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NLM297146386 |
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DE-627 |
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20231225091348.0 |
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cr uuu---uuuuu |
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231225s2019 xx |||||o 00| ||eng c |
| 024 |
7 |
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|a 10.1016/j.clim.2019.05.007
|2 doi
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5 |
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|a pubmed24n0990.xml
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|a (DE-627)NLM297146386
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|a (NLM)31096038
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|a (PII)S1521-6616(18)30746-0
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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 Yazdani, Reza
|e verfasserin
|4 aut
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| 245 |
1 |
0 |
|a Candidiasis associated with very early onset inflammatory bowel disease
|b First IL10RB deficient case from the National Iranian Registry and review of the literature
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|c 2019
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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 20.04.2020
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|a Date Revised 20.04.2020
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|a published: Print-Electronic
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|a Citation Status MEDLINE
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| 520 |
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|a Copyright © 2019 Elsevier Inc. All rights reserved.
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|a Defects in interleukin-10 (IL10) and interleukin-10 receptors (IL10R) are closely related to very early onset (infantile) inflammatory bowel disease (VEO-IBD). In the present study, we report a novel homozygous null mutation within interleukin-10 receptor B (IL10RB) gene in a child presenting with severe VEO-IBD. In accordance with previous reports, our patient manifested with chronic diarrhea, failure to thrive, intermittent fever and multiple anal ulcers associated with Candidiasis. Homozygous null mutation within IL10RB gene (c.92C > T, p.S31P) affecting the extracellular domain of protein was discovered in this patient. In conclusion, the diagnosis of IL-10R gene mutations should always be considered as a possible cause of refractory diarrhea and failure to thrive. Mutation analysis could help detect the genetic defects associated with these clinical manifestations and to determine the most appropriate treatment option for patients affected by this disease
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|a Case Reports
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|a Journal Article
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|a Review
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|a Children
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| 650 |
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|a Genetic defect
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| 650 |
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4 |
|a IL-10
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| 650 |
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|a Immunodeficiency
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| 650 |
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4 |
|a Inflammatory bowel disease
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| 650 |
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4 |
|a Interleukin-10 receptor
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| 650 |
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7 |
|a IL10RB protein, human
|2 NLM
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| 650 |
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7 |
|a Interleukin-10 Receptor beta Subunit
|2 NLM
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| 700 |
1 |
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|a Moazzami, Bobak
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Madani, Seyedeh Panid
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Behniafard, Nasrin
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Azizi, Gholamreza
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Aflatoonian, Majid
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Abolhassani, Hassan
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Aghamohammadi, Asghar
|e verfasserin
|4 aut
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| 773 |
0 |
8 |
|i Enthalten in
|t Clinical immunology (Orlando, Fla.)
|d 1999
|g 205(2019) vom: 10. Aug., Seite 35-42
|w (DE-627)NLM098196855
|x 1521-7035
|7 nnns
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| 773 |
1 |
8 |
|g volume:205
|g year:2019
|g day:10
|g month:08
|g pages:35-42
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| 856 |
4 |
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|u http://dx.doi.org/10.1016/j.clim.2019.05.007
|3 Volltext
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