intravenous

mDCs

myeloid DCs

MTS

Mohr-Tranebjaerg syndrome

NK

natural killer

PBMCs

peripheral blood mononuclear cells

pDC

plasmacytoid DCs

TLR

toll like receptor

TNF

tumor necrosis factor

XLA

X-linked agammaglobulinemia

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Copyright information

© Springer-Verlag 2007

Authors and Affiliations

  • Harumi Jyonouchi
    • 1
  • Lee Geng
    • 1
  • Gökçe A. Törüner
    • 2
  • Kavita Vinekar
    • 3
  • Di Feng
    • 3
  • Patricia Fitzgerald-Bocarsly
    • 3
  1. 1.Department of Pediatrics, Division of Pulmonary, Allergy, Immunology, and Infectious DiseasesUMDNJ–New Jersey Medical SchoolNewarkUSA
  2. 2.Department of Microbiology and Molecular GeneticsUMDNJ–New Jersey Medical SchoolNewarkUSA
  3. 3.Department of Pathology and Laboratory MedicineUMDNJ–New Jersey Medical SchoolNewarkUSA

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