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231223s2009 xx |||||o 00| ||eng c |
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|a 10.1016/j.clim.2009.01.014
|2 doi
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|a pubmed25n0622.xml
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|a eng
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|a McCusker, Christine
|e verfasserin
|4 aut
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|a Relative CD4 lymphopenia and a skewed memory phenotype are the main immunologic abnormalities in a child with Omenn syndrome due to homozygous RAG1-C2633T hypomorphic mutation
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|c 2009
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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 09.06.2009
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|a Date Revised 18.05.2009
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|a published: Print-Electronic
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|a Citation Status MEDLINE
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|a We report a child with Omenn syndrome (OS) due to homozygous RAG1-C2633T mutations who had an unusual clinical and immunological presentation. She had delayed onset of OS-associated clinical features, had cleared a number of potentially fatal pathogens including respiratory syncytial virus, parainfluenza-3 virus and rotavirus, and was thriving at diagnosis. Laboratory assessment showed normal T and B lymphocyte number and function. T-cell-receptor repertoire in the blood was relatively diverse and her primary immunologic abnormality was skewing of circulating T-cells to the memory phenotype. A compelling explanation for the perplexing combination in OS of atopic/autoimmune and immunologic features has proven elusive. Homozygous RAG1-C2633T hypomorphic mutation may lead to significant residual immunity and a skewed memory phenotype. Our findings suggest that, in addition to host-genetic factors, environment, and/or pathogens, hypomorphic RAG mutations may differentially impact on V(D)J recombination activity and hence lead to a variable ability to sustain T and B cell lymphopoiesis. Importantly, this case emphasizes that such hypomorphic mutations may promote an attenuated phenotype, complicating the diagnosis of primary immunodeficiency (PID)
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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 Homeodomain Proteins
|2 NLM
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|a RAG-1 protein
|2 NLM
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|a 128559-51-3
|2 NLM
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| 700 |
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|a Hotte, Simon
|e verfasserin
|4 aut
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| 700 |
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|a Le Deist, Francoise
|e verfasserin
|4 aut
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| 700 |
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|a Hirschfeld, Aaron F
|e verfasserin
|4 aut
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| 700 |
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|a Mitchell, David
|e verfasserin
|4 aut
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| 700 |
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|a Nguyen, Van-Hung
|e verfasserin
|4 aut
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| 700 |
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|a Gagnon, Remi
|e verfasserin
|4 aut
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| 700 |
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|a Mazer, Bruce
|e verfasserin
|4 aut
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| 700 |
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|a Turvey, Stuart E
|e verfasserin
|4 aut
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| 700 |
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|a Jabado, Nada
|e verfasserin
|4 aut
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| 773 |
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|i Enthalten in
|t Clinical immunology (Orlando, Fla.)
|d 1999
|g 131(2009), 3 vom: 15. Juni, Seite 447-55
|w (DE-627)NLM098196855
|x 1521-7035
|7 nnas
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| 773 |
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|g volume:131
|g year:2009
|g number:3
|g day:15
|g month:06
|g pages:447-55
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|u http://dx.doi.org/10.1016/j.clim.2009.01.014
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