1. A novel variant in the neutrophil cytosolic factor 2 (NCF2) gene results in severe disseminated BCG infectious disease: A clinical report and literature review. Issue 6 (12th April 2020) Authors: AlKhater, Suzan A.; Deswarte, Caroline; Casanova, Jean‐Laurent; Bustamante, Jacinta Journal: Molecular genetics & genomic medicine Issue: Volume 8:Issue 6(2020) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon. (17th October 2018) Authors: 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; Boi... Journal: Human molecular genetics Issue: Volume 28:Number 3(2019) Page Start: 524 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. An eQTL variant of ZXDC is associated with IFN-γ production following Mycobacterium tuberculosis antigen-specific stimulation. Issue 1 (December 2017) Authors: 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; Delacourt, Christophe; Schurr, Erwin;... Journal: Scientific reports Issue: Volume 7:Issue 1(2017) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clonal haematopoiesis is increased in early onset in systemic sclerosis. (5th August 2020) Authors: Ricard, Laure; Hirsch, Pierre; Largeaud, Laëtitia; Deswarte, Caroline; Jachiet, Vincent; Mohty, Mohamad; Rivière, Sébastien; Malard, Florent; Tenon, Maxime; de Vassoigne, Frédéric; Fain, Olivier; Gaugler, Béatrice; Rossignol, Julien; Delhommeau, François; Mekinian, Arsène Journal: Rheumatology Issue: Volume 59:Number 11(2020) Page Start: 3499 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Diagnostic and therapeutic challenges in a child with complete interferon‐γ receptor 1 deficiency. Issue 11 (14th July 2015) Authors: Olbrich, Peter; Martínez‐Saavedra, Maria Teresa; Perez‐Hurtado, José Maria; Sanchez, Cristina; Sanchez, Berta; Deswarte, Caroline; Obando, Ignacio; Casanova, Jean‐Laurent; Speckmann, Carsten; Bustamante, Jacinta; Rodriguez‐Gallego, Carlos; Neth, Olaf Journal: Pediatric blood & cancer Issue: Volume 62:Issue 11(2015:Nov.) Page Start: 2036 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Interleukin‐18 produced by bone marrow‐derived stromal cells supports T‐cell acute leukaemia progression. Issue 6 (28th April 2014) Authors: 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, Véroni... Journal: EMBO molecular medicine Issue: Volume 6:Issue 6(2014:Jun.) Page Start: 821 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Prognostic impact of early minimal residual disease combined with complete molecular evaluation in acute myeloid leukemia with mutated NPM1: a single center study. Issue 9 (29th July 2022) Authors: Memoli, Mara; Genthon, Alexis; Favale, Fabrizia; Lapusan, Simona; Johnson, Natacha; Adaeva, Rosa; Deswarte, Caroline; Battipaglia, Giorgia; Malard, Florent; Duléry, Rémy; Brissot, Eolia; Banet, Anne; Van de Wyngaert, Zoé; Mohty, Mohamad; Delhommeau, François; Legrand, Ollivier; Hirsch, Pierre Journal: Leukemia & lymphoma Issue: Volume 63:Issue 9(2022) Page Start: 2171 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Visceral leishmaniasis in two patients with IL‐12p40 and IL‐12Rβ1 deficiencies. Issue 6 (22nd November 2016) Authors: Parvaneh, Nima; Barlogis, Vincent; Alborzi, Abdolvahab; Deswarte, Caroline; Boisson‐Dupuis, Stéphanie; Migaud, Mélanie; Farnaria, Catherine; Markle, Janet; Parvaneh, Leila; Casanova, Jean‐Laurent; Bustamante, Jacinta Journal: Pediatric blood & cancer Issue: Volume 64:Issue 6(2017) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗