A novel variant in the neutrophil cytosolic factor 2 (NCF2) gene results in severe disseminated BCG infectious disease: A clinical report and literature review

מאת AlKhater, Suzan A., Deswarte, Caroline, Casanova, Jean‐Laurent, Bustamante, Jacinta
הוצא לאור ב Mol Genet Genomic Med (2020)

Inherited IL-12Rβ1 Deficiency in a Child With BCG Adenitis and Oral Candidiasis: A Case Report

מאת Hatipoglu, Nevin, Güvenç, B. Haluk, Deswarte, Caroline, Koksalan, Kaya, Boisson-Dupuis, Stéphanie, Casanova, Jean-Laurent, Bustamante, Jacinta
הוצא לאור ב Pediatrics (2017)

MAIZEWALL. Database and Developmental Gene Expression Profiling of Cell Wall Biosynthesis and Assembly in Maize

מאת Guillaumie, Sabine, San-Clemente, Hélène, Deswarte, Caroline, Martinez, Yves, Lapierre, Catherine, Murigneux, Alain, Barrière, Yves, Pichon, Magalie, Goffner, Deborah
יצא לאור 2007

Phagocyte NADPH oxidase activity in patients with inherited IFN-γR1 or IFN-γR2 deficiency

מאת Conti, Francesca, Filho, Walmir Cutrim Aragão, Prando, Carolina, Deswarte, Caroline, Hubeau, Marjorie, Newburger, Peter E., Casanova, Jean-Laurent, Bustamante, Jacinta, Condino-Neto, Antonio
הוצא לאור ב J Allergy Clin Immunol (2014)

IFN-γ and CD25 drive distinct pathological features during hemophagocytic lymphohistiocytosis

מאת Humblet-Baron, Stéphanie, Franckaert, Dean, Dooley, James, Ailal, Fatima, Bousfiha, Aziz, Deswarte, Caroline, Oleaga-Quintas, Carmen, Casanova, Jean-Laurent, Bustamante, Jacinta, Liston, Adrian
הוצא לאור ב J Allergy Clin Immunol (2018)

LINE-1-mediated AluYa5 insertion underlying complete autosomal recessive IFN-γR1 deficiency

מאת Rosain, Jérémie, Deswarte, Caroline, Hancioglu, Gonca, Oleaga-Quintas, Carmen, Kutlug, Seyhan, Kartal, Ibrahim, Kuzu, Isinsu, Toullec, Laurie, Tusseau, Maud, Casanova, Jean-Laurent, Yildiran, Alisan, Bustamante, Jacinta
הוצא לאור ב J Clin Immunol (2019)

Thrombocytopenia-associated mutations in the ANKRD26 regulatory region induce MAPK hyperactivation

מאת Bluteau, Dominique, Balduini, Alessandra, Balayn, Nathalie, Currao, Manuela, Nurden, Paquita, Deswarte, Caroline, Leverger, Guy, Noris, Patrizia, Perrotta, Silverio, Solary, Eric, Vainchenker, William, Debili, Najet, Favier, Remi, Raslova, Hana
יצא לאור 2014

Multifocal Recurrent Osteomyelitis and Hemophagocytic Lymphohistiocytosis in a Boy with Partial Dominant IFN-γR1 Deficiency: Case Report and Review of the Literature

מאת Staines-Boone, Aidé Tamara, Deswarte, Caroline, Venegas Montoya, Edna, Sánchez-Sánchez, Luz María, García Campos, Jorge Alberto, Muñiz-Ronquillo, Teodoro, Bustamante, Jacinta, Espinosa-Rosales, Francisco J., Lugo Reyes, Saul Oswaldo
הוצא לאור ב Front Pediatr (2017)

Homeobox protein TLX3 activates miR-125b expression to promote T-cell acute lymphoblastic leukemia

מאת Renou, Laurent, Boelle, Pierre-Yves, Deswarte, Caroline, Spicuglia, Salvatore, Benyoucef, Aissa, Calvo, Julien, Uzan, Benjamin, Belhocine, Mohamed, Cieslak, Agata, Landman-Parker, Judith, Baruchel, Andre, Asnafi, Vahid, Pflumio, Françoise, Ballerini, Paola, Naguibneva, Irina
הוצא לאור ב Blood Adv (2017)

High prevalence of clonal hematopoiesis in the blood and bone marrow of healthy volunteers

מאת Guermouche, Hélène, Ravalet, Noémie, Gallay, Nathalie, Deswarte, Caroline, Foucault, Amelie, Beaud, Jenny, Rault, Emmanuelle, Saindoy, Emeline, Lachot, Sébastien, Martignoles, Jean-Alain, Gissot, Valérie, Suner, Ludovic, Gyan, Emmanuel, Delhommeau, François, Herault, Olivier, Hirsch, Pierre
הוצא לאור ב Blood Adv (2020)

An eQTL variant of ZXDC is associated with IFN-γ production following Mycobacterium tuberculosis antigen-specific stimulation

מאת Jabot-Hanin, Fabienne, Cobat, Aurélie, Feinberg, Jacqueline, Orlova, Marianna, Niay, Jonathan, Deswarte, Caroline, Poirier, Christine, Theodorou, Ioannis, Bustamante, Jacinta, Boisson-Dupuis, Stéphanie, Casanova, Jean-Laurent, Alcaïs, Alexandre, Hoal, Eileen G., Delacourt, Christophe, Schurr, Erwin, Abel, Laurent
הוצא לאור ב Sci Rep (2017)

Pott’s disease in Moroccan children: Clinical features and investigation of the IL-12/IFN-γ pathway

מאת el Azbaoui, Safa, Mrani, Nidal Alaoui, Sabri, Ayoub, Jouhadi, Zineb, Ailal, Fatima, Bousfiha, Ahmed Aziz, Najib, Jilali, Hafidi, Naima El, Deswarte, Caroline, Schurr, Erwin, Bustamante, Jacinta, Boisson-Dupuis, Stéphanie, Casanova, Jean-Laurent, Abel, Laurent, Baghdadi, Jamila EL
הוצא לאור ב Int J Tuberc Lung Dis (2015)

Impaired IL-12- and IL-23-Mediated Immunity due to IL-12Rβ1 deficiency in Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease

מאת Nekooie-Marnany, Nioosha, Deswarte, Caroline, Ostadi, Vajiheh, Bagherpour, Bahram, Taleby, Elaheh, Ganjalikhani Hakemi, Mazdak, Voyer, Tom Le, Rahimi, Hamid, Rosain, Jérémie, Pourmoghadas, Zahra, Sheikhbahaei, Saba, Khoshnevisan, Razieh, Petersheim, Daniel, Kotlarz, Daniel, Klein, Christoph, Boisson-Dupuis, Stéphanie, Casanova, Jean-Laurent, Bustamante, Jacinta, Sherkat, Roya
הוצא לאור ב J Clin Immunol (2018)

Interleukin-18 produced by bone marrow-derived stromal cells supports T-cell acute leukaemia progression

מאת Uzan, Benjamin, Poglio, Sandrine, Gerby, Bastien, Wu, Ching-Lien, Gross, Julia, Armstrong, Florence, Calvo, Julien, Cahu, Xavier, Deswarte, Caroline, Dumont, Florent, Passaro, Diana, Besnard-Guérin, Corinne, Leblanc, Thierry, Baruchel, André, Landman-Parker, Judith, Ballerini, Paola, Baud, Véronique, Ghysdael, Jacques, Baleydier, Frédéric, Porteu, Francoise, Pflumio, Francoise
יצא לאור 2014

Association Study of Genes Controlling IL-12-dependent IFN-γ Immunity: STAT4 Alleles Increase Risk of Pulmonary Tuberculosis in Morocco

מאת Sabri, Ayoub, Grant, Audrey V., Cosker, Kristel, El Azbaoui, Safa, Abid, Ahmed, Abderrahmani Rhorfi, Ismail, Souhi, Hicham, Janah, Hicham, Alaoui-Tahiri, Kebir, Gharbaoui, Yasser, Benkirane, Majid, Orlova, Marianna, Boland, Anne, Deswarte, Caroline, Migaud, Melanie, Bustamante, Jacinta, Schurr, Erwin, Boisson-Dupuis, Stephanie, Casanova, Jean-Laurent, Abel, Laurent, El Baghdadi, Jamila
יצא לאור 2014

Microbial Disease Spectrum Linked to a Novel IL-12Rβ1 N-Terminal Signal Peptide Stop-Gain Homozygous Mutation with Paradoxical Receptor Cell-Surface Expression

מאת Louvain de Souza, Thais, de Souza Campos Fernandes, Regina C., Azevedo da Silva, Juliana, Gomes Alves Júnior, Vladimir, Gomes Coelho, Adelia, Souza Faria, Afonso C., Moreira Salomão Simão, Nabia M., Souto Filho, João T., Deswarte, Caroline, Boisson-Dupuis, Stéphanie, Torgerson, Dara, Casanova, Jean-Laurent, Bustamante, Jacinta, Medina-Acosta, Enrique
הוצא לאור ב Front Microbiol (2017)

A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon

מאת Oleaga-Quintas, Carmen, Deswarte, Caroline, Moncada-Vélez, Marcela, Metin, Ayse, Krishna Rao, Indumathi, Kanık-Yüksek, Saliha, Nieto-Patlán, Alejandro, Guérin, Antoine, Gülhan, Belgin, Murthy, Savita, Özkaya-Parlakay, Aslınur, Abel, Laurent, Martínez-Barricarte, Rubén, Pérez de Diego, Rebeca, Boisson-Dupuis, Stéphanie, Kong, Xiao-Fei, Casanova, Jean-Laurent, Bustamante, Jacinta
הוצא לאור ב Hum Mol Genet (2018)

A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon

מאת Oleaga-Quintas, Carmen, Deswarte, Caroline, Moncada-Vélez, Marcela, Metin, Ayse, Krishna Rao, Indumathi, Kanık-Yüksek, Saliha, Nieto-Patlán, Alejandro, Guérin, Antoine, Gülhan, Belgin, Murthy, Savita, Özkaya-Parlakay, Aslınur, Abel, Laurent, Martínez-Barricarte, Rubén, Pérez de Diego, Rebeca, Boisson-Dupuis, Stéphanie, Kong, Xiao-Fei, Casanova, Jean-Laurent, Bustamante, Jacinta
הוצא לאור ב Hum Mol Genet (2019)

Mycobacterium simiae infection in two unrelated patients with different forms of inherited IFN-γR2 deficiency

מאת Martínez-Barricarte, Rubén, Megged, Orli, Stepensky, Polina, Casimir, Pierre, Moncada-Velez, Marcela, Averbuch, Diana, Assous, Marc Victor, Abuzaitoun, Omar, Kong, Xiao-Fei, Pedergnana, Vincent, Deswarte, Caroline, Migaud, Mélanie, Rose-John, Stefan, Itan, Yuval, Boisson, Bertrand, Belkadi, Aziz, Conti, Francesca, Abel, Laurent, Vogt, Guillaume, Boisson-Dupuis, Stephanie, Casanova, Jean-Laurent, Bustamante, Jacinta
הוצא לאור ב J Clin Immunol (2014)

Mendelian susceptibility to mycobacterial disease caused by a novel founder IL12B mutation in Saudi Arabia

מאת Alodayani, Abdulrahman N., Al-Otaibi, Abdulnasir M., Deswarte, Caroline, Frayha, Husn Habib, Bouaziz, Matthieu, AlHelale, Maryam, Le Voyer, Tom, Nieto-Patlan, Alejandro, Rattina, Vimel, AlZahrani, Mofareh, Halwani, Rabih, Al Sohime, Fahad, Al-Mousa, Hamoud, Al-Muhsen, Saleh, Alhajjar, Sami H., Dhayhi, Nabil S., Abel, Laurent, Casanova, Jean-Laurent, Bin-Hussain, Ibrahim, AlBarrak, May S., Al-Jumaah, Suliman A., Bustamante, Jacinta
הוצא לאור ב J Clin Immunol (2018)