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293 results on '"Bigley, Venetia"'

1. An International Survey of Allogeneic Hematopoietic Cell Transplantation for X-Linked Agammaglobulinemia

Author

Nishimura, Akira, Uppuluri, Ramya, Raj, Revathi, Swaminathan, Venkateswaran Vellaichamy, Cheng, Yifei, Abu-Arja, Rolla F., Fu, Bin, Laberko, Alexandra, Albert, Michael H., Hauck, Fabian, Bucciol, Giorgia, Bigley, Venetia, Elcombe, Suzanne, Kharya, Gaurav, Pronk, Cornelis Jan H, Wehr, Claudia, Neven, Bénédicte, Warnatz, Klaus, Meyts, Isabelle, Morio, Tomohiro, Gennery, Andrew R., and Kanegane, Hirokazu

Published
2023
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4. Lineage switching of the cellular distribution of BRAFV600E in multisystem Langerhans cell histiocytosis

Author

Milne, Paul, Bomken, Simon, Slater, Olga, Kumar, Ashish, Nelson, Adam, Roy, Somak, Velazquez, Jessica, Mankad, Kshitij, Nicholson, James, Yeomanson, Dan, Grundy, Richard, Kamal, Ahmed, Penn, Anthony, Pears, Jane, Millen, Gerard, Morland, Bruce, Hayden, James, Lam, Jason, Madkhali, Maymoon, MacDonald, Jamie, Singh, Preeti, Pagan, Sarah, Rodriguez-Galindo, Carlos, Minkov, Milen, Donadieu, Jean, Picarsic, Jennifer, Allen, Carl, Bigley, Venetia, and Collin, Matthew

Published
2023
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6. Epigenetic regulator genes direct lineage switching in MLL/AF4 leukemia

Author

Tirtakusuma, Ricky, Szoltysek, Katarzyna, Milne, Paul, Grinev, Vasily V., Ptasinska, Anetta, Chin, Paulynn S., Meyer, Claus, Nakjang, Sirintra, Hehir-Kwa, Jayne Y., Williamson, Daniel, Cauchy, Pierre, Keane, Peter, Assi, Salam A., Ashtiani, Minoo, Kellaway, Sophie G., Imperato, Maria R., Vogiatzi, Fotini, Schweighart, Elizabeth K., Lin, Shan, Wunderlich, Mark, Stutterheim, Janine, Komkov, Alexander, Zerkalenkova, Elena, Evans, Paul, McNeill, Hesta, Elder, Alex, Martinez-Soria, Natalia, Fordham, Sarah E., Shi, Yuzhe, Russell, Lisa J., Pal, Deepali, Smith, Alex, Kingsbury, Zoya, Becq, Jennifer, Eckert, Cornelia, Haas, Oskar A., Carey, Peter, Bailey, Simon, Skinner, Roderick, Miakova, Natalia, Collin, Matthew, Bigley, Venetia, Haniffa, Muzlifah, Marschalek, Rolf, Harrison, Christine J., Cargo, Catherine A., Schewe, Denis, Olshanskaya, Yulia, Thirman, Michael J., Cockerill, Peter N., Mulloy, James C., Blair, Helen J., Vormoor, Josef, Allan, James M., Bonifer, Constanze, Heidenreich, Olaf, and Bomken, Simon

Published
2022
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7. Hematopoietic stem cell transplantation for adolescents and adults with inborn errors of immunity: an EBMT IEWP study

Author

Aiuti, Alessandro, Maschan, Alexei, Aljurf, Mahmoud, Gedde-Dahl, Tobias, Gurman, Gunhan, Bordon, Victoria, Kriván, Gergely, Locatelli, Franco, Porta, Fulvio, Valcárcel, David, Beguin, Yves, Faraci, Maura, Kröger, Nicolaus, Kulagin, Aleksandr, Shaw, Peter J., Veelken, Joan Hendrik, Diaz de Heredia, Cristina, Fagioli, Franca, Felber, Matthias, Gruhn, Bernd, Holter, Wolfgang, Rössig, Claudia, Sedlacek, Petr, Apperley, Jane, Ayas, Mouhab, Bodova, Ivana, Choi, Goda, Cornelissen, J.J., Sirvent, Anne, Khan, Anjum, Kupesiz, Alphan, Lenhoff, Stig, Ozdogu, Hakan, von der Weid, Nicolas, Rovira, Montserrat, Schots, Rik, Vinh, Donald C., Albert, Michael H., Sirait, Tiarlan, Eikema, Dirk-Jan, Bakunina, Katerina, Wehr, Claudia, Suarez, Felipe, Fox, Maria Laura, Mahlaoui, Nizar, Gennery, Andrew R., Lankester, Arjan C., Beier, Rita, Bernardo, Maria Ester, Bigley, Venetia, Lindemans, Caroline A., Burns, Siobhan O., Carpenter, Ben, Dybko, Jaroslaw, Güngör, Tayfun, Hauck, Fabian, Lum, Su Han, Balashov, Dmitry, Meisel, Roland, Moshous, Despina, Schulz, Ansgar, Speckmann, Carsten, Slatter, Mary A., Strahm, Brigitte, Uckan-Cetinkaya, Duygu, Meyts, Isabelle, Vallée, Tanja C., Wynn, Robert, Neven, Bénédicte, and Morris, Emma C.

Published
2022
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11. Donor monocyte-derived macrophages promote human acute graft-versus-host disease

Author

Jardine, Laura, Cytlak, Urszula, Gunawan, Merry, Reynolds, Gary, Green, Kile, Wang, Xiao-Nong, Pagan, Sarah, Paramitha, Maharani, Lamb, Christopher A., Long, Anna K., Hurst, Erin, Nair, Smeera, Jackson, Graham H., Publicover, Amy, Bigley, Venetia, Haniffa, Muzlifah, Simpson, A.J., and Collin, Matthew

Subjects
Macrophages -- Analysis, Skin -- Analysis -- Genetic aspects, Gene expression -- Analysis -- Genetic aspects, T cells -- Genetic aspects -- Analysis, Health care industry
Abstract

Myelopoiesis is invariably present and contributes to pathology in animal models of graft-versus-host disease (GVHD). In humans, a rich inflammatory infiltrate bearing macrophage markers has also been described in histological studies. In order to determine the origin, functional properties, and role in pathogenesis of these cells, we isolated single-cell suspensions from acute cutaneous GVHD and subjected them to genotype, transcriptome, and in vitro functional analysis. A donor-derived population of [CD11c.sup.+][CD14.sup.+] cells was the dominant population of all leukocytes in GVHD. Surface phenotype and NanoString gene expression profiling indicated the closest steady-state counterpart of these cells to be monocyte-derived macrophages. In GVHD, however, there was upregulation of monocyte antigens SIRP[alpha] and S100A8/9 transcripts associated with leukocyte trafficking, pattern recognition, antigen presentation, and costimulation. Isolated GVHD macrophages stimulated greater proliferation and activation of allogeneic T cells and secreted higher levels of inflammatory cytokines than their steady-state counterparts. In HLA-matched mixed leukocyte reactions, we also observed differentiation of activated macrophages with a similar phenotype. These exhibited cytopathicity to a keratinocyte cell line and mediated pathological damage to skin explants independently of T cells. Together, these results define the origin, functional properties, and potential pathogenic roles of human GVHD macrophages., Introduction Acute graft-versus-host disease (GVHD) affects up to 50% of patients receiving allogeneic bone marrow transplantation (BMT) and remains a leading cause of morbidity and mortality (1, 2). GVHD most [...]

Published
2020
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13. Successful outcome following allogeneic hematopoietic stem cell transplantation in adults with primary immunodeficiency

Author

Fox, Thomas A., Chakraverty, Ronjon, Burns, Siobhan, Carpenter, Benjamin, Thomson, Kirsty, Lowe, David, Fielding, Adele, Peggs, Karl, Kottaridis, Panagiotis, Uttenthal, Benjamin, Bigley, Venetia, Buckland, Matthew, Grandage, Victoria, Denovan, Shari, Grace, Sarah, Dahlstrom, Julia, Workman, Sarita, Symes, Andrew, Mackinnon, Stephen, Hough, Rachael, and Morris, Emma

Published
2018
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14. Homeostasis of Langerhans and dendritic cells in health and disease

Author

Bigley, Venetia Hart

Subjects
612.7
Abstract

Dendritic Cells (DC) play a pivotal role in both the initiation of immunity and its regulation through tolerance induction. They represent potential targets or tools of therapy in autoimmunity, allergy, cancer, and transplant medicine. Despite recent progress in mapping tissue DC subsets in human, their ontogeny and mechanisms of homeostasis remain elusive. The conventional view is that maintenance of tissue DC and macrophages is dependent on constant replenishment from circulating monocyte precursors. This concept was derived from in vitro data and mouse models under perturbed conditions. While these observations may reflect events in inflammation, studies in murine steady-state biology have challenged this, with data indicating at least three ways in which DC may persist independently of monocytes: 1, tissue DC are replaced by non-monocyte, blood-borne precursors; 2, embryological cells seed tissues and persist in adulthood; 3, DC, or their immediate precursors, self-renew in tissues. These mechanisms may not be mutually exclusive. Although much has been gained from the study of DC kinetics in human transplant, these conditions are, at least in part, inflammatory. To understand the steady-state homeostasis of DC and epidermal Langerhans cells (LC) in human tissues, a number of approaches were taken. Firstly, a comprehensive ‘DC profile’ of normal human tissues was developed, starting with detailed characterization of DC, monocyte and macrophage populations in human peripheral blood (PB) and skin. This lead to the identification of new DC subsets in peripheral tissue. Cells with DC precursor potential were then sought, through analysis of their growth factor receptor expression and ability to enter into cell cycle. Correlative data was gathered to suggest relationships between potential blood borne DC precursors and skin APC. The CD34+ haematopoietic compartment was examined to identify potential DC progenitors. The granulocyte/macrophage progenitor (GMP) and a more recently described multilymphoid progenitor (MLP) were identified and shown also to be present in PB. CD34+ cells were identified in peripheral tissue. While cell and gene knockout experiments have significantly advanced understanding of murine DC, these experiments are not possible in human. The second approach was therefore to undertake a search for subjects with spontaneous DC or monocyte deficiencies. Two novel syndromes were identified; Dendritic Cell, Monocyte, B and NK Lymphoid (DCML) deficiency (4 subjects) and autosomal recessive IRF8 deficiency (1 subject). In both cases, severe depletion of peripheral blood monocyte and DC subsets was associated with absence of tissue DC but preservation of LC and some tissue macrophages. Examination of CD34+ stem cell compartments revealed distinct stem cell defects resulting in loss of MLP and depletion of GMP in DCML deficiency, but accumulation of these subsets in IRF8 deficiency. As predicted by mouse models, DC deficiency was associated with a reduction in circulating regulatory T cells, in the context of elevated Flt3-ligand. Finally, lesions of Langerhans Cell Histiocytosis (LCH), a histiocytic disorder presenting with pathological accumulation of langerin+ DC in tissues, were studied. Analysis of langerin distribution in normal skin and lung identified a langerin+ DC, independent of LC. In keeping with in vitro culture data, preliminary observations show that langerin may be up-regulated on mDC in inflammatory conditions. These data suggest that langerin expression in LCH lesions may reflect its upregulation, rather than determine the LC origin of LCH cells. A variety of techniques have been used to explore DC in normal tissue, novel syndromes of DC deficiency and Langerhans cell histiocytosis. These studies provide new insights into the ontogeny and homeostasis of human DC and LC.

Published
2011

17. Adaptive NK cells can persist in patients with GATA2 mutation depleted of stem and progenitor cells

Author

Schlums, Heinrich, Jung, Moonjung, Han, Hongya, Theorell, Jakob, Bigley, Venetia, Chiang, Samuel C.C., Allan, David S.J., Davidson-Moncada, Jan K., Dickinson, Rachel E., Holmes, Tim D., Hsu, Amy P., Townsley, Danielle, Winkler, Thomas, Wang, Weixin, Aukrust, Pål, Nordøy, Ingvild, Calvo, Katherine R., Holland, Steve M., Collin, Matthew, Dunbar, Cynthia E., and Bryceson, Yenan T.

Published
2017
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18. Guidelines for mouse and human DC generation.

Author

Lutz, Manfred B., Ali, Shafaqat, Audiger, Cindy, Autenrieth, Stella E., Berod, Luciana, Bigley, Venetia, Cyran, Laura, Dalod, Marc, Dörrie, Jan, Dudziak, Diana, Flórez‐Grau, Georgina, Giusiano, Lucila, Godoy, Gloria J., Heuer, Marion, Krug, Anne B., Lehmann, Christian H. K., Mayer, Christian T., Naik, Shalin H., Scheu, Stefanie, and Schreibelt, Gerty

Subjects
CORD blood, DENDRITIC cells, MICE, FLUORESCENCE microscopy, IMMUNOLOGISTS
Abstract

This article is part of the Dendritic Cell Guidelines article series, which provides a collection of state‐of‐the‐art protocols for the preparation, phenotype analysis by flow cytometry, generation, fluorescence microscopy, and functional characterization of mouse and human dendritic cells (DC) from lymphoid organs and various non‐lymphoid tissues. This article provides protocols with top ticks and pitfalls for preparation and successful generation of mouse and human DC from different cellular sources, such as murine BM and HoxB8 cells, as well as human CD34+ cells from cord blood, BM, and peripheral blood or peripheral blood monocytes. We describe murine cDC1, cDC2, and pDC generation with Flt3L and the generation of BM‐derived DC with GM‐CSF. Protocols for human DC generation focus on CD34+ cell culture on OP9 cell layers for cDC1, cDC2, cDC3, and pDC subset generation and DC generation from peripheral blood monocytes (MoDC). Additional protocols include enrichment of murine DC subsets, CRISPR/Cas9 editing, and clinical grade human DC generation. While all protocols were written by experienced scientists who routinely use them in their work, this article was also peer‐reviewed by leading experts and approved by all co‐authors, making it an essential resource for basic and clinical DC immunologists. [ABSTRACT FROM AUTHOR]

Published
2023
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19. Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)–associated inflammatory diseases

Author

Holzinger, Dirk, Fassl, Selina Kathleen, de Jager, Wilco, Lohse, Peter, Röhrig, Ute F., Gattorno, Marco, Omenetti, Alessia, Chiesa, Sabrina, Schena, Francesca, Austermann, Judith, Vogl, Thomas, Kuhns, Douglas B., Holland, Steven M., Rodríguez-Gallego, Carlos, López-Almaraz, Ricardo, Arostegui, Juan I., Colino, Elena, Roldan, Rosa, Fessatou, Smaragdi, Isidor, Bertrand, Poignant, Sylvaine, Ito, Koichi, Epple, Hans-Joerg, Bernstein, Jonathan A., Jeng, Michael, Frankovich, Jennifer, Lionetti, Geraldina, Church, Joseph A., Ong, Peck Y., LaPlant, Mona, Abinun, Mario, Skinner, Rod, Bigley, Venetia, Sachs, Ulrich J., Hinze, Claas, Hoppenreijs, Esther, Ehrchen, Jan, Foell, Dirk, Chae, Jae Jin, Ombrello, Amanda, Aksentijevich, Ivona, Sunderkoetter, Cord, and Roth, Johannes

Published
2015
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20. Guidelines for mouse and human DC generation

Author

Lutz, Manfred B., primary, Ali, Shafaqat, additional, Audiger, Cindy, additional, Autenrieth, Stella E., additional, Berod, Luciana, additional, Bigley, Venetia, additional, Cyran, Laura, additional, Dalod, Marc, additional, Dörrie, Jan, additional, Dudziak, Diana, additional, Flórez‐Grau, Georgina, additional, Giusiano, Lucila, additional, Godoy, Gloria J., additional, Heuer, Marion, additional, Krug, Anne B., additional, Lehmann, Christian H. K., additional, Mayer, Christian T., additional, Naik, Shalin H., additional, Scheu, Stefanie, additional, Schreibelt, Gerty, additional, Segura, Elodie, additional, Seré, Kristin, additional, Sparwasser, Tim, additional, Tel, Jurjen, additional, Xu, Huaming, additional, and Zenke, Martin, additional

Published
2022
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21. Hematopoietic stem cell transplantation for adolescents and adults with inborn errors of immunity: an EBMT IEWP study

Author

Albert, Michael H., primary, Sirait, Tiarlan, additional, Eikema, Dirk-Jan, additional, Bakunina, Katerina, additional, Wehr, Claudia, additional, Suarez, Felipe, additional, Fox, Maria Laura, additional, Mahlaoui, Nizar, additional, Gennery, Andrew R., additional, Lankester, Arjan C., additional, Beier, Rita, additional, Bernardo, Maria Ester, additional, Bigley, Venetia, additional, Lindemans, Caroline A., additional, Burns, Siobhan O., additional, Carpenter, Ben, additional, Dybko, Jaroslaw, additional, Güngör, Tayfun, additional, Hauck, Fabian, additional, Lum, Su Han, additional, Balashov, Dmitry, additional, Meisel, Roland, additional, Moshous, Despina, additional, Schulz, Ansgar, additional, Speckmann, Carsten, additional, Slatter, Mary A., additional, Strahm, Brigitte, additional, Uckan-Cetinkaya, Duygu, additional, Meyts, Isabelle, additional, Vallée, Tanja C., additional, Wynn, Robert, additional, Neven, Bénédicte, additional, Morris, Emma C., additional, Aiuti, Alessandro, additional, Maschan, Alexei, additional, Aljurf, Mahmoud, additional, Gedde-Dahl, Tobias, additional, Gurman, Gunhan, additional, Bordon, Victoria, additional, Kriván, Gergely, additional, Locatelli, Franco, additional, Porta, Fulvio, additional, Valcárcel, David, additional, Beguin, Yves, additional, Faraci, Maura, additional, Kröger, Nicolaus, additional, Kulagin, Aleksandr, additional, Shaw, Peter J., additional, Veelken, Joan Hendrik, additional, Diaz de Heredia, Cristina, additional, Fagioli, Franca, additional, Felber, Matthias, additional, Gruhn, Bernd, additional, Holter, Wolfgang, additional, Rössig, Claudia, additional, Sedlacek, Petr, additional, Apperley, Jane, additional, Ayas, Mouhab, additional, Bodova, Ivana, additional, Choi, Goda, additional, Cornelissen, J.J., additional, Sirvent, Anne, additional, Khan, Anjum, additional, Kupesiz, Alphan, additional, Lenhoff, Stig, additional, Ozdogu, Hakan, additional, von der Weid, Nicolas, additional, Rovira, Montserrat, additional, Schots, Rik, additional, and Vinh, Donald C., additional

Published
2022
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23. Biallelic mutations in IRF8 impair human NK cell maturation and function

Author

Mace, Emily M., Bigley, Venetia, Gunesch, Justin T., Chinn, Ivan K., Angelo, Laura S., Care, Matthew A., Maisuria, Sheetal, Keller, Michael D., Togi, Sumihito, Watkin, Levi B., LaRosa, David F., Jhangiani, Shalini N., Muzny, Donna M., Stray- Pedersen, Asbjorg, Akdemir, Zeynep Coban, Smith, Jansen B., Hernandez-Sanabria, Mayra, Le, Duy T., Hogg, Graham D., Cao, Tram N., Freud, Aharon G., Szymanski, Eva P., Savic, Sinisa, Collin, Matthew, Cant, Andrew J., Gibbs, Richard A., Holland, Steven M., Caligiuri, Michael A., Ozato, Keiko, Paust, Silke, Doody, Gina M., Lupski, James R., and Orange, Jordan S.

Subjects
Nucleotide sequencing -- Usage, Gene mutations -- Analysis, DNA sequencing -- Usage, Killer cells -- Analysis, Health care industry
Abstract

Human NK cell deficiencies are rare yet result in severe and often fatal disease, particularly as a result of viral susceptibility. NK cells develop from hematopoietic stem cells, and few monogenic errors that specifically interrupt NK cell development have been reported. Here we have described biallelic mutations in IRF8, which encodes an interferon regulatory factor, as a cause of familial NK cell deficiency that results in fatal and severe viral disease. Compound heterozygous or homozygous mutations in IRF8 in 3 unrelated families resulted in a paucity of mature [CD56.sup.dim] NK cells and an increase in the frequency of the immature [CD56.sub.bright] NK cells, and this impairment in terminal maturation was also observed in [Irf8.sup.-/-], but not [Irf8.sup.+/-] mice. We then determined that impaired maturation was NK cell intrinsic, and gene expression analysis of human NK cell developmental subsets showed that multiple genes were dysregulated by IRF8 mutation. The phenotype was accompanied by deficient NK cell function and was stable over time. Together, these data indicate that human NK cells require IRF8 for development and functional maturation and that dysregulation of this function results in severe human disease, thereby emphasizing a critical role for NK cells in human antiviral defense., Introduction NK cell deficiency (NKD) is an inborn or primary immunodeficiency causing susceptibility to severe and often fatal viral infection and malignancy (1-5). NKD can be classified as classical, arising [...]

Published
2017
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24. Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency

Author

Lévy, Romain, Gothe, Florian, Momenilandi, Mana, Magg, Thomas, Materna, Marie, Peters, Philipp, Raedler, Johannes, Philippot, Quentin, Rack-Hoch, Anita, Langlais, David, Bourgey, Mathieu, Lanz, Anna-Lisa, Ogishi, Masato, Rosain, Jérémie, Martin, Emmanuel, Latour, Sylvain, Vladikine, Natasha, Distefano, Marco, Khan, Taushif, Rapaport, Franck, Schulz, Marian, Holzer, Ursula, Fasth, Anders, Sogkas, Georgios, Speckmann, Carsten, Troilo, Arianna, Bigley, Venetia, Roppelt, Anna, Dinur-Schejter, Yael, Toker, Ori, Bronken Martinsen, Karen, Sherkat, Roya, Somekh, Ido, Somech, Raz, Shouval, Dror, Kühl, Jörn-Sven, Ip, Winnie, Mcdermott, Elizabeth, Cliffe, Lucy, Ozen, Ahmet, Baris, Safa, Rangarajan, Hemalatha, Jouanguy, Emmanuelle, Puel, Anne, Bustamante, Jacinta, Alyanakian, Marie-Alexandra, Fusaro, Mathieu, Wang, Yi, Kong, Xiao-Fei, Cobat, Aurélie, Boutboul, David, Castelle, Martin, Aguilar, Claire, Hermine, Olivier, Cheminant, Morgane, Suarez, Felipe, Yildiran, Alisan, Bousfiha, Aziz, Al-Mousa, Hamoud, Alsohime, Fahad, Cagdas, Deniz, Abraham, Roshini, Knutsen, Alan, Fevang, Borre, Bhattad, Sagar, Kiykim, Ayca, Erman, Baran, Arikoglu, Tugba, Unal, Ekrem, Kumar, Ashish, Geier, Christoph, Baumann, Ulrich, Neven, Bénédicte, Calas, Julie, Feuille, Elizabeth, Chan, Angela, Yesil, Gozde, Nammour, Justine, Bandet, Élise, Picard, Capucine, Benhsaien, Ibtihal, Lang, Peter, Atschekzei, Faranaz, Warnatz, Klaus, Hambleton, Sophie, Desai, Mukesh, Karakoc-Aydiner, Elif, Kolukisa, Burcu, Al-Muhsen, Saleh, Alosaimi, Mohammed, Cipe, Funda, Alazami, Anas, Hancioglu, Gonca, Can Meydan, Bilge, Sorte, Hanne, Stray-Pedersen, Asbjørg, Mammayil, Geetha, Tökmeci, Nazan, Shcherbina, Anna, Stepensky, Polina, Nasereddin, Adeeb, Rouzaud, Claire, Hoshino, Akihiro, Shamriz, Oded, Ledder, Oren, Maccari, Maria, Castro, Carla, Grimbacher, Bodo, Schmidt, Reinhold, Collin, Matthew, Zakharova, Victorya, Rohlfs, Meino, Walz, Christoph, Abel, Laurent, Malissen, Bernard, Marr, Nico, Klein, Christoph, Casanova, Jean-Laurent, Hauck, Fabian, Béziat, Vivien, Lévy R., Gothe F., Momenilandi M., Magg T., Materna M., Peters P., Raedler J., Philippot Q., Rack-Hoch A. L., Langlais D., et al., Centre d'Immunologie de Marseille - Luminy (CIML), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre d'Immunophénomique (CIPHE), ANR-10-LABX-0062,IBEID,Integrative Biology of Emerging Infectious Diseases(2010), ANR-10-IAHU-0003,Méditerranée Infection,I.H.U. Méditerranée Infection(2010), and ANR-21-CE15-0034,CARMIL2,Bases moléculaires, cellulaires et immunologiques de la déficience combinée résultant de mutations dans CARMIL2(2021)

Subjects
CD4-Positive T-Lymphocytes, Phenotype, CD28 Antigens, [SDV]Life Sciences [q-bio], Microfilament Proteins, Mutation, Immunology, Humans, Immunology and Allergy
Abstract

International audience; Patients with inherited CARMIL2 or CD28 deficiency have defective T cell CD28 signaling, but their immunological and clinical phenotypes remain largely unknown. We show that only one of three CARMIL2 isoforms is produced and functional across leukocyte subsets. Tested mutant CARMIL2 alleles from 89 patients and 52 families impair canonical NF-κB but not AP-1 and NFAT activation in T cells stimulated via CD28. Like CD28-deficient patients, CARMIL2-deficient patients display recalcitrant warts and low blood counts of CD4 + and CD8 + memory T cells and CD4 + T REG s. Unlike CD28-deficient patients, they have low counts of NK cells and memory B cells, and their antibody responses are weak. CARMIL2 deficiency is fully penetrant by the age of 10 yr and is characterized by numerous infections, EBV + smooth muscle tumors, and mucocutaneous inflammation, including inflammatory bowel disease. Patients with somatic reversions of a mutant allele in CD4 + T cells have milder phenotypes. Our study suggests that CARMIL2 governs immunological pathways beyond CD28.

Published
2022

25. Lineage-switching of the cellular distribution of BRAFV600E in multisystem Langerhans cell histiocytosis

Author

Milne, Paul, primary, Bomken, Simon, additional, Slater, Olga, additional, Kumar, Ashish R., additional, Nelson, Adam S, additional, Roy, Somak, additional, Velazquez, Jessica, additional, Mankad, Kshitij, additional, Nicholson, James, additional, Yeomanson, Dan, additional, Grundy, Richard, additional, Kamal, Ahmed, additional, Penn, Anthony, additional, Pears, Jane, additional, Millen, Gerard, additional, Morland, Bruce, additional, Hayden, James Timothy, additional, Lam, Jason, additional, Madkhali, Maymoon, additional, Macdonald, Jamie Liam, additional, Singh, Preeti, additional, Pagan, Sarah, additional, Rodriguez-Galindo, Carlos, additional, Minkov, Milen, additional, Donadieu, Jean, additional, Picarsic, Jennifer, additional, Allen, Carl E, additional, Bigley, Venetia, additional, and Collin, Matthew, additional

Published
2022
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26. The evolution of cellular deficiency in GATA2 mutation

Author

Dickinson, Rachel E., Milne, Paul, Jardine, Laura, Zandi, Sasan, Swierczek, Sabina I., McGovern, Naomi, Cookson, Sharon, Ferozepurwalla, Zaveyna, Langridge, Alexander, Pagan, Sarah, Gennery, Andrew, Heiskanen-Kosma, Tarja, Hämäläinen, Sari, Seppänen, Mikko, Helbert, Matthew, Tholouli, Eleni, Gambineri, Eleonora, Reykdal, Sigrún, Gottfreðsson, Magnús, Thaventhiran, James E., Morris, Emma, Hirschfield, Gideon, Richter, Alex G., Jolles, Stephen, Bacon, Chris M., Hambleton, Sophie, Haniffa, Muzlifah, Bryceson, Yenan, Allen, Carl, Prchal, Josef T., Dick, John E., Bigley, Venetia, and Collin, Matthew

Published
2014
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30. Lineage switching of the cellular distribution of BRAFV600Ein multisystem Langerhans cell histiocytosis

Author

Milne, Paul, Bomken, Simon, Slater, Olga, Kumar, Ashish, Nelson, Adam, Roy, Somak, Velazquez, Jessica, Mankad, Kshitij, Nicholson, James, Yeomanson, Dan, Grundy, Richard, Kamal, Ahmed, Penn, Anthony, Pears, Jane, Millen, Gerard, Morland, Bruce, Hayden, James, Lam, Jason, Madkhali, Maymoon, MacDonald, Jamie, Singh, Preeti, Pagan, Sarah, Rodriguez-Galindo, Carlos, Minkov, Milen, Donadieu, Jean, Picarsic, Jennifer, Allen, Carl, Bigley, Venetia, and Collin, Matthew

Abstract

•BRAFV600Ealleles are mainly found in myeloid cells at diagnosis of multisystem LCH.•After more than 2 years, T cells account for 85% of persistent BRAFV600Emutation detected in peripheral blood mononuclear cells.

Published
2023
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31. GATA2 deficiency phenotype associated with tandem duplication GATA2 and over-expression of GATA2-AS1

Author

Singh, Preeti, primary, Heer, Maninder, additional, Resteu, Anastasia, additional, Mikulasova, Aneta, additional, Reza, Mojgan, additional, Largeaud, Laetitia, additional, Dufrechou, Stephanie, additional, Prade, Nais, additional, Dickinson, Rachel E, additional, Bustamante, Jacinta, additional, Neven, Bénédicte, additional, Bigley, Venetia, additional, Delabesse, Eric, additional, Rico, Daniel, additional, Pasquet, Marlene, additional, and Collin, Matthew, additional

Published
2021
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33. Epigenetic regulator genes direct lineage switching in MLL-AF4 leukaemia

Author

Tirtakusuma, Ricky, primary, Szoltysek, Katarzyna, additional, Milne, Paul, additional, Grinev, Vasily V, additional, Ptasinska, Anetta, additional, Meyer, Claus, additional, Nakjang, Sirintra, additional, Hehir-Kwa, Jayne Y, additional, Williamson, Daniel, additional, Cauchy, Pierre, additional, Assi, Salam A, additional, Imperato, Maria R, additional, Vogiatzi, Fotini, additional, Lin, Shan, additional, Wunderlich, Mark, additional, Stutterheim, Janine, additional, Komkov, Alexander, additional, Zerkalenkova, Elena, additional, Evans, Paul, additional, McNeill, Hesta, additional, Elder, Alex, additional, Martinez-Soria, Natalia, additional, Fordham, Sarah E, additional, Shi, Yuzhe, additional, Russell, Lisa J, additional, Pal, Deepali, additional, Smith, Alex, additional, Kingsbury, Zoya, additional, Becq, Jennifer, additional, Eckert, Cornelia, additional, Haas, Oskar A, additional, Carey, Peter, additional, Bailey, Simon, additional, Skinner, Roderick, additional, Miakova, Natalia, additional, Collin, Matthew, additional, Bigley, Venetia, additional, Haniffa, Muzlifah, additional, Marschalek, Rolf, additional, Harrison, Christine J, additional, Cargo, Catherine A, additional, Schewe, Denis, additional, Olshanskaya, Yulia, additional, Thirman, Michael J, additional, Cockerill, Peter N, additional, Mulloy, James C, additional, Blair, Helen J, additional, Vormoor, Josef, additional, Allan, James M, additional, Bonifer, Constanze, additional, Heidenreich, Olaf, additional, and Bomken, Simon, additional

Published
2021
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37. Human Dermal CD14+ Cells Are a Transient Population of Monocyte-Derived Macrophages

Author

McGovern, Naomi, Schlitzer, Andreas, Gunawan, Merry, Jardine, Laura, Shin, Amanda, Poyner, Elizabeth, Green, Kile, Dickinson, Rachel, Wang, Xiao-nong, Low, Donovan, Best, Katie, Covins, Samuel, Milne, Paul, Pagan, Sarah, Aljefri, Khadija, Windebank, Martin, Saavedra, Diego Miranda, Larbi, Anis, Wasan, Pavandip Singh, Duan, Kaibo, Poidinger, Michael, Bigley, Venetia, Ginhoux, Florent, Collin, Matthew, and Haniffa, Muzlifah

Published
2014
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38. Human fetal dendritic cells promote prenatal T-cell immune suppression through arginase-2

Author

McGovern, Naomi, Shin, Amanda, Low, Gillian, Low, Donovan, Duan, Kaibo, Yao, Leong Jing, Msallam, Rasha, Low, Ivy, Shadan, Nurhidaya Binte, Sumatoh, Hermi R, Soon, Erin, Lum, Josephine, Mok, Esther, Hubert, Sandra, See, Peter, Kunxiang, Edwin Huang, Lee, Yie Hou, Janela, Baptiste, Choolani, Mahesh, Mattar, Citra Nurfarah Zaini, Fan, Yiping, Lim, Tony Kiat Hon, Chan, Dedrick Kok Hong, Tan, Ker-Kan, Tam, John Kit Chung, Schuster, Christopher, Elbe-Brger, Adelheid, Wang, Xiao-nong, Bigley, Venetia, Collin, Matthew, Haniffa, Muzlifah, Schlitzer, Andreas, Poidinger, Michael, Albani, Salvatore, Larbi, Anis, Newell, Evan W, Chan, Jerry Kok Yen, and Ginhoux, Florent

Subjects
Dendritic cells -- Physiological aspects, Immune response -- Observations, T cells -- Physiological aspects, Environmental issues, Science and technology, Zoology and wildlife conservation
Abstract

Author(s): Naomi McGovern [1]; Amanda Shin [1, 2]; Gillian Low [1]; Donovan Low [1]; Kaibo Duan [1]; Leong Jing Yao [3]; Rasha Msallam [1]; Ivy Low [1]; Nurhidaya Binte Shadan [...]

Published
2017
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39. Human dendritic cell subsets: an update

Author

Collin, Matthew and Bigley, Venetia

Subjects
dendritic cell, Immunity, Cell Differentiation, Review Article, Cell Communication, Dendritic Cells, Immunophenotyping, transcriptomics, Kruppel-Like Factor 4, Phenotype, Humans, antigen presentation/processing, Review Articles, Biomarkers, Signal Transduction
Abstract

Summary Dendritic cells (DC) are a class of bone‐marrow‐derived cells arising from lympho‐myeloid haematopoiesis that form an essential interface between the innate sensing of pathogens and the activation of adaptive immunity. This task requires a wide range of mechanisms and responses, which are divided between three major DC subsets: plasmacytoid DC (pDC), myeloid/conventional DC1 (cDC1) and myeloid/conventional DC2 (cDC2). Each DC subset develops under the control of a specific repertoire of transcription factors involving differential levels of IRF8 and IRF4 in collaboration with PU.1, ID2, E2‐2, ZEB2, KLF4, IKZF1 and BATF3. DC haematopoiesis is conserved between mammalian species and is distinct from monocyte development. Although monocytes can differentiate into DC, especially during inflammation, most quiescent tissues contain significant resident populations of DC lineage cells. An extended range of surface markers facilitates the identification of specific DC subsets although it remains difficult to dissociate cDC2 from monocyte‐derived DC in some settings. Recent studies based on an increasing level of resolution of phenotype and gene expression have identified pre‐DC in human blood and heterogeneity among cDC2. These advances facilitate the integration of mouse and human immunology, support efforts to unravel human DC function in vivo and continue to present new translational opportunities to medicine.

Published
2018

40. A Novel Case of Homozygous Interferon Alpha/Beta Receptor Alpha Chain (IFNAR1) Deficiency With Hemophagocytic Lymphohistiocytosis

Author

Gothe, Florian, primary, Hatton, Catherine F, additional, Truong, Linh, additional, Klimova, Zofia, additional, Kanderova, Veronika, additional, Fejtkova, Martina, additional, Grainger, Angela, additional, Bigley, Venetia, additional, Perthen, Joanna, additional, Mitra, Dipayan, additional, Janda, Ales, additional, Fronkova, Eva, additional, Moravcikova, Dusana, additional, Hambleton, Sophie, additional, and Duncan, Christopher J A, additional

Published
2020
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42. Novel Case of Homozygous Interferon Alpha/Beta Receptor Alpha Chain (IFNAR1) Deficiency With Hemophagocytic Lymphohistiocytosis.

Author

Gothe, Florian, Hatton, Catherine F, Truong, Linh, Klimova, Zofia, Kanderova, Veronika, Fejtkova, Martina, Grainger, Angela, Bigley, Venetia, Perthen, Joanna, Mitra, Dipayan, Janda, Ales, Fronkova, Eva, Moravcikova, Dusana, Hambleton, Sophie, and Duncan, Christopher J A

Subjects
HEMOPHAGOCYTIC lymphohistiocytosis, IMMUNIZATION, INFLAMMATION, CELL receptors, INTERFERONS, IMMUNOLOGICAL deficiency syndromes, INBORN errors of metabolism
Abstract

We present a case of complete deficiency of the interferon alpha/beta receptor alpha chain (IFNAR1) in a child with fatal systemic hyperinflammation, apparently provoked by live-attenuated viral vaccination. Such pathologic hyperinflammation, fulfilling criteria for hemophagocytic lymphohistiocytosis, is an emerging phenotype accompanying inborn errors of type I interferon immunity. [ABSTRACT FROM AUTHOR]

Published
2022
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43. Human Tissues Contain CD141hi Cross-Presenting Dendritic Cells with Functional Homology to Mouse CD103+ Nonlymphoid Dendritic Cells

Author

Haniffa, Muzlifah, Shin, Amanda, Bigley, Venetia, McGovern, Naomi, Teo, Pearline, See, Peter, Wasan, Pavandip Singh, Wang, Xiao-Nong, Malinarich, Frano, Malleret, Benoit, Larbi, Anis, Tan, Pearlie, Zhao, Helen, Poidinger, Michael, Pagan, Sarah, Cookson, Sharon, Dickinson, Rachel, Dimmick, Ian, Jarrett, Ruth F., Renia, Laurent, Tam, John, Song, Colin, Connolly, John, Chan, Jerry K.Y., Gehring, Adam, Bertoletti, Antonio, Collin, Matthew, and Ginhoux, Florent

Published
2012
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44. IRF8 Mutations and Human Dendritic-Cell Immunodeficiency

Author

Hambleton, Sophie, Salem, Sandra, Bustamante, Jacinta, Bigley, Venetia, Boisson-Dupuis, Stéphanie, Azevedo, Joana, Fortin, Anny, Haniffa, Muzlifah, Ceron-Gutierrez, Lourdes, Bacon, Chris M., Menon, Geetha, Trouillet, Céline, McDonald, David, Carey, Peter, Ginhoux, Florent, Alsina, Laia, Zumwalt, Timothy J., Kong, Xiao-Fei, Kumararatne, Dinakantha, Butler, Karina, Hubeau, Marjorie, Feinberg, Jacqueline, Al-Muhsen, Saleh, Cant, Andrew, Abel, Laurent, Chaussabel, Damien, Doffinger, Rainer, Talesnik, Eduardo, Grumach, Anete, Duarte, Alberto, Abarca, Katia, Moraes-Vasconcelos, Dewton, Burk, David, Berghuis, Albert, Geissmann, Frédéric, Collin, Matthew, Casanova, Jean-Laurent, and Gros, Philippe

Published
2011

48. Dendritic cell analysis in primary immunodeficiency

Author

Bigley, Venetia, Barge, Dawn, and Collin, Matthew

Subjects
Antigen Presentation, interferon regulatory factor 8, dendritic cell, T-Lymphocytes, Immunologic Deficiency Syndromes, GATA binding protein 2, Autoimmunity, Dendritic Cells, Adaptive Immunity, Monocytes, GATA2 Transcription Factor, monocyte, Interferon Regulatory Factors, Mutation, PRIMARY IMMUNE DEFICIENCY DISEASE: Edited by Stephen Jolles and Maite de la Morena, Animals, Humans, immunodeficiency
Abstract

Purpose of review Dendritic cells are specialized antigen-presenting cells which link innate and adaptive immunity, through recognition and presentation of antigen to T cells. Although the importance of dendritic cells has been demonstrated in many animal models, their contribution to human immunity remains relatively unexplored in vivo. Given their central role in infection, autoimmunity, and malignancy, dendritic cell deficiency or dysfunction would be expected to have clinical consequences. Recent findings Human dendritic cell deficiency disorders, related to GATA binding protein 2 (GATA2) and interferon regulatory factor 8 (IRF8) mutations, have highlighted the importance of dendritic cells and monocytes in primary immunodeficiency diseases and begun to shed light on their nonredundant roles in host defense and immune regulation in vivo. The contribution of dendritic cell and monocyte dysfunction to the pathogenesis of primary immunodeficiency disease phenotypes is becoming increasingly apparent. However, dendritic cell analysis is not yet a routine part of primary immunodeficiency disease workup. Summary Widespread uptake of dendritic cell/monocyte screening in clinical practice will facilitate the discovery of novel dendritic cell and monocyte disorders as well as advancing our understanding of human dendritic cell biology in health and disease.

Published
2016

49. A rule-based data-informed cellular consensus map of the human mononuclear phagocyte cell space

Author

Günther, Patrick, Cirovic, Branko, Baßler, Kevin, Händler, Kristian, Becker, Matthias, Dutertre, Charles Antoine, Bigley, Venetia, Newell, Evan, Collin, Matthew, Ginhoux, Florent, Schlitzer, Andreas, and Schultze, Joachim L.

Subjects
Consensus map, Cell space, Rule-based system, Computational biology, Mononuclear phagocyte system, Biology
Abstract

Single-cell genomic techniques are opening new avenues to understand the basic units of life. Large international efforts, such as those to derive a Human Cell Atlas, are driving progress in this area; here, cellular map generation is key. To expedite the inevitable iterations of these underlying maps, we have developed a rule-based data-informed approach to build next generation cellular consensus maps. Using the human dendritic-cell and monocyte compartment in peripheral blood as an example, we performed computational integration of previous, partially overlapping maps using an approach we termed ‘backmapping’, combined with multi-color flow-cytometry and index sorting-based single-cell RNA-sequencing. Our general strategy can be applied to any atlas generation for humans and other species.Graphical AbstractHighlightsDefining a consensus of the human myeloid cell compartment in peripheral blood3 monocytes subsets, pDC, cDC1, DC2, DC3 and precursor DC make up the compartmentDistinguish myeloid cell compartment from other cell spaces, e.g. the NK cell spaceProviding a generalizable method for building consensus maps for the life sciences

Published
2019

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