Search

Your search keyword '"Bustamante Jacinta"' showing total 15 results
Start Over Author "Bustamante Jacinta" Journal blood
15 results on '"Bustamante Jacinta"'

1. T-cell defects in patients with ARPC1B germline mutations account for combined immunodeficiency

Author

Brigida, Immacolata, Zoccolillo, Matteo, Cicalese, Maria Pia, Pfajfer, Laurène, Barzaghi, Federica, Scala, Serena, Oleaga-Quintas, Carmen, Álvarez-Álvarez, Jesus A., Sereni, Lucia, Giannelli, Stefania, Sartirana, Claudia, Dionisio, Francesca, Pavesi, Luca, Benavides-Nieto, Marta, Basso-Ricci, Luca, Capasso, Paola, Mazzi, Benedetta, Rosain, Jeremie, Marcus, Nufar, Lee, Yu Nee, Somech, Raz, Degano, Massimo, Raiola, Giuseppe, Caorsi, Roberta, Picco, Paolo, Moncada Velez, Marcela, Khourieh, Joelle, Arias, Andrés Augusto, Bousfiha, Aziz, Issekutz, Thomas, Issekutz, Andrew, Boisson, Bertrand, Dobbs, Kerry, Villa, Anna, Lombardo, Angelo, Neven, Benedicte, Moshous, Despina, Casanova, Jean-Laurent, Franco, José Luis, Notarangelo, Luigi D., Scielzo, Cristina, Volpi, Stefano, Dupré, Loïc, Bustamante, Jacinta, Gattorno, Marco, and Aiuti, Alessandro

Published
2018
Full Text
View/download PDF

2. Hematopoietic stem cell gene therapy for IFNγR1 deficiency protects mice from mycobacterial infections

Author

Hetzel, Miriam, Mucci, Adele, Blank, Patrick, Nguyen, Ariane Hai Ha, Schiller, Jan, Halle, Olga, Kühnel, Mark-Philipp, Billig, Sandra, Meineke, Robert, Brand, Daniel, Herder, Vanessa, Baumgärtner, Wolfgang, Bange, Franz-Christoph, Goethe, Ralph, Jonigk, Danny, Förster, Reinhold, Gentner, Bernhard, Casanova, Jean-Laurent, Bustamante, Jacinta, Schambach, Axel, Kalinke, Ulrich, and Lachmann, Nico

Published
2018
Full Text
View/download PDF

3. Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations

Author

Miot, Charline, Imai, Kohsuke, Imai, Chihaya, Mancini, Anthony J., Kucuk, Zeynep Yesim, Kawai, Tokomki, Nishikomori, Ryuta, Ito, Etsuro, Pellier, Isabelle, Dupuis Girod, Sophie, Rosain, Jeremie, Sasaki, Shinya, Chandrakasan, Shanmuganathan, Pachlopnik Schmid, Jana, Okano, Tsubasa, Colin, Estelle, Olaya-Vargas, Alberto, Yamazaki-Nakashimada, Marco, Qasim, Waseem, Espinosa Padilla, Sara, Jones, Andrea, Krol, Alfons, Cole, Nyree, Jolles, Stephen, Bleesing, Jack, Vraetz, Thomas, Gennery, Andrew R., Abinun, Mario, Güngör, Tayfun, Costa-Carvalho, Beatriz, Condino-Neto, Antonio, Veys, Paul, Holland, Steven M., Uzel, Gulbu, Moshous, Despina, Neven, Benedicte, Blanche, Stéphane, Ehl, Stephan, Döffinger, Rainer, Patel, Smita Y., Puel, Anne, Bustamante, Jacinta, Gelfand, Erwin W., Casanova, Jean-Laurent, Orange, Jordan S., and Picard, Capucine

Published
2017
Full Text
View/download PDF

4. IL-21 signalling via STAT3 primes human naïve B cells to respond to IL-2 to enhance their differentiation into plasmablasts

Author

Berglund, Lucinda J., Avery, Danielle T., Ma, Cindy S., Moens, Leen, Deenick, Elissa K., Bustamante, Jacinta, Boisson-Dupuis, Stephanie, Wong, Melanie, Adelstein, Stephen, Arkwright, Peter D., Bacchetta, Rosa, Bezrodnik, Liliana, Dadi, Harjit, Roifman, Chaim M., Fulcher, David A., Ziegler, John B., Smart, Joanne M., Kobayashi, Masao, Picard, Capucine, Durandy, Anne, Cook, Matthew C., Casanova, Jean-Laurent, Uzel, Gulbu, and Tangye, Stuart G.

Published
2013
Full Text
View/download PDF

5. Partial IFN-γR2 deficiency is due to protein misfolding and can be rescued by inhibitors of glycosylation

Author

Moncada-Vélez, Marcela, Martinez-Barricarte, Rubén, Bogunovic, Dusan, Kong, Xiao-Fei, Blancas-Galicia, Lizbeth, Tirpan, Cengiz, Aksu, Guzide, Vincent, Quentin B., Boisson, Bertrand, Itan, Yuval, Ramírez-Alejo, Noé, Okada, Satoshi, Kreins, Alexandra Y., Bryant, Vanessa L., Franco, Jose Luis, Migaud, Mélanie, Espinosa-Padilla, Sara, Yamazaki-Nakashimada, Marco, Espinosa-Rosales, Francisco, Kutukculer, Necil, Abel, Laurent, Bustamante, Jacinta, Vogt, Guillaume, Casanova, Jean-Laurent, and Boisson-Dupuis, Stéphanie

Published
2013
Full Text
View/download PDF

7. Functional STAT3 deficiency compromises the generation of human T follicular helper cells

Author

Ma, Cindy S., Avery, Danielle T., Chan, Anna, Batten, Marcel, Bustamante, Jacinta, Boisson-Dupuis, Stephanie, Arkwright, Peter D., Kreins, Alexandra Y., Averbuch, Diana, Engelhard, Dan, Magdorf, Klaus, Kilic, Sara S., Minegishi, Yoshiyuki, Nonoyama, Shigeaki, French, Martyn A., Choo, Sharon, Smart, Joanne M., Peake, Jane, Wong, Melanie, Gray, Paul, Cook, Matthew C., Fulcher, David A., Casanova, Jean-Laurent, Deenick, Elissa K., and Tangye, Stuart G.

Published
2012
Full Text
View/download PDF

8. New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein

Author

Hubeau, Marjorie, Ngadjeua, Flora, Puel, Anne, Israel, Laura, Feinberg, Jacqueline, Chrabieh, Maya, Belani, Kiran, Bodemer, Christine, Fabre, Isabelle, Plebani, Alessandro, Boisson-Dupuis, Stéphanie, Picard, Capucine, Fischer, Alain, Israel, Alain, Abel, Laurent, Veron, Michel, Casanova, Jean-Laurent, Agou, Fabrice, and Bustamante, Jacinta

Published
2011
Full Text
View/download PDF

9. A novel form of human STAT1 deficiency impairing early but not late responses to interferons

Author

Kong, Xiao-Fei, Ciancanelli, Michael, Al-Hajjar, Sami, Alsina, Laia, Zumwalt, Timothy, Bustamante, Jacinta, Feinberg, Jacqueline, Audry, Magali, Prando, Carolina, Bryant, Vanessa, Kreins, Alexandra, Bogunovic, Dusan, Halwani, Rabih, Zhang, Xin-Xin, Abel, Laurent, Chaussabel, Damien, Al-Muhsen, Saleh, Casanova, Jean-Laurent, and Boisson-Dupuis, Stéphanie

Published
2010
Full Text
View/download PDF

13. T-cell defects in patients with ARPC1Bgermline mutations account for combined immunodeficiency

Author

Brigida, Immacolata, Zoccolillo, Matteo, Cicalese, Maria Pia, Pfajfer, Laurène, Barzaghi, Federica, Scala, Serena, Oleaga-Quintas, Carmen, Álvarez-Álvarez, Jesus A., Sereni, Lucia, Giannelli, Stefania, Sartirana, Claudia, Dionisio, Francesca, Pavesi, Luca, Benavides-Nieto, Marta, Basso-Ricci, Luca, Capasso, Paola, Mazzi, Benedetta, Rosain, Jeremie, Marcus, Nufar, Lee, Yu Nee, Somech, Raz, Degano, Massimo, Raiola, Giuseppe, Caorsi, Roberta, Picco, Paolo, Moncada Velez, Marcela, Khourieh, Joelle, Arias, Andrés Augusto, Bousfiha, Aziz, Issekutz, Thomas, Issekutz, Andrew, Boisson, Bertrand, Dobbs, Kerry, Villa, Anna, Lombardo, Angelo, Neven, Benedicte, Moshous, Despina, Casanova, Jean-Laurent, Franco, José Luis, Notarangelo, Luigi D., Scielzo, Cristina, Volpi, Stefano, Dupré, Loïc, Bustamante, Jacinta, Gattorno, Marco, and Aiuti, Alessandro

Abstract

ARPC1B is a key factor for the assembly and maintenance of the ARP2/3 complex that is involved in actin branching from an existing filament. Germline biallelic mutations in ARPC1Bhave been recently described in 6 patients with clinical features of combined immunodeficiency (CID), whose neutrophils and platelets but not T lymphocytes were studied. We hypothesized that ARPC1B deficiency may also lead to cytoskeleton and functional defects in T cells. We have identified biallelic mutations in ARPC1Bin 6 unrelated patients with early onset disease characterized by severe infections, autoimmune manifestations, and thrombocytopenia. Immunological features included T-cell lymphopenia, low numbers of naïve T cells, and hyper–immunoglobulin E. Alteration in ARPC1B protein structure led to absent/low expression by flow cytometry and confocal microscopy. This molecular defect was associated with the inability of patient-derived T cells to extend an actin-rich lamellipodia upon T-cell receptor (TCR) stimulation and to assemble an immunological synapse. ARPC1B-deficient T cells additionally displayed impaired TCR-mediated proliferation and SDF1-α−directed migration. Gene transfer of ARPC1Bin patients' T cells using a lentiviral vector restored both ARPC1B expression and T-cell proliferation in vitro. In 2 of the patients, in vivo somatic reversion restored ARPC1B expression in a fraction of lymphocytes and was associated with a skewed TCR repertoire. In 1 revertant patient, memory CD8+T cells expressing normal levels of ARPC1B displayed improved T-cell migration. Inherited ARPC1B deficiency therefore alters T-cell cytoskeletal dynamics and functions, contributing to the clinical features of CID.

Published
2018
Full Text
View/download PDF

15. Impairment of IL-17 Immunity to Candidaand IFN-g Immunity to Mycobacteriumin Humans with Bi-Allelic Rorcmutations

Author

Okada, Satoshi, Markle, Janet, Kobayashi, Masao, Bustamante, Jacinta, and Casanova, Jean-Laurent

Abstract

Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis (CMC), which is characterized by infections of the skin, nails, oral and genital mucosae with Candida albicans. Inborn errors of human IFN-γ immunity underlie Mendelian susceptibility to mycobacterial disease (MSMD), a rare congenital disorder characterized by susceptibility to infections by poorly virulent intracellular pathogens such as Mycobacterium bovisBacille Calmette-Guérin vaccines (BCG) and non-tuberculosis Mycobacterium. Rarely, patients may be affected by both candidiasis and mycobacteriosis, including some patients with IL-12p40 and IL-12Rβ1 deficiencies that impair IFN-γ immunity and IL-17 immunity. We studied seven patients from three unrelated consanguineous kindreds with this unusual combination of infectious diseases without known genetic disorder. We combined whole exome sequencing and genome wide linkage analysis, and discovered bi-allelic loss-of-function mutations in RORC,which encodes the transcription factors RORγ and RORγT. All of the seven patients suffered from severe mycobacterial infections, and six also exhibited mild CMC. RORγT is the key transcription factor of Th17 cells, which produce IL-17 and IL-22. Therefore, as predicted by the mouse model, RORγT deficiency prevented the development of IL-17-producing T cells, which accounts for the patients' CMC. Consistent with the phenotype of Rorc-/-mice, these patients presented with mild T cell lymphopenia, small thymus, lack of palpable axillary and cervical lymph nodes, and absence of MAIT and iNKT cells.

Published
2015
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results