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231225s2021 xx |||||o 00| ||eng c |
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|a 10.1016/j.clim.2021.108799
|2 doi
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|a pubmed24n1094.xml
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|a (PII)S1521-6616(21)00136-4
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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 Perez-Heras, Iñigo
|e verfasserin
|4 aut
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| 245 |
1 |
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|a HSCT in two brothers with CGD arising from mutations in CYBC1 corrects the defect in neutrophil function
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|c 2021
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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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|a ƒa Online-Ressource
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|2 rdacarrier
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|a Date Completed 16.09.2021
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|a Date Revised 16.09.2021
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|a published: Print-Electronic
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|a Citation Status MEDLINE
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|a Copyright © 2021 Elsevier Inc. All rights reserved.
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|a Homozygous mutations in cytochrome b-245 chaperone 1 (CYBC1) have been recently described as causing recurrent infections and inflammatory disease in an Icelandic cohort and a patient from Saudi Arabia, by destabilising the dimerisation of gp91phox with p22phox, manifesting as phenotypic chronic granulomatous disease (CGD). Haematopoietic stem cell transplantation is the treatment of choice in CGD, though experience of transplantation in this subtype of CGD is limited to a brief description in one patient. We provide clinical and transplant data for two Icelandic brothers with CGD due to homozygous p.Tyr2Ter mutations in CYBC1, demonstrating maintained cure of the immune defect 11 years post-transplant in one brother, and death in the peri-transplant period for the other
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|a Case Reports
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|a Journal Article
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|a Research Support, Non-U.S. Gov't
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|a CGD
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| 650 |
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|a CYBC1
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| 650 |
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|a HSCT
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| 650 |
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|a Iceland
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|a NADPH
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|a Oxidative burst
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| 650 |
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|a CYBC1 protein, human
|2 NLM
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| 650 |
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|a Membrane Proteins
|2 NLM
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| 700 |
1 |
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|a Tsilifis, Christo
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Slatter, Mary A
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Brynjólfsson, Siggeir F
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Haraldsson, Ásgeir
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Gennery, Andrew R
|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 229(2021) vom: 15. Aug., Seite 108799
|w (DE-627)NLM098196855
|x 1521-7035
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|g volume:229
|g year:2021
|g day:15
|g month:08
|g pages:108799
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|u http://dx.doi.org/10.1016/j.clim.2021.108799
|3 Volltext
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