Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis

N-terminal degradation activates the NLRP1B inflammasome

(2019) Ashley J. Chui et al.   SCIENCE

Functional degradation: A mechanism of NLRP1 inflammasome activation by diverse pathogen enzymes

(2019) Andrew Sandstrom et al.   SCIENCE

Homozygous calcium-sensing receptor polymorphism R544Q presents as hypocalcemic hypoparathyroidism

(2018) Branca M Cavaco et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Canakinumab for the Treatment of Autoinflammatory Recurrent Fever Syndromes

(2018) Fabrizio De Benedetti et al.   NEW ENGLAND JOURNAL OF MEDICINE

Epidermodysplasia Verruciformis: Inborn Errors of Immunity to Human Beta-Papillomaviruses

(2018) Sarah J. de Jong et al.   Frontiers in Microbiology

Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency

(2018) Nicholas Hernandez et al.   JOURNAL OF EXPERIMENTAL MEDICINE

The human CIB1–EVER1–EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses

(2018) Sarah Jill de Jong et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Human DPP9 represses NLRP1 inflammasome and protects against autoinflammatory diseases via both peptidase activity and FIIND domain binding

(2018) Franklin L. Zhong et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Blacklisting variants common in private cohorts but not in public databases optimizes human exome analysis

(2018) Patrick Maffucci et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Life-threatening NLRC4-associated hyperinflammation successfully treated with IL-18 inhibition

(2017) Scott W. Canna et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

TNF regulates transcription of NLRP3 inflammasome components and inflammatory molecules in cryopyrinopathies

(2017) Matthew D. McGeough et al.   JOURNAL OF CLINICAL INVESTIGATION

A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD ( NLRP1- associated autoinflammation with arthritis and dyskeratosis)

(2016) Sylvie Grandemange et al.   ANNALS OF THE RHEUMATIC DISEASES

Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation

(2016) Franklin L. Zhong et al.   CELL

Human Monocytes Engage an Alternative Inflammasome Pathway

(2016) Moritz M. Gaidt et al.   IMMUNITY

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

The mutation significance cutoff: gene-level thresholds for variant predictions

(2016) Yuval Itan et al.   NATURE METHODS

Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage

(2016) Aziz Belkadi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Risk Factors for Dysplasia in Recurrent Respiratory Papillomatosis in an Adult and Pediatric Population

(2015) Selmin Karatayli-Ozgursoy et al.   ANNALS OF OTOLOGY RHINOLOGY AND LARYNGOLOGY

The NLRP1 inflammasomes

(2015) Joseph Chavarría-Smith et al.   IMMUNOLOGICAL REVIEWS

Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015

(2015) Capucine Picard et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Multiple Self-Healing Palmoplantar Carcinoma: A Familial Predisposition to Skin Cancer with Primary Palmoplantar and Conjunctival Lesions

(2015) Ons Mamaï et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Inflammasomes: mechanism of action, role in disease and therapeutics

(2015) Haitao Guo et al.   NATURE MEDICINE

The human gene damage index as a gene-level approach to prioritizing exome variants

(2015) Yuval Itan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency

(2015) M. J. Ciancanelli et al.   SCIENCE

Adult-Onset Recurrent Respiratory Papillomatosis

(2015) Sal Taliercio et al.   JAMA Otolaryngology-Head & Neck Surgery

Risk factors for adult-onset recurrent respiratory papillomatosis

(2014) Ryan Ruiz et al.   LARYNGOSCOPE

Unknown

(2014) James DeVoti et al.   MOLECULAR MEDICINE

An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome

(2014) Scott W Canna et al.   NATURE GENETICS

Recurrent Respiratory Papillomatosis: HPV Genotypes and Risk of High-Grade Laryngeal Neoplasia

(2014) Turid Omland et al.   PLoS One

Estimating the Incidence and Prevalence of Juvenile-Onset Recurrent Respiratory Papillomatosis in Publicly and Privately Insured Claims Databases in the United States

(2014) Mark Marsico et al.   SEXUALLY TRANSMITTED DISEASES

Divergence of IL-1, IL-18, and cell death in NLRP3 inflammasomopathies

(2013) Susannah D. Brydges et al.   JOURNAL OF CLINICAL INVESTIGATION

Inherited human OX40 deficiency underlying classic Kaposi sarcoma of childhood

(2013) Minji Byun et al.   JOURNAL OF EXPERIMENTAL MEDICINE

DNA detection and seroprevalence of human papillomavirus in a cohort of adolescent women

(2013) Aaron C Ermel et al.   SEXUALLY TRANSMITTED INFECTIONS

Genic Intolerance to Functional Variation and the Interpretation of Personal Genomes

(2013) Slavé Petrovski et al.   PLoS Genetics

Post-Translational Control of IL-1β via the Human Papillomavirus Type 16 E6 Oncoprotein: A Novel Mechanism of Innate Immune Escape Mediated by the E3-Ubiquitin Ligase E6-AP and p53

(2013) Martina Niebler et al.   PLoS Pathogens

The Central Role of Anti-IL-1 Blockade in the Treatment of Monogenic and Multi-Factorial Autoinflammatory Diseases

(2013) Silvia Federici et al.   Frontiers in Immunology

Inflammasomes and Their Roles in Health and Disease

(2012) Mohamed Lamkanfi et al.   Annual Review of Cell and Developmental Biology

Human papillomavirus genotype detection in recurrent respiratory papillomatosis (RRP) in Colombia

(2012) Gloria I. Sanchez et al.   HEAD AND NECK-JOURNAL FOR THE SCIENCES AND SPECIALTIES OF THE HEAD AND NECK

Warts and all: Human papillomavirus in primary immunodeficiencies

(2012) Jennifer W. Leiding et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Recurrent Respiratory Papillomatosis

(2012) Naren N. Venkatesan et al.   OTOLARYNGOLOGIC CLINICS OF NORTH AMERICA

Gain-of-Function Pyrin Mutations Induce NLRP3 Protein-Independent Interleukin-1β Activation and Severe Autoinflammation in Mice

(2011) Jae Jin Chae et al.   IMMUNITY

Human Papillomavirus (HPV) 6, 11, 16, and 18 Prevalence Among Females in the United States—National Health and Nutrition Examination Survey, 2003–2006: Opportunity to Measure HPV Vaccine Impact?

(2011) Eileen F. Dunne et al.   JOURNAL OF INFECTIOUS DISEASES

Human Papillomavirus Deregulates the Response of a Cellular Network Comprising of Chemotactic and Proinflammatory Genes

(2011) Rezaul Karim et al.   PLoS One

Recurrent respiratory papillomatosis: a complex defect in immune responsiveness to human papillomavirus-6 and -11

(2010) VINCENT R. BONAGURA et al.   APMIS

Epidemiology of recurrent respiratory papillomatosis

(2010) DANIEL A. LARSON et al.   APMIS

Disfiguring Generalized Verrucosis in an Indonesian Man With Idiopathic CD4 Lymphopenia

(2010) Bachti Alisjahbana et al.   ARCHIVES OF DERMATOLOGY

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Recurrent Respiratory Papillomatosis: A Review

(2009) Craig S. Derkay et al.   LARYNGOSCOPE

Natural Selection on Genes that Underlie Human Disease Susceptibility

(2008) Ran Blekhman et al.   CURRENT BIOLOGY

Epidemiology of Human Papillomavirus Infection in Men, Cancers other than Cervical and Benign Conditions

(2008) Anna R. Giuliano et al.   VACCINE