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DE-627 |
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20231225063823.0 |
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231225s2018 xx |||||o 00| ||eng c |
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|a 10.1016/j.clim.2018.10.005
|2 doi
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|a pubmed24n0966.xml
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|a (DE-627)NLM290020204
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|a (NLM)30368009
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|a (PII)S1521-6616(18)30471-6
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|a DE-627
|b ger
|c DE-627
|e rakwb
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| 041 |
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|a eng
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| 100 |
1 |
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|a Shamriz, Oded
|e verfasserin
|4 aut
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| 245 |
1 |
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|a Hypogammaglobulinemia with decreased class-switched B-cells and dysregulated T-follicular-helper cells in IPEX syndrome
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|c 2018
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|a Text
|b txt
|2 rdacontent
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|a ƒaComputermedien
|b c
|2 rdamedia
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| 338 |
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|a ƒa Online-Ressource
|b cr
|2 rdacarrier
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| 500 |
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|a Date Completed 07.10.2019
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|a Date Revised 07.10.2019
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|a published: Print-Electronic
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|a Citation Status MEDLINE
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|a Copyright © 2018. Published by Elsevier Inc.
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|a Early onset multisystem autoimmunity is commonly the defining feature of IPEX. Recurrent sinopulmonary infections and CVID-like phenotype were not previously recognized as a presentation in IPEX. Herein, we describe three extended family members with IPEX. In addition to autoimmunity, all three had a CVID-like presentation consisting of recurrent sinopulmonary infections, hypogammaglobulinemia and B-cell class switching defect. In vitro studies have shown that the B cell class switching defect is not B cell intrinsic. Additionally, a marked increase in circulating T follicular helper (cTFH) cells with high IFN-γ and IL-17 secretion on stimulation was noted in our patients. The dysregulated cTFH cells could contribute to a decreased B cell class switching. However, the exact mechanism of how expanded and dysregulated cTFH lead to B cell class switching defect and hypogammaglobulinemia in our patients is not clear. Our study could extend the clinical spectrum of IPEX to include a CVID-like presentation
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|a Journal Article
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|a Research Support, N.I.H., Extramural
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4 |
|a Research Support, Non-U.S. Gov't
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| 650 |
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4 |
|a B cell class switching
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| 650 |
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4 |
|a CVID-like
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| 650 |
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|a Follicular T helper cells
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| 650 |
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4 |
|a Hypogammaglobulinemia
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| 650 |
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4 |
|a IPEX
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| 650 |
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4 |
|a cTFH
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| 650 |
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|a FOXP3 protein, human
|2 NLM
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| 650 |
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|a Forkhead Transcription Factors
|2 NLM
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| 650 |
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|a Immunoglobulins, Intravenous
|2 NLM
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| 650 |
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|a Immunologic Factors
|2 NLM
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| 700 |
1 |
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|a Patel, Kiran
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Marsh, Rebecca A
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Bleesing, Jacob
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Joshi, Avni Y
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Lucas, Laura
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Prince, Chengyu
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Pencheva, Bojana B
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Kobrynski, Lisa
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Chandrakasan, Shanmuganathan
|e verfasserin
|4 aut
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| 773 |
0 |
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|i Enthalten in
|t Clinical immunology (Orlando, Fla.)
|d 1999
|g 197(2018) vom: 25. Dez., Seite 219-223
|w (DE-627)NLM098196855
|x 1521-7035
|7 nnns
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| 773 |
1 |
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|g volume:197
|g year:2018
|g day:25
|g month:12
|g pages:219-223
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| 856 |
4 |
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|u http://dx.doi.org/10.1016/j.clim.2018.10.005
|3 Volltext
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|a GBV_USEFLAG_A
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|a AR
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|d 197
|j 2018
|b 25
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|h 219-223
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