Inheritance of autoinflammatory diseases: shifting paradigms and nomenclature

PSORS2 Is Due to Mutations in CARD14

(2012) Catherine T. Jordan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Rare and Common Variants in CARD14, Encoding an Epidermal Regulator of NF-kappaB, in Psoriasis

(2012) Catherine T. Jordan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Familial Pityriasis Rubra Pilaris Is Caused by Mutations in CARD14

(2012) Dana Fuchs-Telem et al.   AMERICAN JOURNAL OF HUMAN GENETICS

An International registry on Autoinflammatory diseases: the Eurofever experience

(2012) Natasa Toplak et al.   ANNALS OF THE RHEUMATIC DISEASES

Clinical impact ofMEFVmutations in children with periodic fever in a prevalent western European Caucasian population

(2012) Silvia Federici et al.   ANNALS OF THE RHEUMATIC DISEASES

Guidelines for the genetic diagnosis of hereditary recurrent fevers

(2012) Y Shinar et al.   ANNALS OF THE RHEUMATIC DISEASES

Familial Mediterranean fever: New phenotypes

(2012) Alessandra Soriano et al.   AUTOIMMUNITY REVIEWS

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

Familial Mediterranean fever in Germany: epidemiological, clinical, and genetic characteristics of a pediatric population

(2012) E. Lainka et al.   EUROPEAN JOURNAL OF PEDIATRICS

Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis

(2012) Sheng-Quan Zhang et al.   NATURE GENETICS

HOIL and water: the two faces of HOIL-1 deficiency

(2012) Michael J Ombrello et al.   NATURE IMMUNOLOGY

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

(2012) Bertrand Boisson et al.   NATURE IMMUNOLOGY

Severity scoring system for paediatric FMF

(2012) Gokhan Kalkan et al.   Nature Reviews Rheumatology

Cold Urticaria, Immunodeficiency, and Autoimmunity Related toPLCG2Deletions

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

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

Role of interleukin-1β in NLRP12-associated autoinflammatory disorders and resistance to anti-interleukin-1 therapy

(2011) Isabelle Jéru 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

Analysis of MEFV exon methylation and expression patterns in familial Mediterranean fever

(2011) Asli K Kirectepe et al.   BMC Medical Genetics

Role of tumour necrosis factor (TNF)-α and TNFRSF1A R92Q mutation in the pathogenesis of TNF receptor-associated periodic syndrome and multiple sclerosis

(2011) A. Caminero et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

The Eurofever Project: towards better care for autoinflammatory diseases

(2011) Seza Ozen et al.   EUROPEAN JOURNAL OF PEDIATRICS

The relative contribution of environmental and genetic factors to phenotypic variation in familial Mediterranean fever (FMF)

(2011) Ilan Ben-Zvi et al.   GENE

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

Interleukin-36–Receptor Antagonist Deficiency and Generalized Pustular Psoriasis

(2011) Slaheddine Marrakchi et al.   NEW ENGLAND JOURNAL OF MEDICINE

Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome

(2011) K. Arima et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Incidence and clinical features of hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) and spectrum of mevalonate kinase (MVK) mutations in German children

(2011) E. Lainka et al.   RHEUMATOLOGY INTERNATIONAL

PSMB8 Encoding the β5i Proteasome Subunit Is Mutated in Joint Contractures, Muscle Atrophy, Microcytic Anemia, and Panniculitis-Induced Lipodystrophy Syndrome

(2010) Anil K. Agarwal et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

Autoinflammatory Disease Reloaded: A Clinical Perspective

(2010) Daniel L. Kastner et al.   CELL

The Association of Inflammatory Bowel Disease and Mediterranean Fever Gene (MEFV) Mutations in Turkish Children

(2010) Nuray Uslu et al.   DIGESTIVE DISEASES AND SCIENCES

New insights into the enigma of immunoglobulin D

(2010) Kang Chen et al.   IMMUNOLOGICAL REVIEWS

Genotype–phenotype studies in a large cohort of Armenian patients with familial Mediterranean fever suggest clinical disease with heterozygous MEFV mutations

(2010) Mike M Moradian et al.   JOURNAL OF HUMAN GENETICS

Validation of the new paediatric criteria for the diagnosis of familial Mediterranean fever: data from a mixed population of 100 children from the French reference centre for auto-inflammatory disorders

(2010) A. Kondi et al.   RHEUMATOLOGY

Horror Autoinflammaticus: The Molecular Pathophysiology of Autoinflammatory Disease

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

Clinical disease among patients heterozygous for familial mediterranean fever

(2009) Dina Marek-Yagel et al.   ARTHRITIS AND RHEUMATISM

Familial mediterranean fever with a singleMEFVmutation: Where is the second hit?

(2009) Matthew G. Booty et al.   ARTHRITIS AND RHEUMATISM

Characterization of new mutations in the 5′-flanking region of the familial Mediterranean fever gene

(2009) C Notarnicola et al.   GENES AND IMMUNITY

Expression of the familial Mediterranean fever gene is regulated by nonsense-mediated decay†

(2009) Sylvie Grandemange et al.   HUMAN MOLECULAR GENETICS

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

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

An Integrated Classification of Pediatric Inflammatory Diseases, Based on the Concepts of Autoinflammation and the Immunological Disease Continuum

(2009) Dennis McGonagle et al.   PEDIATRIC RESEARCH

Genetic Variation in the Familial Mediterranean Fever Gene (MEFV) and Risk for Crohn's Disease and Ulcerative Colitis

(2009) Alexandra-Chloé Villani et al.   PLoS One

The clinical spectrum of 94 patients carrying a single mutated MEFV allele

(2009) I. Kone-Paut et al.   RHEUMATOLOGY

A new set of criteria for the diagnosis of familial Mediterranean fever in childhood

(2009) Fatoş Yalçınkaya et al.   RHEUMATOLOGY

Incidence of TNFRSF1A mutations in German children: epidemiological, clinical and genetic characteristics

(2009) E. Lainka et al.   RHEUMATOLOGY

The spectrum of MEFV clinical presentations-is it familial Mediterranean fever only?

(2009) E. Ben-Chetrit et al.   RHEUMATOLOGY

Disease severity in children and adolescents with familial Mediterranean fever: a comparative study to explore environmental effects on a monogenic disease

(2008) S Ozen et al.   ANNALS OF THE RHEUMATIC DISEASES

Autoinflammatory genes and susceptibility to psoriatic juvenile idiopathic arthritis

(2008) T. G. Day et al.   ARTHRITIS AND RHEUMATISM

The infevers autoinflammatory mutation online registry: update with new genes and functions

(2008) Florian Milhavet et al.   HUMAN MUTATION

The NLR Gene Family: A Standard Nomenclature

(2008) Jenny P.-Y. Ting et al.   IMMUNITY

Common variants in the NLRP3 region contribute to Crohn's disease susceptibility

(2008) Alexandra-Chloé Villani et al.   NATURE GENETICS

Mutations in NALP12 cause hereditary periodic fever syndromes

(2008) I. Jeru et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

MEFV mutations in systemic onset juvenile idiopathic arthritis

(2008) N. A. Ayaz et al.   RHEUMATOLOGY

Two pathogenicCIAS1mutations and plasma cytokine profile in a Finnish patient with familial cold autoinflammatory syndrome responsive to anakinra

(2008) O. Kaipiainen‐Seppänen et al.   SCANDINAVIAN JOURNAL OF RHEUMATOLOGY