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231224s2014 xx |||||o 00| ||eng c |
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|a 10.1016/j.clim.2014.07.003
|2 doi
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|a pubmed25n0801.xml
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|a (DE-627)NLM240448448
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|a (NLM)25064839
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|a (PII)S1521-6616(14)00170-3
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|a DE-627
|b ger
|c DE-627
|e rakwb
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| 041 |
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|a eng
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| 100 |
1 |
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|a Borte, Stephan
|e verfasserin
|4 aut
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| 245 |
1 |
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|a Novel NLRP12 mutations associated with intestinal amyloidosis in a patient diagnosed with common variable immunodeficiency
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|c 2014
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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 04.11.2014
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|a Date Revised 13.09.2014
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|a published: Print-Electronic
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|a Citation Status MEDLINE
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|a Copyright © 2014 Elsevier Inc. All rights reserved.
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|a Heterozygous mutations in the NLRP12 gene have been found in patients with systemic auto-inflammatory diseases. However, the NLRP12-associated periodic fever syndromes show a wide clinical spectrum, including patients without classical diagnostic symptoms. Here, we report on a 20-year-old female patient diagnosed with common variable immunodeficiency (CVID), who developed intestinal amyloidosis and carried novel compound heterozygous mutations in NLRP12, identified by whole exome and transcriptome sequencing. CVID is a primary immunodeficiency characterized by low serum immunoglobulins, recurrent bacterial infections and development of malignancy, but it also presents with a magnitude of autoimmune features. Because of the unspecific heterogeneous clinical features of the disease, a delay in diagnosis is common. Secondary, inflammatory (AA type) amyloidosis has infrequently been observed in CVID patients. Based on our case observation and a critical review of the literature, we suggest that NLRP12 mutations might account for a small fraction of CVID patients with severe auto-inflammatory complications
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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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4 |
|a Amyloidosis
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| 650 |
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4 |
|a CVID
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| 650 |
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4 |
|a Cold-induced autoimmune disease
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| 650 |
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4 |
|a Common variable immunodeficiency
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| 650 |
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4 |
|a NLRP12
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| 650 |
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4 |
|a Periodic fever syndromes
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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 NLRP12 protein, human
|2 NLM
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| 650 |
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|a RNA
|2 NLM
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| 650 |
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|a 63231-63-0
|2 NLM
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| 700 |
1 |
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|a Celiksoy, Mehmet Halil
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Menzel, Volker
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Ozkaya, Ozan
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Ozen, Fatma Zeynep
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Hammarström, Lennart
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Yildiran, Alisan
|e verfasserin
|4 aut
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| 773 |
0 |
8 |
|i Enthalten in
|t Clinical immunology (Orlando, Fla.)
|d 1999
|g 154(2014), 2 vom: 29. Okt., Seite 105-11
|w (DE-627)NLM098196855
|x 1521-7035
|7 nnas
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| 773 |
1 |
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|g volume:154
|g year:2014
|g number:2
|g day:29
|g month:10
|g pages:105-11
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| 856 |
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|u http://dx.doi.org/10.1016/j.clim.2014.07.003
|3 Volltext
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|a GBV_USEFLAG_A
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|a SYSFLAG_A
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|a AR
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|d 154
|j 2014
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|h 105-11
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