When to suspect inborn errors of immunity in Epstein-Barr virus-related lymphoproliferative disorders.
EBV lymphoproliferation
HSCT
Hemophagocyctic lymphohistiocytosis
Immune dysregulation
Inborn errors of immunity
Primary immunodeficiency
XLP
Journal
Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases
ISSN: 1469-0691
Titre abrégé: Clin Microbiol Infect
Pays: England
ID NLM: 9516420
Informations de publication
Date de publication:
Apr 2023
Apr 2023
Historique:
received:
22
07
2022
revised:
20
09
2022
accepted:
01
10
2022
pmc-release:
01
04
2024
medline:
4
4
2023
pubmed:
10
10
2022
entrez:
9
10
2022
Statut:
ppublish
Résumé
More than 95% of humans have been infected with Epstein-Barr virus (EBV) and develop anti-EBV IgG antibodies, conferring immunity. However, among specific populations, EBV may induce a range of B-cell lymphoproliferative disorders (LPDs). EBV may also contribute to T-cell and natural killer (NK)-cell lymphoproliferation. The immune system is essential to prevent infection and development of cancer. Inborn errors of immunity (IEIs) are a heterogenous group of more than 450 genetic disorders predisposing to severe and/or recurrent infection, autoimmunity, autoinflammation, or early-onset/severe neoplasia or lymphoproliferation. Monogenic disorders of T-cell and B-cell signalling are classic IEIs that predispose to EBV-associated LPDs. We aimed to outline the various clinical manifestations of EBV-associated LPDs and the underlying IEIs associated with such presentations and discuss the recommended management and therapeutic options pertaining to these disorders. We searched PubMed, Embase, and Web of Science Core Collection on 30 September 2021. Clinical studies, systematic reviews, narrative reviews, and case reports were identified through search strategy and cross reference from primary literature. Effective T-cell and NK-cell cytotoxicity towards EBV-infected B cells relies on intact MAGT1-dependent NKG2D pathways and signalling lymphocyte activation molecular-associated protein-dependent signalling lymphocyte activation molecular receptors. The interaction between CD27 and CD70 is also critical to drive the expansion of EBV-specific T cells. IEIs due to T-cell and B-cell signalling defects and/or impaired T-cell and NK-cell cytotoxicity predispose to EBV-related lymphoproliferation. This includes classic disorders such as X-linked lymphoproliferative disease 1 (due to SH2D1A mutations), X-linked lymphoproliferative disease 2 (XIAP), and other genetic diseases, such as ITK, MAGT1, CD27, CD70, CTPS1, RASGRP1, and CORO1A deficiencies. EBV-driven lymphoproliferation may manifest to a lesser degree in MST1/STK4, DOCK8, STIM1, CORO1A, IL21R, PIK3CD gain-of-function, and PI3KR1 deficiencies. Early screening for IEIs is indicated in cases of EBV-related lymphoproliferation because different forms of IEIs have specific prognostic and therapeutic implications.
Sections du résumé
BACKGROUND
BACKGROUND
More than 95% of humans have been infected with Epstein-Barr virus (EBV) and develop anti-EBV IgG antibodies, conferring immunity. However, among specific populations, EBV may induce a range of B-cell lymphoproliferative disorders (LPDs). EBV may also contribute to T-cell and natural killer (NK)-cell lymphoproliferation. The immune system is essential to prevent infection and development of cancer. Inborn errors of immunity (IEIs) are a heterogenous group of more than 450 genetic disorders predisposing to severe and/or recurrent infection, autoimmunity, autoinflammation, or early-onset/severe neoplasia or lymphoproliferation. Monogenic disorders of T-cell and B-cell signalling are classic IEIs that predispose to EBV-associated LPDs.
OBJECTIVES
OBJECTIVE
We aimed to outline the various clinical manifestations of EBV-associated LPDs and the underlying IEIs associated with such presentations and discuss the recommended management and therapeutic options pertaining to these disorders.
SOURCES
METHODS
We searched PubMed, Embase, and Web of Science Core Collection on 30 September 2021. Clinical studies, systematic reviews, narrative reviews, and case reports were identified through search strategy and cross reference from primary literature.
CONTENT
BACKGROUND
Effective T-cell and NK-cell cytotoxicity towards EBV-infected B cells relies on intact MAGT1-dependent NKG2D pathways and signalling lymphocyte activation molecular-associated protein-dependent signalling lymphocyte activation molecular receptors. The interaction between CD27 and CD70 is also critical to drive the expansion of EBV-specific T cells. IEIs due to T-cell and B-cell signalling defects and/or impaired T-cell and NK-cell cytotoxicity predispose to EBV-related lymphoproliferation. This includes classic disorders such as X-linked lymphoproliferative disease 1 (due to SH2D1A mutations), X-linked lymphoproliferative disease 2 (XIAP), and other genetic diseases, such as ITK, MAGT1, CD27, CD70, CTPS1, RASGRP1, and CORO1A deficiencies. EBV-driven lymphoproliferation may manifest to a lesser degree in MST1/STK4, DOCK8, STIM1, CORO1A, IL21R, PIK3CD gain-of-function, and PI3KR1 deficiencies.
IMPLICATIONS
CONCLUSIONS
Early screening for IEIs is indicated in cases of EBV-related lymphoproliferation because different forms of IEIs have specific prognostic and therapeutic implications.
Identifiants
pubmed: 36209991
pii: S1198-743X(22)00516-X
doi: 10.1016/j.cmi.2022.10.003
pmc: PMC10066820
mid: NIHMS1841797
pii:
doi:
Substances chimiques
STK4 protein, human
EC 2.7.1.11
Protein Serine-Threonine Kinases
EC 2.7.11.1
Intracellular Signaling Peptides and Proteins
0
DOCK8 protein, human
0
Guanine Nucleotide Exchange Factors
0
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
457-462Subventions
Organisme : Intramural NIH HHS
ID : Z99 AI999999
Pays : United States
Informations de copyright
Published by Elsevier Ltd.
Références
N Engl J Med. 2020 May 7;382(19):1811-1822
pubmed: 32374962
J Infect Dis. 2018 Jul 24;218(5):825-834
pubmed: 29684201
J Allergy Clin Immunol. 2019 Aug;144(2):574-583.e5
pubmed: 30872117
J Exp Med. 1998 May 18;187(10):1721-7
pubmed: 9584150
Blood. 2009 Nov 5;114(19):4002-8
pubmed: 19724053
Annu Rev Immunol. 2015;33:787-821
pubmed: 25706097
Cancer. 1979 Jan;43(1):360-73
pubmed: 761171
J Exp Med. 2017 Jan;214(1):91-106
pubmed: 28011864
Curr Opin Immunol. 2017 Dec;49:20-26
pubmed: 28866302
J Allergy Clin Immunol. 2012 Mar;129(3):787-793.e6
pubmed: 22197273
Blood. 2013 Feb 7;121(6):877-83
pubmed: 23131490
Open Forum Infect Dis. 2022 Aug 04;9(8):ofac403
pubmed: 35983265
Science. 2013 Jul 12;341(6142):186-91
pubmed: 23846901
EMBO Mol Med. 2018 Feb;10(2):188-199
pubmed: 29282224
Pharmacol Ther. 2015 Nov;155:1-10
pubmed: 26213107
Am J Surg Pathol. 2015 Feb;39(2):141-56
pubmed: 25321327
Blood. 2015 Aug 13;126(7):863-72
pubmed: 25999451
Blood. 2013 Jul 18;122(3):328-40
pubmed: 23649469
Biol Blood Marrow Transplant. 2014 Oct;20(10):1641-5
pubmed: 24923536
Blood. 2011 Feb 3;117(5):1522-9
pubmed: 21119115
Nat Rev Immunol. 2009 Apr;9(4):271-85
pubmed: 19319144
Curr Opin Immunol. 2003 Jun;15(3):277-85
pubmed: 12787752
Clin Immunol. 2017 Oct;183:142-144
pubmed: 28822832
Blood. 2012 Aug 30;120(9):1957-9
pubmed: 22936741
Blood. 2005 Jun 1;105(11):4383-9
pubmed: 15677558
Acta Haematol. 2015;134(3):155-60
pubmed: 25968626
J Exp Med. 2017 Jan;214(1):73-89
pubmed: 28011863
Immunol Rev. 2019 Sep;291(1):174-189
pubmed: 31402499
Pediatr Blood Cancer. 2015 Dec;62(12):2247-8
pubmed: 26174447
Clin Infect Dis. 1996 Jan;22(1):22-7
pubmed: 8824960
J Allergy Clin Immunol. 2019 Jun;143(6):2215-2226.e7
pubmed: 30578871
J Allergy Clin Immunol. 2016 May;137(5):1498-1505.e1
pubmed: 26920464
Nat Immunol. 2016 Dec;17(12):1352-1360
pubmed: 27776107
J Allergy Clin Immunol. 2015 Sep;136(3):703-712.e10
pubmed: 25843314
J Clin Immunol. 2014 Oct;34(7):772-9
pubmed: 25085526
Curr Opin Allergy Clin Immunol. 2007 Dec;7(6):510-4
pubmed: 17989527
J Exp Med. 1998 May 4;187(9):1395-402
pubmed: 9565632
J Allergy Clin Immunol. 2016 Dec;138(6):1722-1725.e6
pubmed: 27543071
Blood. 2014 Jul 24;124(4):655-7
pubmed: 25061172
Nature. 2014 Jun 12;510(7504):288-92
pubmed: 24870241
Br J Haematol. 2002 Dec;119(3):585-95
pubmed: 12437631
J Exp Med. 2017 Feb;214(2):269-283
pubmed: 28108590
Front Immunol. 2018 Jan 08;8:1902
pubmed: 29358936
Proc Natl Acad Sci U S A. 1998 Nov 10;95(23):13765-70
pubmed: 9811875
Sci Transl Med. 2016 Jan 13;8(321):321ra7
pubmed: 26764158
J Korean Med Sci. 2008 Apr;23(2):185-92
pubmed: 18436998
Curr Opin Virol. 2017 Feb;22:77-88
pubmed: 28086150
J Exp Med. 2017 Jun 5;214(6):1827-1841
pubmed: 28468758
Annu Rev Immunol. 2007;25:587-617
pubmed: 17378764
Nature. 2011 Jul 27;475(7357):471-6
pubmed: 21796205
J Exp Med. 2019 Aug 5;216(8):1828-1842
pubmed: 31196981
Nature. 1998 Oct 1;395(6701):462-9
pubmed: 9774102
Annu Rev Med. 2012;63:233-46
pubmed: 22248322
J Clin Immunol. 2016 Nov;36(8):750-753
pubmed: 27638562
J Clin Immunol. 2022 Oct;42(7):1473-1507
pubmed: 35748970
Curr Top Microbiol Immunol. 2015;390(Pt 1):241-65
pubmed: 26424649
Front Immunol. 2017 Dec 22;8:1867
pubmed: 29375552
Blood. 2017 Dec 21;130(25):2728-2738
pubmed: 28935695
J Clin Immunol. 2015 May;35(4):331-8
pubmed: 25737324
EMBO Mol Med. 2013 Aug;5(8):1278-95
pubmed: 23818254
Nature. 1997 Jul 17;388(6639):300-4
pubmed: 9230442
Blood. 2015 Nov 5;126(19):2186-92
pubmed: 26289641
J Clin Invest. 2009 May;119(5):1350-8
pubmed: 19425169
J Biol Chem. 2019 Sep 13;294(37):13638-13656
pubmed: 31337704
Nat Immunol. 2000 Nov;1(5):433-40
pubmed: 11062504
Front Immunol. 2018 Jun 04;9:1103
pubmed: 29942301
J Korean Med Sci. 2008 Jun;23(3):439-44
pubmed: 18583880
Annu Rev Immunol. 2005;23:23-68
pubmed: 15771565
Expert Rev Clin Pharmacol. 2021 May;14(5):527-534
pubmed: 33686916
J Pathol Transl Med. 2017 Jul;51(4):352-358
pubmed: 28592786