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European Journal of Pediatrics

Erschienen in:

01.03.2008 | Original Paper

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

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

Erschienen in: European Journal of Pediatrics | Ausgabe 3/2008

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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.

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Titel: Monozygous twins with a microdeletion syndrome involving BTK, DDP1, and two other genes; evidence of intact dendritic cell development and TLR responses
verfasst von: Harumi Jyonouchi
Lee Geng
Gökçe A. Törüner
Kavita Vinekar
Di Feng
Patricia Fitzgerald-Bocarsly
Publikationsdatum: 01.03.2008
Verlag: Springer-Verlag
Erschienen in: European Journal of Pediatrics / Ausgabe 3/2008
Print ISSN: 0340-6199
Elektronische ISSN: 1432-1076
DOI: https://doi.org/10.1007/s00431-007-0493-0

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