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

Cold Urticaria, Immunodeficiency, and Autoimmunity Related toPLCG2Deletions

(2012) Michael J. Ombrello et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

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

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

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

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

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

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

Lafora Disease

(2010) Thomas S. Monaghan et al.   CNS DRUGS

Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease

(2010) Gaetan Lesca et al.   EPILEPSIA

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

Horror Autoinflammaticus: The Molecular Pathophysiology of Autoinflammatory Disease

(2009) Seth L. Masters et al.   Annual Review of Immunology

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

An Autoinflammatory Disease with Deficiency of the Interleukin-1–Receptor Antagonist

(2009) Ivona Aksentijevich et al.   NEW ENGLAND JOURNAL OF MEDICINE

Increased Endoplasmic Reticulum Stress and Decreased Proteasomal Function in Lafora Disease Models Lacking the Phosphatase Laforin

(2009) Santiago Vernia et al.   PLoS One

A Modular Analysis Framework for Blood Genomics Studies: Application to Systemic Lupus Erythematosus

(2008) Damien Chaussabel et al.   IMMUNITY

Pyogenic Bacterial Infections in Humans with MyD88 Deficiency

(2008) H. von Bernuth et al.   SCIENCE