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

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

(2015) Bertrand Boisson et al.   CURRENT OPINION IN IMMUNOLOGY

Phenotypic complementation of genetic immunodeficiency by chronic herpesvirus infection

(2015) Donna A MacDuff et al.   eLife

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

(2014) C. E. Lee et al.   BLOOD

A nonsense mutation in IKBKB causes combined immunodeficiency

(2014) T. Mousallem et al.   BLOOD

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

(2014) S. M. Dubois et al.   BLOOD

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

(2014) Mary Ellen Conley et al.   CURRENT OPINION IN IMMUNOLOGY

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

(2014) Nadine Tarantino et al.   JOURNAL OF CELL BIOLOGY

Immunodeficiency Associated with a Nonsense Mutation of IKBKB

(2014) Christian Nielsen et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Combined Immune Deficiency in a Patient with a Novel NFKB2 Mutation

(2014) Andrew W. Lindsley et al.   JOURNAL OF CLINICAL IMMUNOLOGY

LUBAC: A new function in immunity

(2014) Bertrand Boisson et al.   JOURNAL OF EXPERIMENTAL MEDICINE

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

(2014) Jean-Laurent Casanova et al.   JOURNAL OF EXPERIMENTAL MEDICINE

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

(2014) Mary A. Rodgers et al.   JOURNAL OF EXPERIMENTAL MEDICINE

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

(2014) H. Fujita et al.   MOLECULAR AND CELLULAR BIOLOGY

Binding of OTULIN to the PUB Domain of HOIP Controls NF-κB Signaling

(2014) Veronique Schaeffer et al.   MOLECULAR CELL

Molecular Basis and Regulation of OTULIN-LUBAC Interaction

(2014) Paul R. Elliott et al.   MOLECULAR CELL

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

(2014) Martin Kircher et al.   NATURE GENETICS

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

(2014) Laia Alsina et al.   NATURE IMMUNOLOGY

Ubiquitination in disease pathogenesis and treatment

(2014) Doris Popovic et al.   NATURE MEDICINE

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

(2014) Katharina L. Willmann et al.   Nature Communications

HOIP Deficiency Causes Embryonic Lethality by Aberrant TNFR1-Mediated Endothelial Cell Death

(2014) Nieves Peltzer et al.   Cell Reports

Primary Immunodeficiency Diseases: An Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency

(2014) Waleed Al-Herz et al.   Frontiers in Immunology

Polyglucosan body myopathy caused by defective ubiquitin ligase RBCK1

(2013) Johanna Nilsson et al.   ANNALS OF NEUROLOGY

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

(2013) Yoshiteru Sasaki et al.   EMBO JOURNAL

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

(2013) Benjamin Stieglitz et al.   NATURE

Deficiency of Innate and Acquired Immunity Caused by an IKBKB Mutation

(2013) Ulrich Pannicke et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

(2013) Y. Itan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2013) Kai Wang et al.   Genome Medicine

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

(2012) Judith J Smit et al.   EMBO JOURNAL

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

(2012) Bertrand Boisson et al.   NATURE IMMUNOLOGY

Human TLRs and IL-1Rs in Host Defense: Natural Insights from Evolutionary, Epidemiological, and Clinical Genetics

(2011) Jean-Laurent Casanova et al.   Annual Review of Immunology

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

(2011) M. Recher et al.   BLOOD

Infectious Diseases in Patients with IRAK-4, MyD88, NEMO, or I B  Deficiency

(2011) C. Picard et al.   CLINICAL MICROBIOLOGY REVIEWS

Engineering and Structural Characterization of a Linear Polyubiquitin-Specific Antibody

(2011) Marissa L. Matsumoto et al.   JOURNAL OF MOLECULAR BIOLOGY

SHARPIN is a component of the NF-κB-activating linear ubiquitin chain assembly complex

(2011) Fuminori Tokunaga et al.   NATURE

SHARPIN forms a linear ubiquitin ligase complex regulating NF-κB activity and apoptosis

(2011) Fumiyo Ikeda et al.   NATURE

Linear ubiquitination prevents inflammation and regulates immune signalling

(2011) Björn Gerlach et al.   NATURE

The lymphatic vasculature in disease

(2011) Kari Alitalo   NATURE MEDICINE

HOIL-1L Interacting Protein (HOIP) Is Essential for CD40 Signaling

(2011) Bruce S. Hostager et al.   PLoS One

Systems analysis identifies an essential role for SHANK-associated RH domain-interacting protein (SHARPIN) in macrophage Toll-like receptor 2 (TLR2) responses

(2011) D. E. Zak et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

IKKβ regulates essential functions of the vascular endothelium through kinase-dependent and -independent pathways

(2011) Noboru Ashida et al.   Nature Communications

Whole-Exome-Sequencing-Based Discovery of Human FADD Deficiency

(2010) Alexandre Bolze et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

(2010) Minji Byun et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Inhibition of NF-κB Signaling Retards Eosinophilic Dermatitis in SHARPIN-Deficient Mice

(2010) Yanhua Liang et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Clinical Features and Outcome of Patients With IRAK-4 and MyD88 Deficiency

(2010) Capucine Picard et al.   MEDICINE

HOIL-1L Interacting Protein (HOIP) as an NF-κB Regulating Component of the CD40 Signaling Complex

(2010) Bruce S. Hostager et al.   PLoS One

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Fast and accurate short read alignment with Burrows-Wheeler transform

(2009) H. Li et al.   BIOINFORMATICS

Linear polyubiquitination: a new regulator of NF-κB activation

(2009) Kazuhiro Iwai et al.   EMBO REPORTS

Recruitment of the Linear Ubiquitin Chain Assembly Complex Stabilizes the TNF-R1 Signaling Complex and Is Required for TNF-Mediated Gene Induction

(2009) Tobias L. Haas et al.   MOLECULAR CELL

Involvement of linear polyubiquitylation of NEMO in NF-κB activation

(2009) Fuminori Tokunaga et al.   NATURE CELL BIOLOGY

Pyogenic Bacterial Infections in Humans with MyD88 Deficiency

(2008) H. von Bernuth et al.   SCIENCE