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231225s2020 xx |||||o 00| ||eng c |
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|a 10.1016/j.clim.2019.108311
|2 doi
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|a pubmed25n1011.xml
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|a (DE-627)NLM303626267
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|a (NLM)31760094
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|a (PII)S1521-6616(19)30634-5
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|a DE-627
|b ger
|c DE-627
|e rakwb
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|a eng
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| 100 |
1 |
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|a Wallace, Jacqueline G
|e verfasserin
|4 aut
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| 245 |
1 |
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|a Dysregulated actin dynamics in activated PI3Kδ syndrome
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| 264 |
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|c 2020
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| 336 |
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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 31.07.2020
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|a Date Revised 22.09.2024
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|a published: Print-Electronic
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|a Citation Status MEDLINE
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|a Copyright © 2019 Elsevier Inc. All rights reserved.
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|a Activated PI3Kδ syndrome (APDS) Type I results from gain-of-function mutations in PIK3CD, which encodes the p110δ subunit of PI3Kδ. Abnormal actin dynamics have been hypothesized to contribute to the lymphopenia associated with this disease but have not been studied in patients with APDS. We report a patient with APDS who had widespread necrotic skin lesions that were responsive specifically to immunosuppressive therapy. EBV-transformed lymphoblastoid cells (EBV-LCLs) from patients with APDS exhibit increased polymerized actin and increased apoptosis, suggesting a contribution of impaired actin dynamics to this disease
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|a Case Reports
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|a Journal Article
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|a Research Support, N.I.H., Extramural
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| 650 |
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|a Research Support, Non-U.S. Gov't
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| 650 |
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4 |
|a APDS
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| 650 |
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4 |
|a Actin
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| 650 |
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4 |
|a PI3Kδ
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| 650 |
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7 |
|a Actins
|2 NLM
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| 650 |
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|a Class I Phosphatidylinositol 3-Kinases
|2 NLM
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| 650 |
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|a EC 2.7.1.137
|2 NLM
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| 650 |
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|a PIK3CD protein, human
|2 NLM
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| 650 |
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7 |
|a EC 2.7.1.137
|2 NLM
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| 700 |
1 |
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|a Zambrano-Rodas, Pedro
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Córdova-Calderón, Wilmer
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Estrada-Turriate, Santiago
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Mendoza-Quispe, Daniel
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Limache Ontiveros, Yesenia
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Geha, Raif S
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Chou, Janet
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Platt, Craig D
|e verfasserin
|4 aut
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| 773 |
0 |
8 |
|i Enthalten in
|t Clinical immunology (Orlando, Fla.)
|d 1999
|g 210(2020) vom: 20. Jan., Seite 108311
|w (DE-627)NLM098196855
|x 1521-7035
|7 nnas
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| 773 |
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|g volume:210
|g year:2020
|g day:20
|g month:01
|g pages:108311
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|u http://dx.doi.org/10.1016/j.clim.2019.108311
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