| P50 | author | Antonio Percesepe | Q55712698 |
| | Francesco Bonatti | Q56457092 |
| | Davide Martorana | Q57079174 |
| P2093 | author name string | Augusto Vaglio | |
| | Paola Mozzoni | |
| P2860 | cites work | Variable expression and treatment of PAPA syndrome | Q83420924 |
| | A novel IL36RN/IL1F5 homozygous nonsense mutation, p.Arg10X, in a Japanese patient with adult-onset generalized pustular psoriasis | Q83688921 |
| | Targeted treatment of pyoderma gangrenosum in PAPA (pyogenic arthritis, pyoderma gangrenosum and acne) syndrome with the recombinant human interleukin-1 receptor antagonist anakinra | Q84391992 |
| | Clinical efficacy of etanercept for treatment of PAPA syndrome | Q84596254 |
| | Association of a mutation in LACC1 with a monogenic form of systemic juvenile idiopathic arthritis | Q85309904 |
| | A functional inflammasome activation assay differentiates patients with pathogenic NLRP3 mutations and symptomatic patients with low penetrance variants | Q86549084 |
| | Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome | Q22009989 |
| | ASC, a novel 22-kDa protein, aggregates during apoptosis of human promyelocytic leukemia HL-60 cells | Q22010808 |
| | Lipodystrophy in the fld mouse results from mutation of a new gene encoding a nuclear protein, lipin | Q24290696 |
| | Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome | Q24291856 |
| | PYPAF7, a novel PYRIN-containing Apaf1-like protein that regulates activation of NF-kappa B and caspase-1-dependent cytokine processing | Q24297724 |
| | Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes | Q24298360 |
| | Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD) | Q24303651 |
| | Mutations affecting the BHLHA9 DNA-binding domain cause MSSD, mesoaxial synostotic syndactyly with phalangeal reduction, Malik-Percin type | Q24307947 |
| | Mutations in NALP12 cause hereditary periodic fever syndromes | Q24308730 |
| | NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder | Q24317771 |
| | STING is an endoplasmic reticulum adaptor that facilitates innate immune signalling | Q24336398 |
| | De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases | Q24337040 |
| | The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers | Q24535763 |
| | RANK is essential for osteoclast and lymph node development | Q24598872 |
| | An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist | Q24606097 |
| | Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome | Q24622470 |
| | Genetic structure of the Han Chinese population revealed by genome-wide SNP variation | Q24644546 |
| | The NAIP/NLRC4 inflammasomes | Q26829603 |
| | Global epidemiology of psoriasis: a systematic review of incidence and prevalence | Q26991871 |
| | Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production | Q28114794 |
| | C13orf31 (FAMIN) is a central regulator of immunometabolic function | Q28115290 |
| | The contribution of genotypes at the MEFV and SAA1 loci to amyloidosis and disease severity in patients with familial Mediterranean fever | Q28190162 |
| | Urticaria, deafness, and amyloidosis: a new heredo-familial syndrome | Q28203639 |
| | Three mammalian lipins act as phosphatidate phosphatases with distinct tissue expression patterns | Q28278069 |
| | Cytosolic flagellin requires Ipaf for activation of caspase-1 and interleukin 1beta in salmonella-infected macrophages | Q28594887 |
| | Genomewide association study of leprosy | Q28943354 |
| | Identification of novel mutations in CD2BP1 gene in clinically proven rheumatoid arthritis patients of south India | Q30008913 |
| | Autoinflammatory syndromes and cellular responses to stress: pathophysiology, diagnosis and new treatment perspectives | Q39541279 |
| | Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation. | Q40111903 |
| | Next-generation sequencing and its initial applications for molecular diagnosis of systemic auto-inflammatory diseases. | Q40138574 |
| | Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers | Q40171678 |
| | IL36RN mutation causing generalized pustular psoriasis in a Palestinian patient | Q40204732 |
| | Interactions of the Immune System with Skin and Bone Tissue in Psoriatic Arthritis: A Comprehensive Review. | Q30251957 |
| | Modeling of tumor necrosis factor receptor superfamily 1A mutants associated with tumor necrosis factor receptor-associated periodic syndrome indicates misfolding consistent with abnormal function. | Q30355878 |
| | Early-onset stroke and vasculopathy associated with mutations in ADA2 | Q30410263 |
| | Mutation analysis of the IL36RN gene in 14 Japanese patients with generalized pustular psoriasis | Q30420443 |
| | Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis. | Q30469652 |
| | Pyrin activates the ASC pyroptosome in response to engagement by autoinflammatory PSTPIP1 mutants | Q30489231 |
| | An autoinflammatory disease due to homozygous deletion of the IL1RN locus | Q33577198 |
| | CARD14 alterations in Tunisian patients with psoriasis and further characterization in European cohorts | Q33726533 |
| | Registries in rheumatological and musculoskeletal conditions. Paediatric Behçet's disease: an international cohort study of 110 patients. One-year follow-up data | Q33734255 |
| | Monogenic IL-1 mediated autoinflammatory and immunodeficiency syndromes: finding the right balance in response to danger signals | Q33798590 |
| | Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group. | Q33864877 |
| | A domain in TNF receptors that mediates ligand-independent receptor assembly and signaling | Q33907802 |
| | Mevalonate kinase deficiency and Dutch type periodic fever. | Q34009024 |
| | A candidate gene for familial Mediterranean fever | Q34065122 |
| | Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome maps to chromosome 15q. | Q34145644 |
| | Activated STING in a vascular and pulmonary syndrome | Q34241214 |
| | Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation | Q34254942 |
| | An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome | Q34254955 |
| | Biology of the RANKL-RANK-OPG System in Immunity, Bone, and Beyond | Q34366449 |
| | CANDLE syndrome: a recently described autoinflammatory syndrome | Q34429628 |
| | Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever Registry. | Q34429717 |
| | An inherited mutation in NLRC4 causes autoinflammation in human and mice | Q34447217 |
| | CARD15 mutations in Blau syndrome | Q34517310 |
| | PSORS2 is due to mutations in CARD14. | Q34637710 |
| | Lipin-2 regulates NLRP3 inflammasome by affecting P2X7 receptor activation. | Q34680399 |
| | The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production | Q34684433 |
| | Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome | Q34881247 |
| | Long-term clinical profile of children with the low-penetrance R92Q mutation of the TNFRSF1A gene | Q35038000 |
| | Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation | Q35038760 |
| | Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever | Q35064725 |
| | The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model | Q35064730 |
| | Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations | Q35145346 |
| | Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). | Q35448758 |
| | Brief Report: Involvement of TNFRSF11A molecular defects in autoinflammatory disorders | Q40204969 |
| | Identification and functional consequences of a recurrent NLRP12 missense mutation in periodic fever syndromes. | Q40326197 |
| | Search for copy number alterations in the MEFV gene using multiplex ligation probe amplification, experience from three diagnostic centres | Q40413709 |
| | The infevers autoinflammatory mutation online registry: update with new genes and functions. | Q40421899 |
| | New CIAS1 mutation and anakinra efficacy in overlapping of Muckle-Wells and familial cold autoinflammatory syndromes | Q40430284 |
| | Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever. | Q40451318 |
| | A splice site mutation confirms the role of LPIN2 in Majeed syndrome. | Q40456688 |
| | Unexpected high frequency of P46L TNFRSF1A allele in sub-Saharan West African populations | Q40519469 |
| | MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever | Q40521342 |
| | Infevers: an evolving mutation database for auto-inflammatory syndromes | Q40528366 |
| | Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis | Q40573796 |
| | Episodic evolution of pyrin in primates: human mutations recapitulate ancestral amino acid states | Q40606624 |
| | The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators. | Q40621671 |
| | The genetic basis of autosomal dominant familial Mediterranean fever | Q40622328 |
| | Criteria for the diagnosis of familial Mediterranean fever | Q40645936 |
| | Arthropathy with rash, chronic meningitis, eye lesions, and mental retardation | Q40852430 |
| | Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated inflammatory diseases | Q41195612 |
| | Prevalence of Severe Fatigue Among Adolescents With Pediatric Rheumatic Diseases | Q41445832 |
| | Refractory auto-inflammatory syndrome associated with digenic transmission of low-penetrance tumour necrosis factor receptor-associated periodic syndrome and cryopyrin-associated periodic syndrome mutations | Q42955426 |
| | Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production | Q43063452 |
| | Rare pathogenic variants in IL36RN underlie a spectrum of psoriasis-associated pustular phenotypes. | Q44409945 |
| | Prevalent and rare mutations in IL-36RN gene in Chinese patients with generalized pustular psoriasis and psoriasis vulgaris | Q44667905 |
| | Novel IL36RN mutation in a Japanese case of early onset generalized pustular psoriasis. | Q45016093 |
| | Mutations in IL36RN in patients with generalized pustular psoriasis | Q45770643 |
| | Response to Interleukin (IL)-17 Inhibition in an Adolescent With Severe Manifestations of IL-36 Receptor Antagonist Deficiency (DITRA). | Q46038448 |
| | Genomewide association study of leprosy | Q46362134 |
| | Evolutionary hypothesis of the Mevalonate Kinase Deficiency | Q46576532 |
| | Familial Mediterranean fever: is low mortality from tuberculosis a specific advantage for MEFV mutations carriers? Mortality from tuberculosis among Muslims, Jewish, French, Italian and Maltese patients in Tunis (Tunisia) in the first half of the 20 | Q46727711 |
| | Palmoplantar Pustular Psoriasis Is Associated with Missense Variants in CARD14, but Not with Loss-of-Function Mutations in IL36RN in European Patients. | Q50916835 |
| | The majority of generalized pustular psoriasis without psoriasis vulgaris is caused by deficiency of interleukin-36 receptor antagonist. | Q50970356 |
| | NOD2 and CCDC122-LACC1 genes are associated with leprosy susceptibility in Brazilians. | Q51037919 |
| | Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. | Q54806502 |
| | CARD15 mutations in familial granulomatosis syndromes: a study of the original Blau syndrome kindred and other families with large-vessel arteritis and cranial neuropathy. | Q55036209 |
| | Rare variations in IL36RN in severe adverse drug reactions manifesting as acute generalized exanthematous pustulosis. | Q55056989 |
| | Ancient Missense Mutations in a New Member of the RoRet Gene Family Are Likely to Cause Familial Mediterranean Fever | Q56288694 |
| | The role of the F402L allele in the NLRP12-autoinflammatory disorder. Reply to: F402L variant in NLRP12 in subjects with undiagnosed periodic fevers and in healthy controls, De Pieri et al | Q58326151 |
| | Role of etanercept in the treatment of tumor necrosis factor receptor-associated periodic syndrome: personal experience and review of the literature | Q58326278 |
| | "Streaking leukocyte factor," arthritis, and pyoderma gangrenosum | Q59281283 |
| | A New Autosomal Dominant Disorder of Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, and Acne: PAPA Syndrome | Q60164632 |
| | GENERALIZED PUSTULAR PSORIASIS | Q61160680 |
| | F402L variant in NLRP12 in subjects with undiagnosed periodic fevers and in healthy controls | Q61451155 |
| | Novel adenosine deaminase 2 mutations in a child with a fatal vasculopathy | Q62937748 |
| | Familial Mediterranean fever | Q74309346 |
| | A role for geranylgeranylation in interleukin-1beta secretion | Q79318151 |
| | Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome | Q80809518 |
| | Abnormal production of tumor necrosis factor (TNF) -- alpha and clinical efficacy of the TNF inhibitor etanercept in a patient with PAPA syndrome [corrected] | Q81097626 |
| | Anakinra for flares of pyogenic arthritis in PAPA syndrome | Q81239826 |
| | The RANKL/RANK/OPG pathway | Q81414623 |
| | Dramatic improvement of pyoderma gangrenosum with infliximab in a patient with PAPA syndrome | Q81785424 |
| | The 3' addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1. | Q35524513 |
| | Clinical significance of P46L and R92Q substitutions in the tumour necrosis factor superfamily 1A gene | Q35637824 |
| | Mevalonate kinase deficiency: Evidence for a phenotypic continuum. | Q35705792 |
| | Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity. | Q35754152 |
| | Genetic linkage of familial granulomatous inflammatory arthritis, skin rash, and uveitis to chromosome 16 | Q35882192 |
| | NLRP3 E311K mutation in a large family with Muckle-Wells syndrome--description of a heterogeneous phenotype and response to treatment | Q35907763 |
| | The spectrum of autoinflammatory diseases: recent bench to bedside observations | Q36048259 |
| | Familial pityriasis rubra pilaris is caused by mutations in CARD14. | Q36096111 |
| | A novel mutation of IL1RN in the deficiency of interleukin-1 receptor antagonist syndrome: description of two unrelated cases from Brazil | Q36296299 |
| | A novel mutation in the interleukin-1 receptor antagonist associated with intrauterine disease onset | Q36296302 |
| | A story with a good ending: tRNA 3'-end maturation by CCA-adding enzymes | Q36346707 |
| | High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an International Multicenter Collaborative Study | Q36399888 |
| | Role of interleukin-1 (IL-1) in the pathogenesis of systemic onset juvenile idiopathic arthritis and clinical response to IL-1 blockade | Q36403583 |
| | Monarch-1/PYPAF7 and other CATERPILLER (CLR, NOD, NLR) proteins with negative regulatory functions | Q36453716 |
| | The pharmacologic basis of treatment with colchicine in children with familial Mediterranean fever. | Q36566401 |
| | The prevalence of severe fatigue in rheumatic diseases: an international study | Q36578304 |
| | Efficacy of anti-IL-1 treatment in Majeed syndrome | Q36863142 |
| | Diagnostic Value of Urinary Mevalonic Acid Excretion in Patients with a Clinical Suspicion of Mevalonate Kinase Deficiency (MKD). | Q36903604 |
| | Brief report: genotype, phenotype, and clinical course in five patients with PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne). | Q37080235 |
| | A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD). | Q37142757 |
| | How the study of children with rheumatic diseases identified interferon-alpha and interleukin-1 as novel therapeutic targets | Q37211247 |
| | Familial Mediterranean fever with a single MEFV mutation: where is the second hit? | Q37366257 |
| | The lipin family: mutations and metabolism | Q37445474 |
| | Acute generalized exanthematous pustulosis: analysis of cases managed in a tertiary hospital in Singapore | Q37763744 |
| | Cryopyrin-associated periodic syndromes: diagnosis and management | Q37984096 |
| | The autoinflammatory diseases | Q38020104 |
| | Familial Mediterranean fever: new phenotypes. | Q38033405 |
| | Osteoclast formation and differentiation: an overview | Q38125096 |
| | The genetic background of generalized pustular psoriasis: IL36RN mutations and CARD14 gain-of-function variants | Q38198320 |
| | IL36RN Mutations Affect Protein Expression and Function: A Basis for Genotype-Phenotype Correlation in Pustular Diseases | Q38843242 |
| | Insights from Mendelian Interferonopathies: Comparison of CANDLE, SAVI with AGS, Monogenic Lupus. | Q38966512 |
| | Innate immune sensing of bacterial modifications of Rho GTPases by the Pyrin inflammasome | Q38985852 |
| | Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis | Q39217108 |
| P304 | page(s) | 344 | |
| P577 | publication date | 2017-04-03 | |
| P1433 | published in | Frontiers in Immunology | Q27723748 |
| P1476 | title | Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations | |
| P478 | volume | 8 | |