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20231226064655.0 |
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231226s2023 xx |||||o 00| ||eng c |
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|a 10.1016/j.clim.2023.109316
|2 doi
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|a pubmed24n1185.xml
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|a (DE-627)NLM355593459
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|a (NLM)37055004
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|a (PII)S1521-6616(23)00095-5
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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 Chiriaco, Maria
|e verfasserin
|4 aut
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| 245 |
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|a Characterization of AR-CGD female patient with a novel homozygous deletion in CYBC1 gene presenting with unusual clinical phenotype
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|c 2023
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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
|b cr
|2 rdacarrier
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|a Date Completed 23.05.2023
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|a Date Revised 23.05.2023
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|a published: Print-Electronic
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|a Citation Status MEDLINE
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|a Copyright © 2023 Elsevier Inc. All rights reserved.
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|a Chronic granulomatous disease (CGD) is a human IEI caused by mutations in genes encoding the NADPH oxidase subunits, the enzyme responsible for the respiratory burst. CGD patients have severe life-threatening infections, hyperinflammation and immune dysregulation. Recently, an additional autosomal recessive AR-CGD (type 5) caused by mutations in CYBC1/EROS gene was identified. We report a AR-CGD5 patient with a novel loss of function (LOF) homozygous deletion c.8_7del in the CYBC1 gene including the initiation ATG codon that leads to failure of CYBC1/EROS protein expression and presenting with an unusual clinical manifestation of childhood-onset sarcoidosis-like disease requiring multiple immunosuppressive therapies. We described an abnormal gp91phox protein expression/function in the patient's neutrophils and monocytes (about 50%) and a severely compromised B cell subset (gp91phox < 15%; DHR+ < 4%). Our case-report emphasized the importance of considering a diagnosis of AR-CGD5 deficiency even in absence of typical clinical and laboratory findings
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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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| 650 |
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|a AR-CGD5
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| 650 |
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|a CYBC1/EROS NADPH oxidase activity
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|a Inflammation
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| 650 |
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|a NADPH Oxidases
|2 NLM
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| 650 |
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|a EC 1.6.3.-
|2 NLM
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| 700 |
1 |
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|a De Matteis, Arianna
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Cifaldi, Cristina
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Di Matteo, Gigliola
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Rivalta, Beatrice
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Passarelli, Chiara
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Perrone, Chiara
|e verfasserin
|4 aut
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| 700 |
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|a Novelli, Antonio
|e verfasserin
|4 aut
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| 700 |
1 |
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|a De Benedetti, Fabrizio
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Insalaco, Antonella
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Palma, Paolo
|e verfasserin
|4 aut
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| 700 |
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|a Finocchi, Andrea
|e verfasserin
|4 aut
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| 773 |
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|i Enthalten in
|t Clinical immunology (Orlando, Fla.)
|d 1999
|g 251(2023) vom: 01. Juni, Seite 109316
|w (DE-627)NLM098196855
|x 1521-7035
|7 nnns
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| 773 |
1 |
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|g volume:251
|g year:2023
|g day:01
|g month:06
|g pages:109316
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| 856 |
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|u http://dx.doi.org/10.1016/j.clim.2023.109316
|3 Volltext
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|a GBV_USEFLAG_A
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|a SYSFLAG_A
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|a GBV_NLM
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|a GBV_ILN_11
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|a GBV_ILN_24
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|a GBV_ILN_350
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|a AR
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|d 251
|j 2023
|b 01
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|h 109316
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