Showing 1–21 of 21 results
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Research | | Open
Early-onset autoimmunity associated with SOCS1 haploinsufficiency
- Jérôme Hadjadj
- , Carla Noemi Castro
- , Maud Tusseau
- , Marie-Claude Stolzenberg
- , Fabienne Mazerolles
- , Nathalie Aladjidi
- , Martin Armstrong
- , Houman Ashrafian
- , Ioana Cutcutache
- , Georg Ebetsberger-Dachs
- , Katherine S. Elliott
- , Isabelle Durieu
- , Nicole Fabien
- , Mathieu Fusaro
- , Maximilian Heeg
- , Yohan Schmitt
- , Marc Bras
- , Julian C. Knight
- , Jean-Christophe Lega
- , Gaetan Lesca
- , Anne-Laure Mathieu
- , Marion Moreews
- , Baptiste Moreira
- , Audrey Nosbaum
- , Matthew Page
- , Cécile Picard
- , T. Ronan Leahy
- , Isabelle Rouvet
- , Ethel Ryan
- , Damien Sanlaville
- , Klaus Schwarz
- , Andrew Skelton
- , Jean-Francois Viallard
- , Sebastien Viel
- , Marine Villard
- , Isabelle Callebaut
- , Capucine Picard
- , Thierry Walzer
- , Stephan Ehl
- , Alain Fischer
- , Bénédicte Neven
- , Alexandre Belot
- & Frédéric Rieux-Laucat
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Amendments and Corrections |
Correction: Corrigendum: Evidence of innate lymphoid cell redundancy in humans
- Frédéric Vély
- , Vincent Barlogis
- , Blandine Vallentin
- , Bénédicte Neven
- , Christelle Piperoglou
- , Thibaut Perchet
- , Maxime Petit
- , Nadia Yessaad
- , Fabien Touzot
- , Julie Bruneau
- , Nizar Mahlaoui
- , Nicolas Zucchini
- , Catherine Farnarier
- , Gérard Michel
- , Despina Moshous
- , Stéphane Blanche
- , Arnaud Dujardin
- , Hergen Spits
- , Jörg H W Distler
- , Andreas Ramming
- , Capucine Picard
- , Rachel Golub
- , Alain Fischer
- & Eric Vivier
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Amendments and Corrections | | Open
Correction: Corrigendum: Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome
- Peter E. Thijssen
- , Yuya Ito
- , Giacomo Grillo
- , Jun Wang
- , Guillaume Velasco
- , Hirohisa Nitta
- , Motoko Unoki
- , Minako Yoshihara
- , Mikita Suyama
- , Yu Sun
- , Richard J. L. F. Lemmers
- , Jessica C. de Greef
- , Andrew Gennery
- , Paolo Picco
- , Barbara Kloeckener-Gruissem
- , Tayfun Güngör
- , Ismail Reisli
- , Capucine Picard
- , Kamila Kebaili
- , Bertrand Roquelaure
- , Tsuyako Iwai
- , Ikuko Kondo
- , Takeo Kubota
- , Monique M. van Ostaijen-Ten Dam
- , Maarten J. D. van Tol
- , Corry Weemaes
- , Claire Francastel
- , Silvère M. van der Maarel
- & Hiroyuki Sasaki
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Amendments and Corrections |
Erratum: CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation
- Emmanuel Martin
- , Noé Palmic
- , Sylvia Sanquer
- , Christelle Lenoir
- , Fabian Hauck
- , Cédric Mongellaz
- , Sylvie Fabrega
- , Patrick Nitschké
- , Mauro Degli Esposti
- , Jeremy Schwartzentruber
- , Naomi Taylor
- , Jacek Majewski
- , Nada Jabado
- , Robert F. Wynn
- , Capucine Picard
- , Alain Fischer
- , Peter D. Arkwright
- & Sylvain Latour
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Research | | Open
Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome
- Peter E. Thijssen
- , Yuya Ito
- , Giacomo Grillo
- , Jun Wang
- , Guillaume Velasco
- , Hirohisa Nitta
- , Motoko Unoki
- , Minako Yoshihara
- , Mikita Suyama
- , Yu Sun
- , Richard J. L. F. Lemmers
- , Jessica C. de Greef
- , Andrew Gennery
- , Paolo Picco
- , Barbara Kloeckener-Gruissem
- , Tayfun Güngör
- , Ismail Reisli
- , Capucine Picard
- , Kamila Kebaili
- , Bertrand Roquelaure
- , Tsuyako Iwai
- , Ikuko Kondo
- , Takeo Kubota
- , Monique M. van Ostaijen-Ten Dam
- , Maarten J. D. van Tol
- , Corry Weemaes
- , Claire Francastel
- , Silvère M. van der Maarel
- & Hiroyuki Sasaki
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Human adenylate kinase 2 deficiency causes a profound hematopoietic defect associated with sensorineural deafness
- Chantal Lagresle-Peyrou
- , Emmanuelle M Six
- , Capucine Picard
- , Frédéric Rieux-Laucat
- , Vincent Michel
- , Andrea Ditadi
- , Corinne Demerens-de Chappedelaine
- , Estelle Morillon
- , Françoise Valensi
- , Karen L Simon-Stoos
- , James C Mullikin
- , Lenora M Noroski
- , Céline Besse
- , Nicolas M Wulffraat
- , Alina Ferster
- , Manuel M Abecasis
- , Fabien Calvo
- , Christine Petit
- , Fabio Candotti
- , Laurent Abel
- , Alain Fischer
- & Marina Cavazzana-Calvo
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Research |
Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome)
- David Geneviève
- , Valérie Proulle
- , Bertrand Isidor
- , Samuel Bellais
- , Valérie Serre
- , Fatima Djouadi
- , Capucine Picard
- , Capucine Vignon-Savoye
- , Brigitte Bader-Meunier
- , Stéphane Blanche
- , Marie-Christine de Vernejoul
- , Laurence Legeai-Mallet
- , Anne-Marie Fischer
- , Martine Le Merrer
- , Marie Dreyfus
- , Pascale Gaussem
- , Arnold Munnich
- & Valérie Cormier-Daire
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Research |
Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency
- Xiao-Fei Kong
- , Ruben Martinez-Barricarte
- , James Kennedy
- , Federico Mele
- , Tomi Lazarov
- , Elissa K. Deenick
- , Cindy S. Ma
- , Gaëlle Breton
- , Kimberly B. Lucero
- , David Langlais
- , Aziz Bousfiha
- , Caner Aytekin
- , Janet Markle
- , Céline Trouillet
- , Fabienne Jabot-Hanin
- , Cecilia S. Lindestam Arlehamn
- , Geetha Rao
- , Capucine Picard
- , Théo Lasseau
- , Daniela Latorre
- , Sophie Hambleton
- , Caroline Deswarte
- , Yuval Itan
- , Katia Abarca
- , Dewton Moraes-Vasconcelos
- , Fatima Ailal
- , Aydan Ikinciogullari
- , Figen Dogu
- , Ibtihal Benhsaien
- , Alessandro Sette
- , Laurent Abel
- , Stéphanie Boisson-Dupuis
- , Bernd Schröder
- , Michel C. Nussenzweig
- , Kang Liu
- , Frédéric Geissmann
- , Stuart G. Tangye
- , Philippe Gros
- , Federica Sallusto
- , Jacinta Bustamante
- & Jean-Laurent Casanova
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Research | | Open
Type I interferon-mediated autoinflammation due to DNase II deficiency
- Mathieu P. Rodero
- , Alessandra Tesser
- , Eva Bartok
- , Gillian I. Rice
- , Erika Della Mina
- , Marine Depp
- , Benoit Beitz
- , Vincent Bondet
- , Nicolas Cagnard
- , Darragh Duffy
- , Michael Dussiot
- , Marie-Louise Frémond
- , Marco Gattorno
- , Flavia Guillem
- , Naoki Kitabayashi
- , Fabrice Porcheray
- , Frederic Rieux-Laucat
- , Luis Seabra
- , Carolina Uggenti
- , Stefano Volpi
- , Leo A H. Zeef
- , Marie-Alexandra Alyanakian
- , Jacques Beltrand
- , Anna Monica Bianco
- , Nathalie Boddaert
- , Chantal Brouzes
- , Sophie Candon
- , Roberta Caorsi
- , Marina Charbit
- , Monique Fabre
- , Flavio Faletra
- , Muriel Girard
- , Annie Harroche
- , Evelyn Hartmann
- , Dominique Lasne
- , Annalisa Marcuzzi
- , Bénédicte Neven
- , Patrick Nitschke
- , Tiffany Pascreau
- , Serena Pastore
- , Capucine Picard
- , Paolo Picco
- , Elisa Piscianz
- , Michel Polak
- , Pierre Quartier
- , Marion Rabant
- , Gabriele Stocco
- , Andrea Taddio
- , Florence Uettwiller
- , Erica Valencic
- , Diego Vozzi
- , Gunther Hartmann
- , Winfried Barchet
- , Olivier Hermine
- , Brigitte Bader-Meunier
- , Alberto Tommasini
- & Yanick J. Crow
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Research |
Evidence of innate lymphoid cell redundancy in humans
- Frédéric Vély
- , Vincent Barlogis
- , Blandine Vallentin
- , Bénédicte Neven
- , Christelle Piperoglou
- , Mikael Ebbo
- , Thibaut Perchet
- , Maxime Petit
- , Nadia Yessaad
- , Fabien Touzot
- , Julie Bruneau
- , Nizar Mahlaoui
- , Nicolas Zucchini
- , Catherine Farnarier
- , Gérard Michel
- , Despina Moshous
- , Stéphane Blanche
- , Arnaud Dujardin
- , Hergen Spits
- , Jörg H W Distler
- , Andreas Ramming
- , Capucine Picard
- , Rachel Golub
- , Alain Fischer
- & Eric Vivier
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Research |
Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery
- Eric M Scott
- , Anason Halees
- , Yuval Itan
- , Emily G Spencer
- , Yupeng He
- , Mostafa Abdellateef Azab
- , Stacey B Gabriel
- , Aziz Belkadi
- , Bertrand Boisson
- , Laurent Abel
- , Andrew G Clark
- , Sohair Abdel Rahim
- , Sawsan Abdel-Hadi
- , Ghada Abdel-Salam
- , Ekram Abdel-Salam
- , Mohammed Abdou
- , Avinash Abhytankar
- , Parisa Adimi
- , Jamil Ahmad
- , Mustafa Akcakus
- , Guside Aksu
- , Sami Al Hajjar
- , Suliman Al Juamaah
- , Saleh Al Muhsen
- , Nouriya Al Sannaa
- , Salem Al Tameni
- , Jumana Al-Aama
- , Nasir Al-Allawi
- , Raidah Al-Baradie
- , Lihadh Al-Gazali
- , Amal Al-Hashem
- , Waleed Al-Herz
- , Deema Al-Jeaid
- , Asma Al-Tawari
- , Abdullah Alangari
- , Alexandre Alcais
- , Tariq S AlFawaz
- , Zobaida Alsum
- , Aomar Ammar-Khodja
- , Sepideh Amouian
- , Cigdem Arikan
- , Omid Aryani
- , Ayca Aslanger
- , Cigdem Aydogmus
- , Caner Aytekin
- , Matloob Azam
- , Boglarka Bansagi
- , Mohamed-Rhida Barbouche
- , Laila Bastaki
- , Tawfeg Ben-Omran
- , Parayil Sankaran Bindu
- , Lizbeth Blancas
- , Stéphanie Boisson-Dupuis
- , Damien Bonnet
- , Omar Boudghene Stambouli
- , Aziz Bousfiha
- , Lobna Boussafara
- , Jeannette Boutros
- , Jacinta Bustamante
- , Huseyin Caksen
- , Yildiz Camcioglu
- , Emilie Catherinot
- , Fatma C Celik
- , Michael Ciancanelli
- , Funda E Cipe
- , Gary Clark
- , Aurélie Cobat
- , Sinan Comu
- , Angela Condie
- , Antonio Condino-Neto
- , Mukesh Desai
- , William Dobyns
- , Figen Dogu
- , Mohamed Domaia
- , Meltem Dorum
- , Odul Egritas
- , Safa El Azbaoui
- , Jamila El Baghdadi
- , Mona El Ruby
- , Ashraf El-Harouni
- , Reem A Elfeky
- , Gehad Elghazali
- , Eissa Faqeih
- , Elif Fenerci
- , Claire Fieschi
- , Cipe Funda
- , Iman Gamal
- , Umit Gelik
- , Fetah Genel
- , Alper Gezdirici
- , Katta M Girisha
- , Amy Goldstein
- , Padraic Grattan-Smith
- , Neerja Gupta
- , Jin Hahn
- , Nevin Hatipoglu
- , Raoul Hennekam
- , Massoud Houshmand
- , Philippe Ichai
- , Aydan Ikinciogullari
- , Samira Ismail
- , Chaim Jalas
- , Emmanuelle Jouanguy
- , Madhulika Kabra
- , Göknur Kalkan
- , Majdi Kara
- , Neslihan Karaca
- , Kadri Karaer
- , Ariana Kariminejad
- , Hulya Kayserili
- , Melike Keser-Emiroglu
- , Sara S Kilic
- , Najib Kissani
- , Cristina Kokron
- , Roshan Koul
- , Necil Kutukculer
- , Fanny Lanternier
- , Alireza Mahdaviani
- , Nizar Mahlaoui
- , Lobna Mansour
- , Davood Mansouri
- , Lucia Margari
- , Enza Maria Valente
- , Naima Marzouki
- , Amira Masri
- , Amina Megahed
- , Hisham Megahed
- , Najla Mekki
- , Mehrnaz Mesdaghi
- , Mohd Mikati
- , Faezeh Mojahedi
- , John Mulley
- , Sheela Nampoothiri
- , Carmen Navarrete
- , Tarek Omar
- , Azza Oraby
- , Ayse Pandaluz
- , Nima Parvaneh
- , Turkan Patiroglu
- , Zeynep Peker Koc
- , Isabelle Pellier
- , Capucine Picard
- , Anne Puel
- , Annick Raas-Rothschild
- , Anna Rajab
- , Didier Raoult
- , Ismail Reisli
- , Nima Rezaei
- , Ayoub Sabri
- , Yasin Sahin
- , Laila Saleem
- , Fadia Salem
- , Najla Sameer AlSediq
- , Ozden Sanal
- , Terry Sanger
- , Hanan Shakankiry
- , Lei Shang
- , Nabil Shehata
- , Nuri Shembesh
- , Vared Shkalim
- , Ameen Softah
- , Sameera Sogaty
- , Neveen Soliman
- , Fatma Sonmez-Aunaci
- , Laszlo Sztriha
- , Lynda Taibi-Berrah
- , Samia Temtamy
- , Hasan Tonekaboni
- , Doris Trauner
- , Beyhan Tuysuz
- , Beyhan Tuysuz
- , Ali Varan
- , Guillaume Vogt
- , Christopher Walsh
- , Geoffrey Woods
- , Gozde Yesil
- , Alisan Yildiran
- , Basak Yildiz
- , Adnan Yuksel
- , Maha Zaki
- , Shen-Ying Zhang
- , Fowzan S Alkuraya
- , Jean-Laurent Casanova
- & Joseph G Gleeson
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Research |
A narrow repertoire of transcriptional modules responsive to pyogenic bacteria is impaired in patients carrying loss-of-function mutations in MYD88 or IRAK4
- Laia Alsina
- , Elisabeth Israelsson
- , Matthew C Altman
- , Kristen K Dang
- , Pegah Ghandil
- , Laura Israel
- , Horst von Bernuth
- , Nicole Baldwin
- , Huanying Qin
- , Zongbo Jin
- , Romain Banchereau
- , Esperanza Anguiano
- , Alexei Ionan
- , Laurent Abel
- , Anne Puel
- , Capucine Picard
- , Virginia Pascual
- , Jean Laurent Casanova
- & Damien Chaussabel
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Research |
Juvenile myelomonocytic leukemia displays mutations in components of the RAS pathway and the PRC2 network
- Aurélie Caye
- , Marion Strullu
- , Fabien Guidez
- , Bruno Cassinat
- , Steven Gazal
- , Odile Fenneteau
- , Elodie Lainey
- , Kazem Nouri
- , Saeideh Nakhaei-Rad
- , Radovan Dvorsky
- , Julie Lachenaud
- , Sabrina Pereira
- , Jocelyne Vivent
- , Emmanuelle Verger
- , Dominique Vidaud
- , Claire Galambrun
- , Capucine Picard
- , Arnaud Petit
- , Audrey Contet
- , Marilyne Poirée
- , Nicolas Sirvent
- , Françoise Méchinaud
- , Dalila Adjaoud
- , Catherine Paillard
- , Brigitte Nelken
- , Yves Reguerre
- , Yves Bertrand
- , Dieter Häussinger
- , Jean-Hugues Dalle
- , Mohammad Reza Ahmadian
- , André Baruchel
- , Christine Chomienne
- & Hélène Cavé
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Research |
CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation
- Emmanuel Martin
- , Noé Palmic
- , Sylvia Sanquer
- , Christelle Lenoir
- , Fabian Hauck
- , Cédric Mongellaz
- , Sylvie Fabrega
- , Patrick Nitschké
- , Mauro Degli Esposti
- , Jeremy Schwartzentruber
- , Naomi Taylor
- , Jacek Majewski
- , Nada Jabado
- , Robert F. Wynn
- , Capucine Picard
- , Alain Fischer
- , Peter D. Arkwright
- & Sylvain Latour
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Research |
Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency
- Bertrand Boisson
- , Emmanuel Laplantine
- , Carolina Prando
- , Silvia Giliani
- , Elisabeth Israelsson
- , Zhaohui Xu
- , Avinash Abhyankar
- , Laura Israël
- , Giraldina Trevejo-Nunez
- , Dusan Bogunovic
- , Alma-Martina Cepika
- , Donna MacDuff
- , Maya Chrabieh
- , Marjorie Hubeau
- , Fanny Bajolle
- , Marianne Debré
- , Evelina Mazzolari
- , Donatella Vairo
- , Fabrice Agou
- , Herbert W Virgin
- , Xavier Bossuyt
- , Caroline Rambaud
- , Fabio Facchetti
- , Damien Bonnet
- , Pierre Quartier
- , Jean-Christophe Fournet
- , Virginia Pascual
- , Damien Chaussabel
- , Luigi D Notarangelo
- , Anne Puel
- , Alain Israël
- , Jean-Laurent Casanova
- & Capucine Picard
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Research |
The transmembrane activator TACI triggers immunoglobulin class switching by activating B cells through the adaptor MyD88
- Bing He
- , Raul Santamaria
- , Weifeng Xu
- , Montserrat Cols
- , Kang Chen
- , Irene Puga
- , Meimei Shan
- , Huabao Xiong
- , James B Bussel
- , April Chiu
- , Anne Puel
- , Jeanine Reichenbach
- , László Marodi
- , Rainer Döffinger
- , Julia Vasconcelos
- , Andrew Issekutz
- , Jens Krause
- , Graham Davies
- , Xiaoxia Li
- , Bodo Grimbacher
- , Alessandro Plebani
- , Eric Meffre
- , Capucine Picard
- , Charlotte Cunningham-Rundles
- , Jean-Laurent Casanova
- & Andrea Cerutti
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Research |
Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease
- Jacinta Bustamante
- , Andres A Arias
- , Guillaume Vogt
- , Capucine Picard
- , Lizbeth Blancas Galicia
- , Carolina Prando
- , Audrey V Grant
- , Christophe C Marchal
- , Marjorie Hubeau
- , Ariane Chapgier
- , Ludovic de Beaucoudrey
- , Anne Puel
- , Jacqueline Feinberg
- , Ethan Valinetz
- , Lucile Jannière
- , Céline Besse
- , Anne Boland
- , Jean-Marie Brisseau
- , Stéphane Blanche
- , Olivier Lortholary
- , Claire Fieschi
- , Jean-François Emile
- , Stéphanie Boisson-Dupuis
- , Saleh Al-Muhsen
- , Bruce Woda
- , Peter E Newburger
- , Antonio Condino-Neto
- , Mary C Dinauer
- , Laurent Abel
- & Jean-Laurent Casanova
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Research |
Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature
- Tracy A Briggs
- , Gillian I Rice
- , Sarah Daly
- , Jill Urquhart
- , Hannah Gornall
- , Brigitte Bader-Meunier
- , Kannan Baskar
- , Shankar Baskar
- , Veronique Baudouin
- , Michael W Beresford
- , Graeme C M Black
- , Rebecca J Dearman
- , Francis de Zegher
- , Emily S Foster
- , Camille Francès
- , Alison R Hayman
- , Emma Hilton
- , Chantal Job-Deslandre
- , Muralidhar L Kulkarni
- , Martine Le Merrer
- , Agnes Linglart
- , Simon C Lovell
- , Kathrin Maurer
- , Lucile Musset
- , Vincent Navarro
- , Capucine Picard
- , Anne Puel
- , Frederic Rieux-Laucat
- , Chaim M Roifman
- , Sabine Scholl-Bürgi
- , Nigel Smith
- , Marcin Szynkiewicz
- , Alice Wiedeman
- , Carine Wouters
- , Leo A H Zeef
- , Jean-Laurent Casanova
- , Keith B Elkon
- , Anthony Janckila
- , Pierre Lebon
- & Yanick J Crow
