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231225s2018 xx |||||o 00| ||eng c |
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|a 10.1016/j.clim.2018.07.015
|2 doi
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|a pubmed24n0956.xml
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|a (DE-627)NLM287037649
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|a (NLM)30063981
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|a (PII)S1521-6616(18)30370-X
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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 Dieli-Crimi, Romina
|e verfasserin
|4 aut
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| 245 |
1 |
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|a Th1-skewed profile and excessive production of proinflammatory cytokines in a NFKB1-deficient patient with CVID and severe gastrointestinal manifestations
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|c 2018
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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 27.08.2019
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| 500 |
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|a Date Revised 27.08.2019
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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 © 2018 Elsevier Inc. All rights reserved.
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|a Monoallelic loss-of-function mutations in NFKB1 were recently recognized as the most common monogenic cause of common variable immunodeficiency (CVID). The prototypic clinical phenotype of NFKB1-deficient patients includes common CVID features, such as hypogammaglobulinaemia and sinopulmonary infections, plus other highly variable individual manifestations. Here, we describe a patient with a profound CVID phenotype and severe gastrointestinal manifestations, including chronic and recurrent diarrhoea. Using an NGS customized panel of 323 genes related to primary immunodeficiencies, we identified a novel monoallelic loss-of-function mutation in NFKB1 leading to a truncated protein (c.1149delT/p.Gly384Glu ∗ 48). Interestingly, we also found a rare variant in NOD2 previously associated with Crohn's disease (p.His352Arg). Our patient had hypogammaglobulinaemia with a small number of B cells, most of which were naïve. The most noteworthy findings included marked skewing towards a Th1 phenotype in peripheral blood T cells and excessive production of proinflammatory cytokines (IL-1β, TNFα). The patient's 6-year-old daughter, a carrier of the NFKB1 mutation, is clinically asymptomatic, but has started to show cellular and molecular changes. This case of NFKB1 deficiency appears to be a combination of immunodeficiency and a hyperinflammatory state. The current situation of the patient's daughter provides a glimpse of the preclinical phase of the condition
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| 650 |
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4 |
|a Case Reports
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| 650 |
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4 |
|a Journal Article
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| 650 |
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4 |
|a Research Support, Non-U.S. Gov't
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| 650 |
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4 |
|a Autoinflammation
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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 Enteropathy
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4 |
|a NF-κB pathway
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| 650 |
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4 |
|a NFKB1
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| 650 |
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4 |
|a NOD2
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| 650 |
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4 |
|a Next Generation Sequencing
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| 650 |
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4 |
|a Primary Immunodeficiency
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| 650 |
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4 |
|a Th1 cells
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| 650 |
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7 |
|a Cytokines
|2 NLM
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| 650 |
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7 |
|a Inflammation Mediators
|2 NLM
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| 650 |
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7 |
|a NF-kappa B
|2 NLM
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| 650 |
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7 |
|a NOD2 protein, human
|2 NLM
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| 650 |
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7 |
|a Nod2 Signaling Adaptor Protein
|2 NLM
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| 700 |
1 |
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|a Martínez-Gallo, Mónica
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Franco-Jarava, Clara
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Antolin, Maria
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Blasco, Laura
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Paramonov, Ida
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Semidey, Maria E
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Álvarez Fernández, Antoni
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Molero, Xavier
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Velásquez, Julio
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Martín-Nalda, Andrea
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Pujol-Borrell, Ricardo
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Colobran, Roger
|e verfasserin
|4 aut
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| 773 |
0 |
8 |
|i Enthalten in
|t Clinical immunology (Orlando, Fla.)
|d 1999
|g 195(2018) vom: 15. Okt., Seite 49-58
|w (DE-627)NLM098196855
|x 1521-7035
|7 nnns
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| 773 |
1 |
8 |
|g volume:195
|g year:2018
|g day:15
|g month:10
|g pages:49-58
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| 856 |
4 |
0 |
|u http://dx.doi.org/10.1016/j.clim.2018.07.015
|3 Volltext
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|a GBV_ILN_11
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|a GBV_ILN_24
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| 912 |
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|a GBV_ILN_350
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| 951 |
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|a AR
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| 952 |
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|d 195
|j 2018
|b 15
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|h 49-58
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