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NLM363904247 |
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DE-627 |
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20240410232244.0 |
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231226s2023 xx |||||o 00| ||eng c |
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|a 10.1016/j.clim.2023.109813
|2 doi
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|a pubmed24n1371.xml
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|a (DE-627)NLM363904247
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|a (NLM)37898412
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|a (PII)S1521-6616(23)00576-4
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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 Mansour, Rana
|e verfasserin
|4 aut
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| 245 |
1 |
2 |
|a A novel homozygous mutation in RASGRP1 that predisposes to immune dysregulation and immunodeficiency associated with uncontrolled Epstein-Barr virus-induced B cell proliferation
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|c 2023
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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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|a Date Completed 03.01.2024
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|a Date Revised 10.04.2024
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|a published: Print-Electronic
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|a Citation Status MEDLINE
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|a Copyright © 2023 Elsevier Inc. All rights reserved.
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|a BACKGROUND: RASGRP1-deficiency results in an immune dysregulation and immunodeficiency that manifest as autoimmunity, lymphoproliferation, lymphopenia, defective T cell function, and increased incidence of Epstein-Bar Virus infections and lymphomas
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|a OBJECTIVE: To investigate the mechanism of autoimmune hemolytic anemia and infections in a male patient of consanguineous parents from Lebanon
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| 520 |
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|a METHODS: Genetic diagnosis was obtained using next generation and Sanger sequencing. Protein expression and phosphorylation were determined by immunoblotting. T and B cell development and function were studied by flow cytometry. Cytokine and immunoglobulin secretions were quantified by enzyme-linked immunosorbent assay
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|a RESULTS: The patient suffered from severe lymphopenia especially affecting the T cell compartment. Genetic analysis revealed a homozygous insertion of adenine at position 1396_1397 in RASGRP1 that abolished protein expression and downstream Ras signaling. T cells from the patient showed severe activation defects resulting in uncontrolled Epstein-Bar Virus-induced B cell proliferation. B cells from the patient were normal
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|a CONCLUSION: This report expands the spectrum of mutations in patients with RasGRP1 deficiency, and provides evidence for the important role RasGRP1 plays in the ability of T cells to control Epstein-Bar Virus-induced B cell proliferation
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|a CLINICAL IMPLICATIONS: Following diagnosis, the patient will be maintained on oral valganciclovir and monitored regularly for Epstein-Bar Virus infections to avoid the development of Epstein-Bar Virus- induced B cell lymphoma. He is also candidate for hematopoietic stem cell transplantation
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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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|a Epstein-Bar virus infections
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|a Immune dysregulation
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| 650 |
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|a Immunodeficiency
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4 |
|a RASGRP1 deficiency
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4 |
|a T cell function
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| 650 |
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7 |
|a DNA-Binding Proteins
|2 NLM
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| 650 |
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|a Guanine Nucleotide Exchange Factors
|2 NLM
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| 650 |
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7 |
|a RASGRP1 protein, human
|2 NLM
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| 700 |
1 |
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|a El-Orfali, Youmna
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Saidu, Adam
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Al-Kalamouni, Habib
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Mardirossian, Hagop
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Hanna-Wakim, Rima
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Abboud, Miguel
|e verfasserin
|4 aut
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| 700 |
1 |
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|a Massaad, Michel J
|e verfasserin
|4 aut
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| 773 |
0 |
8 |
|i Enthalten in
|t Clinical immunology (Orlando, Fla.)
|d 1999
|g 257(2023) vom: 22. Dez., Seite 109813
|w (DE-627)NLM098196855
|x 1521-7035
|7 nnns
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| 773 |
1 |
8 |
|g volume:257
|g year:2023
|g day:22
|g month:12
|g pages:109813
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| 856 |
4 |
0 |
|u http://dx.doi.org/10.1016/j.clim.2023.109813
|3 Volltext
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|a GBV_USEFLAG_A
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|a SYSFLAG_A
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|a GBV_NLM
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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 257
|j 2023
|b 22
|c 12
|h 109813
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