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

doi:10.1007/s00431-007-0493-0

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 journal › Article › peer-review

17 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 language	English (US)
Pages (from-to)	317-321
Number of pages	5
Journal	European Journal of Pediatrics
Volume	167
Issue number	3
DOIs	https://doi.org/10.1007/s00431-007-0493-0
State	Published - Mar 2008
Externally published	Yes

Keywords

BTK
DDP1
Microdeletion
TLR
XLA

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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10.1007/s00431-007-0493-0

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

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",

author = "Harumi Jyonouchi and Lee Geng and T{\"o}r{\"u}ner, {G{\"o}k{\c c}e A.} and Kavita Vinekar and Di Feng and Patricia Fitzgerald-Bocarsly",

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AU - Jyonouchi, Harumi

AU - Geng, Lee

AU - Törüner, Gökçe A.

AU - Vinekar, Kavita

AU - Feng, Di

AU - Fitzgerald-Bocarsly, Patricia

PY - 2008/3

Y1 - 2008/3

N2 - 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.

AB - 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.

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KW - Microdeletion

KW - TLR

KW - XLA

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

Abstract

Keywords

ASJC Scopus subject areas

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