• Je něco špatně v tomto záznamu ?

Defective peripheral B cell selection in common variable immune deficiency patients with autoimmune manifestations

V. Friman, I. Quinti, AN. Davydov, M. Shugay, C. Farroni, E. Engström, S. Pour Akaber, S. Barresi, A. Mohamed, F. Pulvirenti, C. Milito, G. Granata, E. Giorda, S. Ahlström, J. Karlsson, E. Marasco, V. Marcellini, C. Bocci, S. Cascioli, M....

. 2023 ; 42 (5) : 112446. [pub] 20230427

Jazyk angličtina Země Spojené státy americké

Typ dokumentu časopisecké články, práce podpořená grantem

Perzistentní odkaz   https://www.medvik.cz/link/bmc23011356

Common variable immune deficiency (CVID) is a heterogeneous disorder characterized by recurrent infections, low levels of serum immunoglobulins, and impaired vaccine responses. Autoimmune manifestations are common, but B cell central and peripheral selection mechanisms in CVID are incompletely understood. Here, we find that receptor editing, a measure of central tolerance, is increased in transitional B cells from CVID patients and that these cells have a higher immunoglobulin κ:λ ratio in CVID patients with autoimmune manifestations than in those with infection only. Contrariwise, the selection pressure in the germinal center on CD27bright memory B cells is decreased in CVID patients with autoimmune manifestations. Finally, functionally, T cell-dependent activation showed that naive B cells in CVID patients are badly equipped for activation and induction of mismatch repair genes. We conclude that central tolerance is functional whereas peripheral selection is defective in CVID patients with autoimmune manifestations, which could underpin the development of autoimmunity.

B Cell Pathophysiology Unit Immunology Research Area Ospedale Pediatrico Bambino Gesù IRCCS Rome Italy

Center of Life Sciences Skolkovo Institute of Science and Technology Moscow Russia

Central European Institute of Technology Brno Czech Republic

Centre for Primary Immune Deficiency AUO Policlinico Umberto 1 Rome Italy

Clinical and Research Department for Infectious Diseases National Institute for Infectious Diseases L Spallanzani 00149 Rome Italy

Department of Clinical Immunology and Transfusion Medicine Region Västra Götaland Sahlgrenska University Hospital Gothenburg Sweden

Department of Infectious Diseases Institute of Biomedicine The Sahlgrenska Academy University of Gothenburg Gothenburg Sweden

Department of Microbiology and Immunology Institute of Biomedicine Sahlgrenska Academy University of Gothenburg Gothenburg Sweden

Department of Molecular Medicine Sapienza University of Rome Rome Italy

Department of Rheumatology and Inflammation Research The Sahlgrenska Academy University of Gothenburg Gothenburg Sweden

Division of Rheumatology Ospedale Pediatrico Bambino Gesù IRCCS Rome Italy

Faculty of Health Sciences A 1 Virtanen Institute for Molecular Sciences University of Eastern Finland Kuopio Finland

Genetics and Rare Diseases Research Division Ospedale Pediatrico Bambino Gesù IRCCS Rome Italy

Institute for Research in Biomedicine Bellinzona Switzerland

Institute of Pathophysiology and Allergy Research Centre for Pathophysiology Infectiology and Immunology Medical University of Vienna Vienna Austria

Institute of Translational Medicine Pirogov Russian National Research Medical University Moscow Russia

Research Laboratories Ospedale Pediatrico Bambino Gesù IRCCS Rome Italy

School of Bioscience University of Skövde Skövde Sweden

Shemyakin and Ovchinnikov Institute of Bioorganic Chemistry Moscow Russia

Translational Research Unit National Institute for Infectious Diseases Lazzaro Spallanzani Rome Italy

Unit of Diagnostic Immunology Department of Laboratories Ospedale Pediatrico Bambino Gesù IRCCS Rome Italy

Citace poskytuje Crossref.org

000      
00000naa a2200000 a 4500
001      
bmc23011356
003      
CZ-PrNML
005      
20230801133007.0
007      
ta
008      
230718s2023 xxu f 000 0|eng||
009      
AR
024    7_
$a 10.1016/j.celrep.2023.112446 $2 doi
035    __
$a (PubMed)37119135
040    __
$a ABA008 $b cze $d ABA008 $e AACR2
041    0_
$a eng
044    __
$a xxu
100    1_
$a Friman, Vanda $u Department of Infectious Diseases, Institute of Biomedicine, The Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
245    10
$a Defective peripheral B cell selection in common variable immune deficiency patients with autoimmune manifestations / $c V. Friman, I. Quinti, AN. Davydov, M. Shugay, C. Farroni, E. Engström, S. Pour Akaber, S. Barresi, A. Mohamed, F. Pulvirenti, C. Milito, G. Granata, E. Giorda, S. Ahlström, J. Karlsson, E. Marasco, V. Marcellini, C. Bocci, S. Cascioli, M. Scarsella, G. Phad, A. Tilevik, M. Tartaglia, M. Bemark, DM. Chudakov, R. Carsetti, O. Grimsholm
520    9_
$a Common variable immune deficiency (CVID) is a heterogeneous disorder characterized by recurrent infections, low levels of serum immunoglobulins, and impaired vaccine responses. Autoimmune manifestations are common, but B cell central and peripheral selection mechanisms in CVID are incompletely understood. Here, we find that receptor editing, a measure of central tolerance, is increased in transitional B cells from CVID patients and that these cells have a higher immunoglobulin κ:λ ratio in CVID patients with autoimmune manifestations than in those with infection only. Contrariwise, the selection pressure in the germinal center on CD27bright memory B cells is decreased in CVID patients with autoimmune manifestations. Finally, functionally, T cell-dependent activation showed that naive B cells in CVID patients are badly equipped for activation and induction of mismatch repair genes. We conclude that central tolerance is functional whereas peripheral selection is defective in CVID patients with autoimmune manifestations, which could underpin the development of autoimmunity.
650    _2
$a lidé $7 D006801
650    12
$a běžná variabilní imunodeficience $x genetika $7 D017074
650    _2
$a B-lymfocyty $7 D001402
650    _2
$a zárodečné centrum lymfatické uzliny $7 D018858
650    _2
$a prekurzorové B-lymfoidní buňky $7 D054448
650    _2
$a autoimunita $7 D015551
655    _2
$a časopisecké články $7 D016428
655    _2
$a práce podpořená grantem $7 D013485
700    1_
$a Quinti, Isabella $u Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy
700    1_
$a Davydov, Alexey N $u Central European Institute of Technology, Brno, Czech Republic
700    1_
$a Shugay, Mikhail $u Center of Life Sciences, Skolkovo Institute of Science and Technology, Moscow, Russia; Shemyakin and Ovchinnikov Institute of Bioorganic Chemistry, Moscow, Russia; Institute of Translational Medicine, Pirogov Russian National Research Medical University, Moscow, Russia
700    1_
$a Farroni, Chiara $u Translational Research Unit, National Institute for Infectious Diseases Lazzaro Spallanzani (IRCCS), Rome, Italy; B Cell Pathophysiology Unit, Immunology Research Area, Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy
700    1_
$a Engström, Erik $u Department of Rheumatology and Inflammation Research, The Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
700    1_
$a Pour Akaber, Shirin $u Institute of Pathophysiology and Allergy Research, Centre for Pathophysiology, Infectiology, and Immunology, Medical University of Vienna, Vienna, Austria
700    1_
$a Barresi, Sabina $u Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy
700    1_
$a Mohamed, Ahmed $u Department of Rheumatology and Inflammation Research, The Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden; Faculty of Health Sciences, A.I. Virtanen Institute for Molecular Sciences, University of Eastern Finland, Kuopio, Finland
700    1_
$a Pulvirenti, Federica $u Centre for Primary Immune Deficiency, AUO Policlinico Umberto I, Rome, Italy
700    1_
$a Milito, Cinzia $u Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy
700    1_
$a Granata, Guido $u Clinical and Research Department for Infectious Diseases, National Institute for Infectious Diseases L. Spallanzani (IRCCS), 00149 Rome, Italy
700    1_
$a Giorda, Ezio $u Research Laboratories, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
700    1_
$a Ahlström, Sara $u Department of Infectious Diseases, Institute of Biomedicine, The Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
700    1_
$a Karlsson, Johanna $u Department of Infectious Diseases, Institute of Biomedicine, The Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden
700    1_
$a Marasco, Emiliano $u Division of Rheumatology, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
700    1_
$a Marcellini, Valentina $u Research Laboratories, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
700    1_
$a Bocci, Chiara $u B Cell Pathophysiology Unit, Immunology Research Area, Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy
700    1_
$a Cascioli, Simona $u Research Laboratories, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
700    1_
$a Scarsella, Marco $u Research Laboratories, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
700    1_
$a Phad, Ganesh $u Institute for Research in Biomedicine (IRB), Università della Svizzera Italiana (USI), Bellinzona, Switzerland
700    1_
$a Tilevik, Andreas $u School of Bioscience, University of Skövde, Skövde, Sweden
700    1_
$a Tartaglia, Marco $u Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy
700    1_
$a Bemark, Mats $u Department of Microbiology and Immunology, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden; Department of Clinical Immunology and Transfusion Medicine, Region Västra Götaland, Sahlgrenska University Hospital, Gothenburg, Sweden
700    1_
$a Chudakov, Dmitriy M $u Center of Life Sciences, Skolkovo Institute of Science and Technology, Moscow, Russia; Shemyakin and Ovchinnikov Institute of Bioorganic Chemistry, Moscow, Russia; Institute of Translational Medicine, Pirogov Russian National Research Medical University, Moscow, Russia; Central European Institute of Technology, Brno, Czech Republic
700    1_
$a Carsetti, Rita $u B Cell Pathophysiology Unit, Immunology Research Area, Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy; Unit of Diagnostic Immunology, Department of Laboratories, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy
700    1_
$a Grimsholm, Ola $u Institute of Pathophysiology and Allergy Research, Centre for Pathophysiology, Infectiology, and Immunology, Medical University of Vienna, Vienna, Austria; Department of Rheumatology and Inflammation Research, The Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden; B Cell Pathophysiology Unit, Immunology Research Area, Ospedale Pediatrico Bambino Gesù IRCCS, Rome, Italy. Electronic address: ola.grimsholm@meduniwien.ac.at
773    0_
$w MED00188029 $t Cell reports $x 2211-1247 $g Roč. 42, č. 5 (2023), s. 112446
856    41
$u https://pubmed.ncbi.nlm.nih.gov/37119135 $y Pubmed
910    __
$a ABA008 $b sig $c sign $y p $z 0
990    __
$a 20230718 $b ABA008
991    __
$a 20230801133003 $b ABA008
999    __
$a ok $b bmc $g 1963647 $s 1197621
BAS    __
$a 3
BAS    __
$a PreBMC-MEDLINE
BMC    __
$a 2023 $b 42 $c 5 $d 112446 $e 20230427 $i 2211-1247 $m Cell reports $n Cell Rep $x MED00188029
LZP    __
$a Pubmed-20230718

Najít záznam

Citační ukazatele

Možnosti archivace