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A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency

author

Anastasia Bondarenko

Yuriy Stepanovskiy

Maria Teresa Herrera

Anne Puel

Jacinta Bustamante

1968 -

Fabienne Jabot-Hanin

1977 -

Jean-Laurent Casanova

1963 -

published in: Journal of Clinical Immunology

date of publication: 2018-07

language: English

main subject: Alu Elements, Histoplasma, Mycobacterium, Salmonella

Cites articles 62

Date

Title

Authors

2018-03-04

Laboratory evaluation of the IFN-γ circuit for the molecular diagnosis of Mendelian susceptibility to mycobacterial disease.

Laia Alsina, Ana Esteve-Sole, Jacinta Bustamante, Jean-Laurent Casanova, Ithaisa Sologuren, María Teresa Martínez-Saavedra, Carmen Oleaga-Quintas
2018-04-30

Microdeletion on chromosome 8p23.1 in a familial form of severe Buruli ulcer.

Laurent Abel, Lazaro Lorenzo, Jérémy Manry, Jean-Laurent Casanova, Laurent Marsollier
2017-09-01

IL12Rβ1 defect presenting with massive intra-abdominal lymphadenopathy due to Mycobacterium intracellulare infection

Serkan Atıcı, Safa Bariş, Caroline Deswarte, Jacinta Bustamante, Jean-Laurent Casanova
2017-04-13

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

Thais Louvain de Souza, Stephanie Boisson-Dupuis, Jacinta Bustamante, Enrique Medina-Acosta, João Tadeu Damian Souto Filho, Caroline Deswarte, Jean-Laurent Casanova
2017-05-17

Insertion of Alu elements at a PTEN hotspot in Cowden syndrome.
2017-06-06

A RAB27A duplication in several cases of Griscelli syndrome type 2: An explanation for cases lacking a genetic diagnosis

Capucine Picard, Geneviève de Saint Basile, Gael Ménasche, Christine Bôle-Feysot, Patrick Nitschké, Fernando E Sepulveda, Eman AlIdrissi, Nathalie Lambert
2017-07-28

First Association of Interleukin 12 Receptor Beta 1 Deficiency with Sjögren's Syndrome
2017-09-01

Severe Enteropathy and Hypogammaglobulinemia Complicating Refractory Mycobacterium tuberculosis Complex Disseminated Disease in a Child with IL-12Rβ1 Deficiency

Carmen Oleaga-Quintas, Jean-Laurent Casanova, Jacinta Bustamante, Andrés Augusto Arias
2017-10-12

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

Stephanie Boisson-Dupuis, Jacinta Bustamante, Jean-Laurent Casanova, Nevin Hatipoglu, Caroline Deswarte
2017-11-02

The UCSC Genome Browser database: 2018 update.

David Haussler, Mark Diekhans, Hiram Clawson, Ann S Zweig, Kate R. Rosenbloom, Jim Kent, Robert M. Kuhn, Brian J Raney, Galt Barber, Maximilian Haeussler
2017-12-18

Susceptibility to mycobacterial disease due to mutations in IL-12Rβ1 in three Iranian patients

Esther van de Vosse, Alireza Mahdaviani, Davood Mansouri, Payam Mehrian, Mohammad Varahram, Delara Babaie
2016-01-13

IL-12 receptor 1β deficiency with features of autoimmunity and photosensitivity
2016-04

Mechanisms underlying structural variant formation in genomic disorders

James R. Lupski
2016-02-01

Mendelian Susceptibility to Mycobacterial Disease due to IL-12Rβ1 Deficiency in Three Iranian Children

Zahra Pourpak, Jean-Laurent Casanova, Jacinta Bustamante, Shokouh Azam Sarrafzadeh, Maryam Mahloojirad
2016-04-24

Persistent nodal histoplasmosis in nuclear factor kappa B essential modulator deficiency: Report of a case and review of infection in primary immunodeficiencies

Amy P Hsu, Gulbu Uzel, Christa S Zerbe
2016-07-16

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

Ketil R. Heimdal, Francisco Espinosa-Rosales, William T. Shearer, Emily M. Mace, Tomasz Gambin, Alessandro Aiuti, Diana K Bayer, Eric Boerwinkle, Geir Erland Tjønnfjord, James R. Lupski, Tobias Gedde-Dahl, Tore G Abrahamsen, Richard A Gibbs, Donna Muzny, Christine M. Eng, Yaping Yang, John W. Belmont, Philip M. Boone, Mohammad K Eldomery, Yavuz Bayram, Asbjørg Stray-Pedersen, Zeynep Coban Akdemir, Wojciech Wiszniewski, Shalini Jhangiani, Jordan Orange, Ender Karaca, Magdalena A Walkiewicz, Hasibe Artac
2016-11-22

Visceral leishmaniasis in two patients with IL-12p40 and IL-12Rβ1 deficiencies

Stephanie Boisson-Dupuis, Jean-Laurent Casanova, Mélanie Migaud, Caroline Deswarte, Jacinta Bustamante
2016-01-01

Infectious diseases, autoimmunity and midline defect in a patient with a novel bi-allelic mutation in IL12RB1 gene

Carmen Oleaga-Quintas, Caroline Deswarte, Mélanie Migaud, Jacinta Bustamante, Jean-Laurent Casanova, Bahar Göktürk
2016-01-01

Clinical and genetic features of IL12Rb1 deficiency: Single center experience of 18 patients

Deniz Çagdas Ayvaz, Özlem Keskin
2015-06-25

Deregulation of Fas ligand expression as a novel cause of autoimmune lymphoproliferative syndrome-like disease

Bernhard Fleckenstein, Prasad Thomas Oommen, Andrea Hönscheid, Schafiq Nabhani, Sebastian Ginzel, Arndt Borkhardt
2015-05-01

Salmonella enteriditis inducing cutaneous leucocytoclasic vasculitis: An unusual complication in a patient with an interleukine- 12 receptor beta-1 deficiency
2015-12-01

Chronic mucocutaneous candidiasis: characterization of a family with STAT-1 gain-of-function and development of an ex-vivo assay for Th17 deficiency of diagnostic utility

Fatima Dhalla, Emma E Davenport, Consuelo Anzilotti, Pauline A van Schouwenburg, Julian C Knight, Smita Y Patel
2014-12

Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity

Jean-Laurent Casanova, Laurent Abel, Stephanie Boisson-Dupuis, Jacinta Bustamante
2014-12-13

IL12Rβ1: the cytokine receptor that we used to know

Richard T Robinson
2014-06-04

Recurrent Salmonellosis in a Child with Complete IL-12Rβ1 Deficiency

Mohammad Faizan Zahid, Stephanie Boisson-Dupuis, Jacinta Bustamante, Jean-Laurent Casanova
2013-03-01

Inherited IL-12p40 deficiency: genetic, immunologic, and clinical features of 49 patients from 30 kindreds

Capucine Picard, Jean-Laurent Casanova, Jacinta Bustamante, Stephanie Boisson-Dupuis, Aurélie Cobat, Rabih Halwani, Alireza Mahdaviani, Andrew Pollard
2013-03-14

Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain

James R. Lupski, Björn Menten
2013-04-22

BLAST: a more efficient report with usability improvements

Eric W Sayers
2013-10

IL-12Rβ1 deficiency: mutation update and description of the IL12RB1 variation database

Jean-Laurent Casanova, Francisco Espinosa-Rosales, Esther van de Vosse, Leopoldo Santos-Argumedo, Stephanie Boisson-Dupuis, Jacinta Bustamante, Juan I Arostegui, Özlem Keskin, Mónica Martínez-Gallo
2013-09-11

Molecular analysis for patients with IL-12 receptor β1 deficiency

Leopoldo Santos-Argumedo
2013-10-10

IL-12Rβ1 Deficiency and Disseminated Mycobacterium tilburgii Disease

Jean-Christophe Goffard, Jacinta Bustamante, Jean-Laurent Casanova, Jean-Cyr Yombi
2013-10-29

The Database of Genomic Variants: a curated collection of structural variation in the human genome

Jeffrey R MacDonald, Ryan Yuen, Stephen W. Scherer, Lars Feuk

Article - wd:Q62659239

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