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Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia

author

Jean-Laurent Casanova

1963 -

Capucine Picard

1971 -

Maya Chrabieh

Kerry Dobbs

Aurélie Cobat

1980 -

Bertrand Boisson

1974 -

Laurent Abel

Luigi D Notarangelo

published in: Journal of Experimental Medicine

date of publication: 2015-05-25

language: English

Cites articles 70

Date

Title

Authors

2015-01-31

Immunological loss-of-function due to genetic gain-of-function in humans: autosomal dominance of the third kind

Jean-Laurent Casanova, Bertrand Boisson, Pierre Quartier
2015-01-20

Phenotypic complementation of genetic immunodeficiency by chronic herpesvirus infection

Capucine Picard, Jean-Laurent Casanova, Jacqueline M Kimmey, Bertrand Boisson, Marco Colonna, Herbert W. Virgin, L. David Sibley
2014-11-19

Biallelic loss-of-function mutation in NIK causes a primary immunodeficiency with multifaceted aberrant lymphoid immunity

Giulio Superti-Furga, Katharina L Willmann, Emily M. Mace, Elisabeth Salzer, Gregory I Vladimer, Jacques Colinge, Menno C van Zelm, Jordan Orange
2014-11-06

Ubiquitination in disease pathogenesis and treatment

Ivan Đikić, Doris Popovic
2014-10-26

A narrow repertoire of transcriptional modules responsive to pyogenic bacteria is impaired in patients carrying loss-of-function mutations in MYD88 or IRAK4

Anne Puel, Capucine Picard, Jean-Laurent Casanova, Pegah Ghandil, Laia Alsina, Damien Chaussabel, Laurent Abel
2014-10-13

Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies

Jean-Laurent Casanova, Laurent Abel, Luigi D Notarangelo
2014-09-18

Autosomal-dominant B-cell deficiency with alopecia due to a mutation in NFKB2 that results in nonprocessable p100

Chris Goodnow
2014-09-14

Immunodeficiency associated with a nonsense mutation of IKBKB.

Torben Barington, Marianne Antonius Jakobsen, Martin J Larsen, Søren Hansen, Søren Thue Lillevang
2014-08-18

A nonsense mutation in IKBKB causes combined immunodeficiency

Jialong Yang, Mehdi Adeli, Rebecca H. Buckley
2014-06-01

LUBAC: A new function in immunity

Jean-Laurent Casanova, Bertrand Boisson
2014-06-23

The linear ubiquitin assembly complex (LUBAC) is essential for NLRP3 inflammasome activation

Mary A Rodgers, Kazuhiro Iwai
2014-10

Discovery of single-gene inborn errors of immunity by next generation sequencing

Jean-Laurent Casanova
2014

Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency

Charlotte Cunningham-Rundles, Christoph Klein, Jean-Laurent Casanova, Capucine Picard, Talal A Chatila, Jennifer M Puck, Hans D. Ochs, Amos Etzioni
2014-05-08

Binding of OTULIN to the PUB domain of HOIP controls NF-κB signaling

Ivan Đikić
2014-05-08

Molecular Basis and Regulation of OTULIN-LUBAC Interaction

David Komander, Paul R Elliott, Mads Gyrd-Hansen
2014-02-04

A catalytic-independent role for the LUBAC in NF-κB activation upon antigen receptor engagement and in lymphoma cells

Thierry Fest, Zhijian J Chen, Julie Gavard
2014-02-02

A general framework for estimating the relative pathogenicity of human genetic variants

Martin Kircher, Brian J O'Roak, Gregory M Cooper, Jay Shendure, Daniela Witten
2014-04

Mechanism Underlying I B Kinase Activation Mediated by the Linear Ubiquitin Chain Assembly Complex

Soichi Wakatsuki
2014-01-01

TNF and IL-1 exhibit distinct ubiquitin requirements for inducing NEMO-IKK supramolecular structures

Jean-Yves Tinevez, Ricardo Henriques, Bertrand Boisson, Musa Mhlanga
2014-10-02

HOIP deficiency causes embryonic lethality by aberrant TNFR1-mediated endothelial cell death.

Barbara Pernaute, Yutaka Shimizu, Juan Pedro Martinez-Barbera, John Silke, Tristan A Rodríguez
2014-09-10

Combined immune deficiency in a patient with a novel NFKB2 mutation
2013-12-01

Deficiency of innate and acquired immunity caused by an IKBKB mutation

Stephan Ehl, Sebastian Fuchs, Anne Rensing-Ehl, Philipp Henneke
2013-11-21

Structural basis for ligase-specific conjugation of linear ubiquitin chains by HOIP

Benjamin Stieglitz, Evangelos Christodoulou, Katrin Rittinger, Ivan Đikić
2013

Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement

Cecilia Kim, Hakon Hakonarson, Kai Wang, Kelly A Thomas, Gholson J Lyon, Elina Toskala, Frederick C F Otieno, Cuiping Hou, Ryan Golhar
2013-12-01

Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1

Benedikt Schoser, Karim Wahbi
2013-03-18

The human gene connectome as a map of short cuts for morbid allele discovery

Shen-Ying Zhang, Lluís Quintana-Murci, Jean-Laurent Casanova, Patrick Nitschké, Melina Casadio, Guillaume Vogt, Laurent Abel, Yuval Itan, Avinash Abhyankar
2013-08-13

Defective immune responses in mice lacking LUBAC-mediated linear ubiquitination in B cells

Shigeo Murata, Shinji Sakamoto, Kazuhiro Iwai
2012-12

Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency

Jean-Laurent Casanova, Anne Puel, Capucine Picard, Marianne Debré, Zhaohui Xu, Bertrand Boisson, Damien Chaussabel, Pierre Quartier, Maya Chrabieh, Fabio Facchetti, Herbert W. Virgin, Luigi D Notarangelo, Avinash Abhyankar, Carolina Prando
2012-08-03

The E3 ligase HOIP specifies linear ubiquitin chain assembly through its RING-IBR-RING domain and the unique LDD extension

Sylvie M Noordermeer, Titia Sixma
2012-05-04

Engineering and structural characterization of a linear polyubiquitin-specific antibody
2011-11-07

The lymphatic vasculature in disease

Kari Alitalo
2011-10-28

IL-21 is the primary common γ chain-binding cytokine required for human B-cell differentiation in vivo

Jennifer M Puck, Morton J Cowan, Luigi D Notarangelo, Andrew R Gennery, Hermann Eibel, Jolan Walter, Mike Recher, Silvia Giliani, Waleed Al-Herz

Article - wd:Q35671268

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