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 novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease. Issue 2 (9th February 2007) Authors: Bustamante, Jacinta; Picard, Capucine; Fieschi, Claire; Filipe-Santos, Orchidée; Feinberg, Jacqueline; Perronne, Christian; Chapgier, Ariane; de Beaucoudrey, Ludovic; Vogt, Guillaume; Sanlaville, Damien; Lemainque, Arnaud; Emile, Jean-François; Abel, Laurent; Casanova, Jean-Laurent Journal: Journal of medical genetics Issue: Volume 44:Issue 2(2007) Page Start: e65 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 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) ↗
4. Accounting for genetic heterogeneity in homozygosity mapping: application to Mendelian susceptibility to mycobacterial disease. Issue 8 (14th May 2011) Authors: Grant, Audrey V; Boisson-Dupuis, Stéphanie; Herquelot, Eléonore; de Beaucoudrey, Ludovic; Filipe-Santos, Orchidée; Nolan, Daniel K; Feinberg, Jacqueline; Boland, Anne; Al-Muhsen, Saleh; Sanal, Ozden; Camcioglu, Yildiz; Palanduz, Ayse; Kilic, Sara Sebnem; Bustamante, Jacinta; Casanova, Jean-Lauren... Journal: Journal of medical genetics Issue: Volume 48:Issue 8(2011) Page Start: 567 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗
6. Autosomal recessive complete STAT1 deficiency caused by compound heterozygous intronic mutations. (30th June 2020) Authors: Sakata, Sonoko; Tsumura, Miyuki; Matsubayashi, Tadashi; Karakawa, Shuhei; Kimura, Shunsuke; Tamaura, Moe; Okano, Tsubasa; Naruto, Takuya; Mizoguchi, Yoko; Kagawa, Reiko; Nishimura, Shiho; Imai, Kohsuke; Le Voyer, Tom; Casanova, Jean-Laurent; Bustamante, Jacinta; Morio, Tomohiro; Ohara, Osamu; Kob... Journal: International immunology Issue: Volume 32:Number 10(2020) Page Start: 663 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Clinical and Genotypic Spectrum of Chronic Granulomatous Disease in 71 Latin American Patients: First Report from the LASID Registry. Issue 12 (15th July 2015) Authors: de Oliveira‐Junior, Edgar Borges; Zurro, Nuria Bengala; Prando, Carolina; Cabral‐Marques, Otavio; Pereira, Paulo Vitor Soeiro; Schimke, Lena‐Friederick; Klaver, Stefanie; Buzolin, Marcia; Blancas‐Galicia, Lizbeth; Santos‐Argumedo, Leopoldo; Pietropaolo‐Cienfuegos, Dino Roberto; Espinosa‐Rosales, ... Journal: Pediatric blood & cancer Issue: Volume 62:Issue 12(2015:Dec.) Page Start: 2101 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Detection of homozygous and hemizygous complete or partial exon deletions by whole-exome sequencing. (22nd May 2021) Authors: Bigio, Benedetta; Seeleuthner, Yoann; Kerner, Gaspard; Migaud, Mélanie; Rosain, Jérémie; Boisson, Bertrand; Nasca, Carla; Puel, Anne; Bustamante, Jacinta; Casanova, Jean-Laurent; Abel, Laurent; Cobat, Aurelie Journal: NAR genomics and bioinformatics Issue: Volume 3:issue 2(2021) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. 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) ↗
10. Disseminated Bacillus Calmette-Guérin Osteomyelitis in Twin Sisters Related to STAT1 Gene Deficiency. (June 2017) Authors: Boudjemaa, Sabah; Dainese, Linda; Héritier, Sébastien; Masserot, Caroline; Hachemane, Samia; Casanova, Jean-Laurent; Coulomb, Aurore; Bustamante, Jacinta Journal: Pediatric and developmental pathology Issue: Volume 20:Number 3(2017) Page Start: 255 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗