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231224s2013 xx |||||o 00| ||eng c |
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|a 10.1016/j.clim.2012.11.007
|2 doi
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|a pubmed24n0746.xml
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|a (DE-627)NLM223828769
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|a (NLM)23280491
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|a (PII)S1521-6616(12)00285-9
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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 |
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|a Recher, Mike
|e verfasserin
|4 aut
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|a Intronic SH2D1A mutation with impaired SAP expression and agammaglobulinemia
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|c 2013
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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 01.04.2013
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|a Date Revised 21.10.2021
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|a published: Print-Electronic
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|a Citation Status MEDLINE
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|a Copyright © 2012 Elsevier Inc. All rights reserved.
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|a X-linked lymphoproliferative (XLP) disease is a primary immunodeficiency syndrome associated with the inability to control Epstein-Barr virus (EBV), lymphoma, and hypogammaglobulinemia. XLP is caused by mutations in the SH2D1A gene, which encodes the SLAM-associated protein (SAP), or in the BIRC4 gene, which encodes the X-linked inhibitor of apoptosis protein (XIAP). Here we report a patient with recurrent respiratory tract infections and early onset agammaglobulinemia who carried a unique disease-causing intronic loss-of-function mutation in SH2D1A. The intronic mutation affected SH2D1A gene transcription but not mRNA splicing, and led to markedly reduced level of SAP protein. Despite undetectable serum immunoglobulins, the patient's B cells replicated and differentiated into antibody producing cells normally in vitro
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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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|a Research Support, Non-U.S. Gov't
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| 650 |
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|a Immunoglobulins, Intravenous
|2 NLM
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| 650 |
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|a Intracellular Signaling Peptides and Proteins
|2 NLM
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| 650 |
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|a SH2D1A protein, human
|2 NLM
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| 650 |
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|a Signaling Lymphocytic Activation Molecule Associated Protein
|2 NLM
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|a Fried, Ari J
|e verfasserin
|4 aut
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|a Massaad, Michel J
|e verfasserin
|4 aut
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|a Kim, Hye Young
|e verfasserin
|4 aut
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|a Rizzini, Michela
|e verfasserin
|4 aut
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|a Frugoni, Francesco
|e verfasserin
|4 aut
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| 700 |
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|a Walter, Jolan E
|e verfasserin
|4 aut
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| 700 |
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|a Mathew, Divij
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Eibel, Hermann
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Hess, Christoph
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Giliani, Silvia
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Umetsu, Dale T
|e verfasserin
|4 aut
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| 700 |
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|a Notarangelo, Luigi D
|e verfasserin
|4 aut
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| 700 |
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|a Geha, Raif S
|e verfasserin
|4 aut
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| 773 |
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|i Enthalten in
|t Clinical immunology (Orlando, Fla.)
|d 1999
|g 146(2013), 2 vom: 15. Feb., Seite 84-9
|w (DE-627)NLM098196855
|x 1521-7035
|7 nnns
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| 773 |
1 |
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|g volume:146
|g year:2013
|g number:2
|g day:15
|g month:02
|g pages:84-9
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| 856 |
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|u http://dx.doi.org/10.1016/j.clim.2012.11.007
|3 Volltext
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