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1

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

Bustamante, Jacinta, Boisson-Dupuis, Stéphanie, Abel, Laurent, Casanova, Jean-Laurent

Journal:

Seminars in Immunology

Year:

2014

Language:

english

File:

PDF, 2.95 MB

english, 2014

2

Corrigendum to “Inborn errors of IL-12/23- and IFN-γ-mediated immunity: Molecular, cellular, and clinical features” [Semin. Immunol. 18 (2006) 347–361]

Orchidée Filipe-Santos, Jacinta Bustamante, Ariane Chapgier, Guillaume Vogt, Ludovic de Beaucoudrey, Jacqueline Feinberg, Emmanuelle Jouanguy, Stéphanie Boisson-Dupuis, Claire Fieschi, Capucine Picard

Journal:

Seminars in Immunology

Year:

2007

Language:

english

File:

PDF, 349 KB

english, 2007

3

Inborn errors of IL-12/23- and IFN-γ-mediated immunity: molecular, cellular, and clinical features

Orchidée Filipe-Santos, Jacinta Bustamante, Ariane Chapgier, Guillaume Vogt, Ludovic de Beaucoudrey, Jacqueline Feinberg, Emmanuelle Jouanguy, Stéphanie Boisson-Dupuis, Claire Fieschi, Capucine Picard

Journal:

Seminars in Immunology

Year:

2006

Language:

english

File:

PDF, 876 KB

english, 2006

4

Inborn errors of interferon (IFN)-mediated immunity in humans: insights into the respective roles of IFN-α/β, IFN-γ, and IFN-λ in host defense

Shen-Ying Zhang, Stéphanie Boisson-Dupuis, Ariane Chapgier, Kun Yang, Jacinta Bustamante, Anne Puel, Capucine Picard, Laurent Abel, Emmanuelle Jouanguy, Jean-Laurent Casanova

Journal:

Immunological Reviews

Year:

2008

Language:

english

File:

PDF, 200 KB

english, 2008

5

IRF8 Mutations and Human Dendritic-Cell Immunodeficiency

Hambleton, Sophie, Salem, Sandra, Bustamante, Jacinta, Bigley, Venetia, Boisson-Dupuis, Stéphanie, Azevedo, Joana, Fortin, Anny, Haniffa, Muzlifah, Ceron-Gutierrez, Lourdes, Bacon, Chris M., Menon, Ge

Journal:

Boston Medical and Surgical Journal

Year:

2011

Language:

english

File:

PDF, 1.15 MB

english, 2011

6

MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE IN EGYPTIAN CHILDREN

Galal, Nermeen, Boutros, Jeannette, Marsafy, Aisha, Kong, Xiao-Fei, Feinberg, Jacqueline, Casanova, Jean-Laurent, Boisson-Dupuis, Stéphanie, Bustamante, Jacinta

Journal:

Mediterranean Journal of Hematology and Infectious Diseases

Year:

2012

Language:

english

File:

PDF, 120 KB

english, 2012

7

Paternal uniparental isodisomy of chromosome 6 causing a complex syndrome including complete IFN-γ receptor 1 deficiency

Carolina Prando, Stéphanie Boisson-Dupuis, Audrey V. Grant, Xiao-Fei Kong, Jacinta Bustamante, Jacqueline Feinberg, Ariane Chapgier, Yoann Rose, Lucile Jannière, Elena Rizzardi, Qiuping Zhang, Catheri

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 219 KB

english, 2010

8

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

Hatipoglu, Nevin, Güvenç, B. Haluk, Deswarte, Caroline, Koksalan, Kaya, Boisson-Dupuis, Stéphanie, Casanova, Jean-Laurent, Bustamante, Jacinta

Journal:

Year:

2017

Language:

english

File:

PDF, 812 KB

english, 2017

9

Septins Regulate Bacterial Entry into Host Cells

Mostowy, Serge, Nam Tham, To, Danckaert, Anne, Guadagnini, Stéphanie, Boisson-Dupuis, Stéphanie, Pizarro-Cerdá, Javier, Cossart, Pascale, Valdivia, Raphael H.

Journal:

Year:

2009

Language:

english

File:

PDF, 960 KB

english, 2009

10

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

Parvaneh, Nima, Barlogis, Vincent, Alborzi, Abdolvahab, Deswarte, Caroline, Boisson-Dupuis, Stéphanie, Migaud, Mélanie, Farnaria, Catherine, Markle, Janet, Parvaneh, Leila, Casanova, Jean-Laurent, Bus

Journal:

Pediatric Blood & Cancer

Year:

2016

Language:

english

File:

PDF, 287 KB

english, 2016

11

Bacillus Calmette Guérin triggers the IL-12/IFN-γ axis by an IRAK-4- and NEMO-dependent, non-cognate interaction between monocytes, NK, and T lymphocytes

Jacqueline Feinberg, Claire Fieschi, Rainer Doffinger, Max Feinberg, Tony Leclerc, Stéphanie Boisson-Dupuis, Capucine Picard, Jacinta Bustamante, Ariane Chapgier, Orchidée Filipe-Santos, Cheng-Lung Ku

Journal:

European Journal of Immunology

Year:

2004

Language:

english

File:

PDF, 240 KB

english, 2004

12

Human primary immunodeficiencies of type I interferons

Emmanuelle Jouanguy, Shen-Ying Zhang, Ariane Chapgier, Vanessa Sancho-Shimizu, Anne Puel, Capucine Picard, Stéphanie Boisson-Dupuis, Laurent Abel, Jean-Laurent Casanova

Journal:

Year:

2007

Language:

english

File:

PDF, 244 KB

english, 2007

13

A Patient with Tyrosine Kinase 2 Deficiency without Hyper-IgE Syndrome

Sara S. Kilic, Mustafa Hacimustafaoglu, Stéphanie Boisson-Dupuis, Alexandra Y. Kreins, Audrey V. Grant, Laurent Abel, Jean-Laurent Casanova

Journal:

The Journal of Pediatrics

Year:

2012

Language:

english

File:

PDF, 168 KB

english, 2012

14

Lethal Tuberculosis in a Previously Healthy Adult with IL-12 Receptor Deficiency

Payam Tabarsi, Majid Marjani, Nahal Mansouri, Parisa Farnia, Stephanie Boisson-Dupuis, Jacinta Bustamante, Laurent Abel, Parisa Adimi, Jean-Laurent Casanova, Davood Mansouri

Journal:

Journal of Clinical Immunology

Year:

2011

Language:

english

File:

PDF, 146 KB

english, 2011

15

Inherited and acquired immunodeficiencies underlying tuberculosis in childhood

Boisson-Dupuis, Stéphanie, Bustamante, Jacinta, El-Baghdadi, Jamila, Camcioglu, Yildiz, Parvaneh, Nima, El Azbaoui, Safaa, Agader, Aomar, Hassani, Amal, El Hafidi, Naima, Mrani, Nidal Alaoui, Jouhadi,

Journal:

Immunological Reviews

Year:

2015

Language:

english

File:

PDF, 408 KB

english, 2015

16

A New Patient with Inherited TYK2 Deficiency

Sarrafzadeh, Shokouh Azam, Mahloojirad, Maryam, Casanova, Jean-Laurent, Badalzadeh, Mohsen, Bustamante, Jacinta, Boisson-Dupuis, Stephanie, Pourpak, Zahra, Nourizadeh, Maryam, Moin, Mostafa

Journal:

Journal of Clinical Immunology

Year:

2019

Language:

english

File:

PDF, 554 KB

english, 2019

17

Signal transducer and activator of transcription 3 (STAT3) mutations underlying autosomal dominant hyper-IgE syndrome impair human CD8+ T-cell memory formation and function

Ives, Megan L., Ma, Cindy S., Palendira, Umaimainthan, Chan, Anna, Bustamante, Jacinta, Boisson-Dupuis, Stephanie, Arkwright, Peter D., Engelhard, Dan, Averbuch, Diana, Magdorf, Klaus, Roesler, Joachi

Journal:

Journal of Allergy and Clinical Immunology

Year:

2013

Language:

english

File:

PDF, 4.36 MB

english, 2013

18

Treatment of Disseminated Mycobacterial Infection with High-Dose IFN- γ in a Patient with IL-12R β 1 Deficiency

Alangari, Abdullah A., Al-Zamil, Fahad, Al-Mazrou, Abdulrahman, Al-Muhsen, Saleh, Boisson-Dupuis, Stéphanie, Awadallah, Sitalbanat, Kambal, Abdelmageed, Casanova, Jean-Laurent

Journal:

Clinical & Developmental Immunology

Year:

2011

Language:

english

File:

PDF, 119 KB

english, 2011

19

Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations

Vogt, Guillaume, Chapgier, Ariane, Yang, Kun, Chuzhanova, Nadia, Feinberg, Jacqueline, Fieschi, Claire, Boisson-Dupuis, Stéphanie, Alcais, Alexandre, Filipe-Santos, Orchidée, Bustamante, Jacinta

Journal:

Nature Genetics

Year:

2005

Language:

english

File:

PDF, 559 KB

english, 2005

20

Major loci on chromosomes 8q and 3q control BCG- and ESAT-6 triggered IFN-γ production, respectively, in various populations

Jabot-Hanin, Fabienne, Cobat, Aurélie, Feinberg, Jacqueline, Grange, Ghislain, Remus, Natascha, Poirier, Christine, Boland-Auge, Anne, Besse, Céline, Bustamante, Jacinta, Boisson-Dupuis, Stéphanie, Ca

Journal:

The Journal of Infectious Diseases

Year:

2015

Language:

english

File:

PDF, 769 KB

english, 2015

21

Novel STAT1 Alleles in Otherwise Healthy Patients with Mycobacterial Disease

Chapgier, Ariane, Boisson-Dupuis, Stéphanie, Jouanguy, Emmanuelle, Vogt, Guillaume, Feinberg, Jacqueline, Prochnicka-Chalufour, Ada, Casrouge, Armanda, Yang, Kun, Soudais, Claire, Fieschi, Claire, San

Journal:

Year:

2006

Language:

english

File:

PDF, 552 KB

english, 2006

22

Granulomatous skin lesions, severe scrotal and lower limb edema due to mycobacterial infections in a child with complete IFN-γ receptor-1 deficiency

Edeer Karaca, Neslihan, Boisson-Dupuis, Stephanie, Aksu, Güzide, Bustamante, Jacinta, Kandiloglu, Gulsen, Ozsan, Nazan, Hekimgil, Mine, Casanova, Jean-Laurent, Kutukculer, Necil

Journal:

Year:

2012

Language:

english

File:

PDF, 1.64 MB

english, 2012

23

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

Jabot-Hanin, Fabienne, Cobat, Aurélie, Feinberg, Jacqueline, Orlova, Marianna, Niay, Jonathan, Deswarte, Caroline, Poirier, Christine, Theodorou, Ioannis, Bustamante, Jacinta, Boisson-Dupuis, Stéphani

Journal:

Scientific Reports

Year:

2017

Language:

english

File:

PDF, 1.32 MB

english, 2017

24

Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases

Jacinta Bustamante, Capucine Picard, Stéphanie Boisson-Dupuis, Laurent Abel, Jean-Laurent Casanova

Journal:

Annals of the New York Academy of Sciences

Year:

2011

Language:

english

File:

PDF, 595 KB

english, 2011

25

HGCS: an online tool for prioritizing disease-causing gene variants by biological distance

Itan, Yuval, Mazel, Mark, Mazel, Benjamin, Abhyankar, Avinash, Nitschke, Patrick, Quintana-Murci, Lluis, Boisson-Dupuis, Stephanie, Boisson, Bertrand, Abel, Laurent, Zhang, Shen-Ying, Casanova, Jean-L

Journal:

Year:

2014

Language:

english

File:

PDF, 651 KB

english, 2014

26

Tuberculosis and impaired IL-23–dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant

Boisson-Dupuis, Stéphanie, Ramirez-Alejo, Noe, Li, Zhi, Patin, Etienne, Rao, Geetha, Kerner, Gaspard, Lim, Che Kang, Krementsov, Dimitry N., Hernandez, Nicholas, Ma, Cindy S., Zhang, Qian, Markle, Jan

Journal:

Science Immunology

Year:

2018

Language:

english

File:

PDF, 1.91 MB

english, 2018

27

Novel primary immunodeficiencies revealed by the investigation of paediatric infectious diseases

Jacinta Bustamante, Stéphanie Boisson-Dupuis, Emmanuelle Jouanguy, Capucine Picard, Anne Puel, Laurent Abel, Jean-Laurent Casanova

Journal:

Current Opinion in Immunology

Year:

2008

Language:

english

File:

PDF, 667 KB

english, 2008

28

Les mutations « gain de glycosylation »

Vogt, Guillaume, Chapgier, Ariane, Chuzhanova, Nadia, Feinberg, Jacqueline, Fieschi, Claire, Boisson-Dupuis, Stephanie, Alcais, Alexandre, Abel, Laurent, Cooper, David N., Casanova, Jean-Laurent

Journal:

médecine/sciences

Year:

2006

File:

PDF, 186 KB

2006

29

ARHGAP10 is necessary for α-catenin recruitment at adherens junctions and for Listeria invasion

Sousa, Sandra, Cabanes, Didier, Archambaud, Cristel, Colland, Frédéric, Lemichez, Emmanuel, Popoff, Michel, Boisson-Dupuis, Stéphanie, Gouin, Edith, Lecuit, Marc, Legrain, Pierre

Journal:

Nature Cell Biology

Year:

2005

Language:

english

File:

PDF, 1.71 MB

english, 2005

30

SUCCESSFUL HEMATOPOIETIC STEM CELL TRANSPLANTATION FROM AN UNRELATED DONOR IN A CHILD WITH INTERFERON GAMMA RECEPTOR DEFICIENCY

Moilanen, Petra, Korppi, Matti, Hovi, Liisa, Chapgier, Ariane, Feinberg, Jacqueline, Kong, Xiao-Fei, Boisson-Dupuis, Stéphanie, Arola, Mikko, Casanova, Jean-Laurent, Saarinen-Pihkala, Ulla M.

Journal:

Pediatric Infectious Disease Journal

Year:

2009

Language:

english

File:

PDF, 93 KB

english, 2009

31

Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation

Guillaume Vogt, Jacinta Bustamante, Ariane Chapgier, Jacqueline Feinberg, Stephanie Boisson-Dupuis, Capucine Picard, Nizar Mahlaoui, Laure Gineau, Alexandre Alcaïs, Christophe Lamaze, Jennifer M. Puck

Journal:

Journal of Biotechnology

Year:

2008

Language:

english

File:

PDF, 315 KB

english, 2008

32

Mendelian susceptibility to mycobacterial disease: 2014-2018 update

Rosain, Jérémie, Kong, Xiao-Fei, Martinez-Barricarte, Ruben, Oleaga-Quintas, Carmen, Ramirez-Alejo, Noé, Markle, Janet, Okada, Satoshi, Boisson-Dupuis, Stéphanie, Casanova, Jean-Laurent, Bustamante, J

Journal:

Immunology & Cell Biology

Year:

2018

Language:

english

File:

PDF, 725 KB

english, 2018

33

Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy

Okada, Satoshi, Asano, Takaki, Moriya, Kunihiko, Boisson-Dupuis, Stephanie, Kobayashi, Masao, Casanova, Jean-Laurent, Puel, Anne

Journal:

Journal of Clinical Immunology

Year:

2020

File:

PDF, 949 KB

2020

34

Primary immunodeficiencies of protective immunity to primary infections

Aziz Bousfiha, Capucine Picard, Stéphanie Boisson-Dupuis, Shen-Ying Zhang, Jacinta Bustamante, Anne Puel, Emmanuelle Jouanguy, Fatima Ailal, Jamila El-Baghdadi, Laurent Abel, Jean-Laurent Casanova

Journal:

Clinical Immunology

Year:

2010

Language:

english

File:

PDF, 176 KB

english, 2010

35

Revisiting Human IL-12Rβ1 Deficiency

de Beaucoudrey, Ludovic, Samarina, Arina, Bustamante, Jacinta, Cobat, Aurélie, Boisson-Dupuis, Stéphanie, Feinberg, Jacqueline, Al-Muhsen, Saleh, Jannière, Lucile, Rose, Yoann, de Suremain, Maylis, Ko

Journal:

Medicine (Williams & Wilkins)

Year:

2010

File:

PDF, 3.09 MB

2010

36

Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes

Stephanie Boisson-Dupuis, Xiao-Fei Kong, Satoshi Okada, Sophie Cypowyj, Anne Puel, Laurent Abel, Jean-Laurent Casanova

Journal:

Current Opinion in Immunology

Year:

2012

Language:

english

File:

PDF, 1.58 MB

english, 2012

37

ISG15: leading a double life as a secreted molecule

Bogunovic, Dusan, Boisson-Dupuis, Stéphanie, Casanova, Jean-Laurent

Journal:

Experimental and Molecular Medicine

Year:

2013

Language:

english

File:

PDF, 1.36 MB

english, 2013

38

THE CLINICAL SPECTRUM OF PATIENTS WITH DEFICIENCY OF SIGNAL TRANSDUCER AND ACTIVATOR OF TRANSCRIPTION-1

Averbuch, Diana, Chapgier, Ariane, Boisson-Dupuis, Stéphanie, Casanova, Jean-Laurent, Engelhard, Dan

Journal:

Pediatric Infectious Disease Journal

Year:

2011

Language:

english

File:

PDF, 991 KB

english, 2011

39

Homozygosity for TYK2 P1104A underlies tuberculosis in about 1% of patients in a cohort of European ancestry

Kerner, Gaspard, Ramirez-Alejo, Noe, Seeleuthner, Yoann, Yang, Rui, Ogishi, Masato, Cobat, Aurélie, Patin, Etienne, Quintana-Murci, Lluis, Boisson-Dupuis, Stéphanie, Casanova, Jean-Laurent, Abel, Laur

Journal:

Proceedings of the National Academy of Sciences

Year:

2019

File:

PDF, 626 KB

2019

40

IL-12Rβ1 Deficiency in Two of Fifty Children with Severe Tuberculosis from Iran, Morocco, and Turkey

Boisson-Dupuis, Stéphanie, El Baghdadi, Jamila, Parvaneh, Nima, Bousfiha, Aziz, Bustamante, Jacinta, Feinberg, Jacqueline, Samarina, Arina, Grant, Audrey V., Janniere, Lucile, El Hafidi, Naima, Hassan

Journal:

Year:

2011

Language:

english

File:

PDF, 352 KB

english, 2011

41

Inherited IL-12p40 Deficiency

Prando, Carolina, Samarina, Arina, Bustamante, Jacinta, Boisson-Dupuis, Stéphanie, Cobat, Aurelie, Picard, Capucine, AlSum, Zobaida, Al-Jumaah, Suliman, Al-Hajjar, Sami, Frayha, Husn, Al-Mousa, Hamoud

Journal:

Medicine (Williams & Wilkins)

Year:

2013

Language:

english

File:

PDF, 1.71 MB

english, 2013

42

AD Hyper-IgE Syndrome Due to a Novel Loss-of-Function Mutation inSTAT3: a Diagnostic Pursuit Won by Clinical Acuity

Moens, Leen, Schaballie, Heidi, Bosch, Barbara, Voet, Arnout, Bossuyt, Xavier, Casanova, Jean-Laurent, Boisson-Dupuis, Stephanie, Tangye, Stuart G., Meyts, Isabelle

Journal:

Journal of Clinical Immunology

Year:

2017

Language:

english

File:

PDF, 1.41 MB

english, 2017

43

The monogenic basis of human tuberculosis

Boisson-Dupuis, Stephanie

Journal:

Year:

2020

File:

PDF, 587 KB

2020

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