|
|
|
|
LEADER |
01000naa a22002652 4500 |
001 |
NLM279924208 |
003 |
DE-627 |
005 |
20231225024148.0 |
007 |
cr uuu---uuuuu |
008 |
231225s2018 xx |||||o 00| ||eng c |
024 |
7 |
|
|a 10.1016/j.clim.2017.12.009
|2 doi
|
028 |
5 |
2 |
|a pubmed24n0933.xml
|
035 |
|
|
|a (DE-627)NLM279924208
|
035 |
|
|
|a (NLM)29330115
|
035 |
|
|
|a (PII)S1521-6616(17)30565-X
|
040 |
|
|
|a DE-627
|b ger
|c DE-627
|e rakwb
|
041 |
|
|
|a eng
|
100 |
1 |
|
|a Besnard, Caroline
|e verfasserin
|4 aut
|
245 |
1 |
0 |
|a Pediatric-onset Evans syndrome
|b Heterogeneous presentation and high frequency of monogenic disorders including LRBA and CTLA4 mutations
|
264 |
|
1 |
|c 2018
|
336 |
|
|
|a Text
|b txt
|2 rdacontent
|
337 |
|
|
|a ƒaComputermedien
|b c
|2 rdamedia
|
338 |
|
|
|a ƒa Online-Ressource
|b cr
|2 rdacarrier
|
500 |
|
|
|a Date Completed 22.04.2019
|
500 |
|
|
|a Date Revised 30.03.2022
|
500 |
|
|
|a published: Print-Electronic
|
500 |
|
|
|a Citation Status MEDLINE
|
520 |
|
|
|a Copyright © 2018 Elsevier Inc. All rights reserved.
|
520 |
|
|
|a Evans syndrome (ES) is defined by the combination of autoimmune hemolytic anemia and immune thrombocytopenia. Clinical presentation includes manifestations of immune dysregulation, found in primary immune deficiencies, autoimmune lymphoproliferative syndrome with FAS (ALPS-FAS), Cytotoxic T Lymphocyte Antigen-4 (CTLA-4) and Lipopolysaccharide-Responsive vesicle trafficking Beige-like and Anchor protein (LRBA) defects. We report the clinical history and genetic results of 18 children with ES after excluding ALPS-FAS. Thirteen had organomegaly, five lymphocytic infiltration of non-lymphoid organs, nine hypogammaglobulinemia and fifteen anomalies in lymphocyte phenotyping. Seven patients had genetic defects: three CTLA4 mutations (c.151C>T; c.109+1092_568-512del; c.110-2A>G) identified by Sanger sequencing and four revealed by Next Generation Sequencing: LRBA (c.2450+1C>T), STAT3 gain-of-function (c.2147C>T; c.2144C>T) and KRAS (c.37G>T). No feature emerged to distinguish patients with or without genetic diagnosis. Our data on pediatric-onset ES should prompt physicians to perform extensive screening for mutations in the growing pool of genes involved in primary immune deficiencies with autoimmunity
|
650 |
|
4 |
|a Journal Article
|
650 |
|
4 |
|a Research Support, Non-U.S. Gov't
|
650 |
|
4 |
|a Autoimmune cytopenias
|
650 |
|
4 |
|a Extensive genetic screening
|
650 |
|
4 |
|a Immune checkpoint deficiencies
|
650 |
|
4 |
|a LRBA and CTLA-4 deficiencies
|
650 |
|
7 |
|a Adaptor Proteins, Signal Transducing
|2 NLM
|
650 |
|
7 |
|a CTLA-4 Antigen
|2 NLM
|
650 |
|
7 |
|a CTLA4 protein, human
|2 NLM
|
650 |
|
7 |
|a LRBA protein, human
|2 NLM
|
650 |
|
7 |
|a EC 2.7.10.-
|2 NLM
|
700 |
1 |
|
|a Levy, Eva
|e verfasserin
|4 aut
|
700 |
1 |
|
|a Aladjidi, Nathalie
|e verfasserin
|4 aut
|
700 |
1 |
|
|a Stolzenberg, Marie-Claude
|e verfasserin
|4 aut
|
700 |
1 |
|
|a Magerus-Chatinet, Aude
|e verfasserin
|4 aut
|
700 |
1 |
|
|a Alibeu, Olivier
|e verfasserin
|4 aut
|
700 |
1 |
|
|a Nitschke, Patrick
|e verfasserin
|4 aut
|
700 |
1 |
|
|a Blanche, Stéphane
|e verfasserin
|4 aut
|
700 |
1 |
|
|a Hermine, Olivier
|e verfasserin
|4 aut
|
700 |
1 |
|
|a Jeziorski, Eric
|e verfasserin
|4 aut
|
700 |
1 |
|
|a Landman-Parker, Judith
|e verfasserin
|4 aut
|
700 |
1 |
|
|a Leverger, Guy
|e verfasserin
|4 aut
|
700 |
1 |
|
|a Mahlaoui, Nizar
|e verfasserin
|4 aut
|
700 |
1 |
|
|a Michel, Gérard
|e verfasserin
|4 aut
|
700 |
1 |
|
|a Pellier, Isabelle
|e verfasserin
|4 aut
|
700 |
1 |
|
|a Suarez, Felipe
|e verfasserin
|4 aut
|
700 |
1 |
|
|a Thuret, Isabelle
|e verfasserin
|4 aut
|
700 |
1 |
|
|a de Saint-Basile, Geneviève
|e verfasserin
|4 aut
|
700 |
1 |
|
|a Picard, Capucine
|e verfasserin
|4 aut
|
700 |
1 |
|
|a Fischer, Alain
|e verfasserin
|4 aut
|
700 |
1 |
|
|a Neven, Bénédicte
|e verfasserin
|4 aut
|
700 |
1 |
|
|a Rieux-Laucat, Frédéric
|e verfasserin
|4 aut
|
700 |
1 |
|
|a Quartier, Pierre
|e verfasserin
|4 aut
|
700 |
0 |
|
|a Members of the French reference center for pediatric autoimmune cytopenias (CEREVANCE)
|e verfasserin
|4 aut
|
773 |
0 |
8 |
|i Enthalten in
|t Clinical immunology (Orlando, Fla.)
|d 1999
|g 188(2018) vom: 15. März, Seite 52-57
|w (DE-627)NLM098196855
|x 1521-7035
|7 nnns
|
773 |
1 |
8 |
|g volume:188
|g year:2018
|g day:15
|g month:03
|g pages:52-57
|
856 |
4 |
0 |
|u http://dx.doi.org/10.1016/j.clim.2017.12.009
|3 Volltext
|
912 |
|
|
|a GBV_USEFLAG_A
|
912 |
|
|
|a SYSFLAG_A
|
912 |
|
|
|a GBV_NLM
|
912 |
|
|
|a GBV_ILN_11
|
912 |
|
|
|a GBV_ILN_24
|
912 |
|
|
|a GBV_ILN_350
|
951 |
|
|
|a AR
|
952 |
|
|
|d 188
|j 2018
|b 15
|c 03
|h 52-57
|