Mosaicism in autoinflammatory diseases: Cryopyrin-associated periodic syndromes (CAPS) and beyond. A systematic review

Haploinsufficiency of A20 causes autoinflammatory and autoimmune disorders

(2018) Tomonori Kadowaki et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Cryopyrin-associated Periodic Syndromes in Italian Patients: Evaluation of the Rate of Somatic NLRP3 Mosaicism and Phenotypic Characterization

(2017) Denise Lasigliè et al.   JOURNAL OF RHEUMATOLOGY

Novel NLRC4 Mutation Causes a Syndrome of Perinatal Autoinflammation With Hemophagocytic Lymphohistiocytosis, Hepatosplenomegaly, Fetal Thrombotic Vasculopathy, and Congenital Anemia and Ascites

(2017) Jiancong Liang et al.   PEDIATRIC AND DEVELOPMENTAL PATHOLOGY

Identification of a High-Frequency SomaticNLRC4Mutation as a Cause of Autoinflammation by Pluripotent Cell-Based Phenotype Dissection

(2017) Yuri Kawasaki et al.   Arthritis & Rheumatology

Late-Onset Cryopyrin-Associated Periodic Syndromes Caused by Somatic NLRP3 Mosaicism—UK Single Center Experience

(2017) Dorota M. Rowczenio et al.   Frontiers in Immunology

Criteria for CAPS, is it all in the name?

(2016) Isabelle Touitou et al.   ANNALS OF THE RHEUMATIC DISEASES

Old Dogs, New Tricks: Monogenic Autoinflammatory Disease Unleashed

(2016) Monique Stoffels et al.   Annual Review of Genomics and Human Genetics

Brief Report: Association of Tumor Necrosis Factor Receptor-Associated Periodic Syndrome With Gonosomal Mosaicism of a Novel 24-NucleotideTNFRSF1ADeletion

(2016) Dorota M. Rowczenio et al.   Arthritis & Rheumatology

Brief Report: Late-Onset Cryopyrin-Associated Periodic Syndrome Due to Myeloid-Restricted Somatic NLRP3 Mosaicism

(2016) Anna Mensa-Vilaro et al.   Arthritis & Rheumatology

Brief Report: First Identification of Intrafamilial Recurrence of Blau Syndrome due to GonosomalNOD2Mosaicism

(2016) Anna Mensa-Vilaro et al.   Arthritis & Rheumatology

Somatic NOD2 mosaicism in Blau syndrome

(2015) Jaime de Inocencio et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Myeloid lineage–restricted somatic mosaicism of NLRP3 mutations in patients with variant Schnitzler syndrome

(2015) Heleen D. de Koning et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Acquired familial Mediterranean fever associated with a somatic MEFV mutation in a patient with JAK2 associated post-polycythemia myelofibrosis

(2015) Yael Shinar et al.   Orphanet Journal of Rare Diseases

Brief Report: Cryopyrin-Associated Periodic Syndrome Caused by a Myeloid-Restricted SomaticNLRP3Mutation

(2015) Qing Zhou et al.   Arthritis & Rheumatology

When less is more

(2014) Angeliki Giannelou et al.   Current Opinion in Allergy and Clinical Immunology

An inherited mutation inNLRC4causes autoinflammation in human and mice

(2014) Akiko Kitamura et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation

(2014) Neil Romberg et al.   NATURE GENETICS

New monogenic diseases span the immunological disease continuum

(2014) Sinisa Savic et al.   Nature Reviews Rheumatology

Activated STING in a Vascular and Pulmonary Syndrome

(2014) Yin Liu et al.   NEW ENGLAND JOURNAL OF MEDICINE

First report of vertical transmission of a somaticNLRP3mutation in cryopyrin-associated periodic syndromes: Table 1

(2013) Santiago Jiménez-Treviño et al.   ANNALS OF THE RHEUMATIC DISEASES

SomaticNLRP3mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes

(2013) Kenji Nakagawa et al.   ANNALS OF THE RHEUMATIC DISEASES

The expanding spectrum of rare monogenic autoinflammatory diseases

(2013) Isabelle Touitou et al.   Orphanet Journal of Rare Diseases

Brief Report: Whole-Exome Sequencing Revealing SomaticNLRP3Mosaicism in a Patient With Chronic Infantile Neurologic, Cutaneous, Articular Syndrome

(2013) Ebun Omoyinmi et al.   Arthritis & Rheumatology

A Hypermorphic Missense Mutation in PLCG2 , Encoding Phospholipase Cγ2, Causes a Dominantly Inherited Autoinflammatory Disease with Immunodeficiency

(2012) Qing Zhou et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Detection of Base Substitution-Type Somatic Mosaicism of the NLRP3 Gene with >99.9% Statistical Confidence by Massively Parallel Sequencing

(2012) K. Izawa et al.   DNA RESEARCH

Identification and functional consequences of a recurrent NLRP12 missense mutation in periodic fever syndromes

(2011) Isabelle Jéru et al.   ARTHRITIS AND RHEUMATISM

High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: Results of an international multicenter collaborative study

(2011) Naoko Tanaka et al.   ARTHRITIS AND RHEUMATISM

Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity

(2011) Yin Liu et al.   ARTHRITIS AND RHEUMATISM

Genetic and Molecular Basis of Inflammasome-mediated Disease

(2011) Hal M. Hoffman et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Candidate Genes in Patients with Autoinflammatory Syndrome Resembling Tumor Necrosis Factor Receptor-associated Periodic Syndrome Without Mutations in the TNFRSF1A Gene

(2011) S. BORGHINI et al.   JOURNAL OF RHEUMATOLOGY

Mutations in the autoinflammatory cryopyrin-associated periodic syndrome gene: epidemiological study and lessons from eight years of genetic analysis in France

(2010) L. Cuisset et al.   ANNALS OF THE RHEUMATIC DISEASES

A somatic NLRP3 mutation as a cause of a sporadic case of chronic infantile neurologic, cutaneous, articular syndrome/neonatal-onset multisystem inflammatory disease: Novel evidence of the role of low-level mosaicism as the pathophysiologic mechanism unde

(2010) Juan I. Aróstegui et al.   ARTHRITIS AND RHEUMATISM

The NLRP3 Inflammasome: A Sensor for Metabolic Danger?

(2010) K. Schroder et al.   SCIENCE