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    "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Autoinflammatory diseases are a group of disorders primarily characterized by dysregulation of innate immunity&#46;<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">1</span></a> Inflammasomes are complex protein structures that are formed either spontaneously or after a trigger and produce caspase 1&#46; Caspase 1 cleaves pro-IL-1&#946; and pro-IL-18 to IL-1&#946; and IL-18&#46;<a class="elsevierStyleCrossRefs" href="#bib0040"><span class="elsevierStyleSup">1&#44;2</span></a> Cryopyrin-associated periodic fever syndromes &#40;CAPS&#41; are a group of autoinflammatory disorders caused by mutations in the <span class="elsevierStyleItalic">NLRP3</span> gene&#46;<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">2</span></a> CAPS comprise three group of disorders&#58; chronic infantile neurological cutaneous and articular syndrome &#40;CINCA&#41;&#44; also known as neonatal-onset multisystem inflammatory disease &#40;NOMID&#41;&#44; Muckle-Wells syndrome &#40;MWS&#41;&#44; and familial cold autoinflammatory syndrome &#40;FCAS&#41;&#46;<a class="elsevierStyleCrossRefs" href="#bib0040"><span class="elsevierStyleSup">1&#8211;4</span></a> CINCA is associated with the most severe phenotype in the spectrum of CAPS&#46; The symptoms generally start in early infancy or even at birth&#46; Fever&#44; rash&#44; arthropathy&#44; central nervous system and ocular involvement are the main features of the disease&#46; MWS is associated with moderate severity and characterized by attacks of fever&#44; rash&#44; arthralgia&#44; arthritis and progressive sensorineural hearing loss&#46; FCAS is considered as the least severe phenotype of CAPS and characterized by self-limited episodes of fever&#44; rash&#44; conjunctivitis&#44; and arthralgia lasting less than 24<span class="elsevierStyleHsp" style=""></span>h&#44; precipitated by generalized exposure to cold&#46; Some patients may develop daily rash suggesting chronic inflammation&#46;<a class="elsevierStyleCrossRefs" href="#bib0045"><span class="elsevierStyleSup">2&#44;4&#44;5</span></a> The significance of V198M sequence variant in the <span class="elsevierStyleItalic">NLRP3</span> gene is uncertain and considered as low penetrant mutation&#46;<a class="elsevierStyleCrossRefs" href="#bib0065"><span class="elsevierStyleSup">6&#44;7</span></a> Herein we present two cases at the extreme ends of the CAPS spectrum with V198M sequence variant in the <span class="elsevierStyleItalic">NLRP3</span> gene to demonstrate that V198M sequence variant&#44; even though regarded as low penetrant mutation&#44; may cause to CINCA phenotype&#46;</p><p id="par0010" class="elsevierStylePara elsevierViewall"><span class="elsevierStyleBold">Case 1</span>&#58; A 16-month-old girl was consulted to pediatric rheumatology due to non-remitting fever for 3 weeks and persistence of high acute reactants &#40;APR&#41;&#46; She was born to non-consanguineous healthy parents at 29 weeks of gestation&#44; 820<span class="elsevierStyleHsp" style=""></span>g&#44; and was hospitalized for 3 months postnatally&#46; She had two episodes of persistent unexplained fever&#44; high APR &#91;C-reactive protein &#40;CRP&#41;&#58; 108<span class="elsevierStyleHsp" style=""></span>mg&#47;L&#44; erythrocyte sedimentation rate &#40;ESR&#41;&#58; 88<span class="elsevierStyleHsp" style=""></span>mm&#47;h&#93; with sterile cultures&#46; She had never been hospitalized after discharge until this event but was followed closely because of prematurity and insufficient physical development&#46; She had three episodes of fever and rash attacks and two episodes of only rash lasting 1&#8211;2 weeks in a year&#46; On physical examination she had frontal bossing&#44; saddle nose&#44; nystagmus&#44; swelling of bilateral knees and ankles &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>a&#41; and high APR &#40;CRP&#58; 299<span class="elsevierStyleHsp" style=""></span>mg&#47;L&#44; ESR&#58; 140<span class="elsevierStyleHsp" style=""></span>mm&#47;h&#41;&#46; Cranial magnetic resonance imaging&#44; eye examinations&#44; and auditory screening tests have been done at the follow-up visits for prematurity and all were normal&#46; After combining the medical history and physical findings we have suspected CINCA and <span class="elsevierStyleItalic">NLRP3</span> analysis showed heterozygous V198M sequence variant in exon 3&#46; Anakinra 2<span class="elsevierStyleHsp" style=""></span>mg&#47;kg&#47;day was started and APR dramatically improved with resolution of the fever&#46; But after a few months&#44; APR started to increase gradually again without fever and anakinra dose was increased up to 8<span class="elsevierStyleHsp" style=""></span>mg&#47;kg&#47;day&#46; Six months later anakinra was switched to canakinumab &#40;2<span class="elsevierStyleHsp" style=""></span>mg&#47;kg&#47;month&#41; due to painful injections&#46; Under canakinumab treatment&#44; although at some intervals had APR near to normal levels&#44; inflammation was not controlled totally &#40;CRP&#58; 51<span class="elsevierStyleHsp" style=""></span>mg&#47;L&#44; ESR&#58; 55<span class="elsevierStyleHsp" style=""></span>mm&#47;h&#41; and dose was increased gradually up to 12<span class="elsevierStyleHsp" style=""></span>mg&#47;kg&#47;month&#46; She is being followed for 3&#46;5 years and currently under monthly canakinumab &#40;12<span class="elsevierStyleHsp" style=""></span>mg&#47;kg&#47;month&#41; injections with normal APR and without further attacks&#46; Neurological development of the patient is compatible with her age&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0015" class="elsevierStylePara elsevierViewall"><span class="elsevierStyleBold">Case 2</span>&#58; An 8-year-old girl was admitted to clinic with the complaint of non-pruritic rash for the last 9 months&#46; Parents were non-consanguineous and healthy&#46; The rash was waxing and waning spontaneously but sometimes was getting worse with accompanying myalgia&#44; red eyes and subtle fever for a few days&#46; She had been followed and investigated by dermatology and pediatric allergy departments and many anti-histaminic medications have been tried with no effect on the rash&#46; The family did not associate the start of the rash with cold exposure but recalled that she was feeling unwell with more rashes after exposure to cold&#46; She had discrete annular urticaria-like rashes most notable on the forehead and lower extremities &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>b&#41; with normal examination otherwise&#46; APR was mildly elevated &#40;CRP 18<span class="elsevierStyleHsp" style=""></span>mg&#47;L&#44; ESR&#58; 20<span class="elsevierStyleHsp" style=""></span>mm&#47;h&#41;&#46; The clinical picture of the patient was compatible with FCAS and <span class="elsevierStyleItalic">NLRP3</span> analysis showed heterozygous V198M sequence variant in exon 3&#46; She is currently using canakinumab &#40;2<span class="elsevierStyleHsp" style=""></span>mg&#47;kg&#41; every two months for the last 3 years and did not have any further attack since the first dose of canakinumab&#46;</p><p id="par0020" class="elsevierStylePara elsevierViewall">In conclusion&#44; although CAPS patients have the same genetic disturbance and pathophysiology&#44; CINCA patients seem to have a continuous activity of inflammasome&#46; Early initiation of treatment with an IL-1 blocker &#40;anakinra&#44; canakinumab or rilonacept&#41; is essential to control ongoing inflammation and prevent secondary amyloidosis in CAPS patient and very high doses of IL-1 blockers may be needed in the very young to control the overwhelming inflammation&#46;</p><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Funding</span><p id="par0030" class="elsevierStylePara elsevierViewall">This research did not receive any specific grant from funding agencies in the public&#44; commercial&#44; or not-for-profit sectors&#46;</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Conflict of interest</span><p id="par0035" class="elsevierStylePara elsevierViewall">There is no conflict of interest associated with the manuscript&#46;</p></span></span>"
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Images in Clinical Rheumatology
We might have the same mutation but my inflammasome beats your inflammasome: CINCA versus FCAS
Podríamos tener la misma mutación, pero mi inflamasoma vence al tuyo: CINCA versus FCAS
Mustafa Çakan
Corresponding author
mustafacakan@hotmail.com

Corresponding author.
, Şerife Gül Karadağ, Nuray Aktay Ayaz
Health Sciences University, Istanbul Kanuni Sultan Süleyman Research and Training Hospital, Clinic of Pediatric Rheumatology, Istanbul, Turkey
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also known as neonatal-onset multisystem inflammatory disease &#40;NOMID&#41;&#44; Muckle-Wells syndrome &#40;MWS&#41;&#44; and familial cold autoinflammatory syndrome &#40;FCAS&#41;&#46;<a class="elsevierStyleCrossRefs" href="#bib0040"><span class="elsevierStyleSup">1&#8211;4</span></a> CINCA is associated with the most severe phenotype in the spectrum of CAPS&#46; The symptoms generally start in early infancy or even at birth&#46; Fever&#44; rash&#44; arthropathy&#44; central nervous system and ocular involvement are the main features of the disease&#46; MWS is associated with moderate severity and characterized by attacks of fever&#44; rash&#44; arthralgia&#44; arthritis and progressive sensorineural hearing loss&#46; FCAS is considered as the least severe phenotype of CAPS and characterized by self-limited episodes of fever&#44; rash&#44; conjunctivitis&#44; and arthralgia lasting less than 24<span class="elsevierStyleHsp" style=""></span>h&#44; precipitated by generalized exposure to cold&#46; Some patients may develop daily rash suggesting chronic inflammation&#46;<a class="elsevierStyleCrossRefs" href="#bib0045"><span class="elsevierStyleSup">2&#44;4&#44;5</span></a> The significance of V198M sequence variant in the <span class="elsevierStyleItalic">NLRP3</span> gene is uncertain and considered as low penetrant mutation&#46;<a class="elsevierStyleCrossRefs" href="#bib0065"><span class="elsevierStyleSup">6&#44;7</span></a> Herein we present two cases at the extreme ends of the CAPS spectrum with V198M sequence variant in the <span class="elsevierStyleItalic">NLRP3</span> gene to demonstrate that V198M sequence variant&#44; even though regarded as low penetrant mutation&#44; may cause to CINCA phenotype&#46;</p><p id="par0010" class="elsevierStylePara elsevierViewall"><span class="elsevierStyleBold">Case 1</span>&#58; A 16-month-old girl was consulted to pediatric rheumatology due to non-remitting fever for 3 weeks and persistence of high acute reactants &#40;APR&#41;&#46; She was born to non-consanguineous healthy parents at 29 weeks of gestation&#44; 820<span class="elsevierStyleHsp" style=""></span>g&#44; and was hospitalized for 3 months postnatally&#46; She had two episodes of persistent unexplained fever&#44; high APR &#91;C-reactive protein &#40;CRP&#41;&#58; 108<span class="elsevierStyleHsp" style=""></span>mg&#47;L&#44; erythrocyte sedimentation rate &#40;ESR&#41;&#58; 88<span class="elsevierStyleHsp" style=""></span>mm&#47;h&#93; with sterile cultures&#46; She had never been hospitalized after discharge until this event but was followed closely because of prematurity and insufficient physical development&#46; She had three episodes of fever and rash attacks and two episodes of only rash lasting 1&#8211;2 weeks in a year&#46; On physical examination she had frontal bossing&#44; saddle nose&#44; nystagmus&#44; swelling of bilateral knees and ankles &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>a&#41; and high APR &#40;CRP&#58; 299<span class="elsevierStyleHsp" style=""></span>mg&#47;L&#44; ESR&#58; 140<span class="elsevierStyleHsp" style=""></span>mm&#47;h&#41;&#46; Cranial magnetic resonance imaging&#44; eye examinations&#44; and auditory screening tests have been done at the follow-up visits for prematurity and all were normal&#46; After combining the medical history and physical findings we have suspected CINCA and <span class="elsevierStyleItalic">NLRP3</span> analysis showed heterozygous V198M sequence variant in exon 3&#46; Anakinra 2<span class="elsevierStyleHsp" style=""></span>mg&#47;kg&#47;day was started and APR dramatically improved with resolution of the fever&#46; But after a few months&#44; APR started to increase gradually again without fever and anakinra dose was increased up to 8<span class="elsevierStyleHsp" style=""></span>mg&#47;kg&#47;day&#46; Six months later anakinra was switched to canakinumab &#40;2<span class="elsevierStyleHsp" style=""></span>mg&#47;kg&#47;month&#41; due to painful injections&#46; Under canakinumab treatment&#44; although at some intervals had APR near to normal levels&#44; inflammation was not controlled totally &#40;CRP&#58; 51<span class="elsevierStyleHsp" style=""></span>mg&#47;L&#44; ESR&#58; 55<span class="elsevierStyleHsp" style=""></span>mm&#47;h&#41; and dose was increased gradually up to 12<span class="elsevierStyleHsp" style=""></span>mg&#47;kg&#47;month&#46; She is being followed for 3&#46;5 years and currently under monthly canakinumab &#40;12<span class="elsevierStyleHsp" style=""></span>mg&#47;kg&#47;month&#41; injections with normal APR and without further attacks&#46; Neurological development of the patient is compatible with her age&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0015" class="elsevierStylePara elsevierViewall"><span class="elsevierStyleBold">Case 2</span>&#58; An 8-year-old girl was admitted to clinic with the complaint of non-pruritic rash for the last 9 months&#46; Parents were non-consanguineous and healthy&#46; The rash was waxing and waning spontaneously but sometimes was getting worse with accompanying myalgia&#44; red eyes and subtle fever for a few days&#46; She had been followed and investigated by dermatology and pediatric allergy departments and many anti-histaminic medications have been tried with no effect on the rash&#46; The family did not associate the start of the rash with cold exposure but recalled that she was feeling unwell with more rashes after exposure to cold&#46; She had discrete annular urticaria-like rashes most notable on the forehead and lower extremities &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>b&#41; with normal examination otherwise&#46; APR was mildly elevated &#40;CRP 18<span class="elsevierStyleHsp" style=""></span>mg&#47;L&#44; ESR&#58; 20<span class="elsevierStyleHsp" style=""></span>mm&#47;h&#41;&#46; The clinical picture of the patient was compatible with FCAS and <span class="elsevierStyleItalic">NLRP3</span> analysis showed heterozygous V198M sequence variant in exon 3&#46; She is currently using canakinumab &#40;2<span class="elsevierStyleHsp" style=""></span>mg&#47;kg&#41; every two months for the last 3 years and did not have any further attack since the first dose of canakinumab&#46;</p><p id="par0020" class="elsevierStylePara elsevierViewall">In conclusion&#44; although CAPS patients have the same genetic disturbance and pathophysiology&#44; CINCA patients seem to have a continuous activity of inflammasome&#46; Early initiation of treatment with an IL-1 blocker &#40;anakinra&#44; canakinumab or rilonacept&#41; is essential to control ongoing inflammation and prevent secondary amyloidosis in CAPS patient and very high doses of IL-1 blockers may be needed in the very young to control the overwhelming inflammation&#46;</p><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Funding</span><p id="par0030" class="elsevierStylePara elsevierViewall">This research did not receive any specific grant from funding agencies in the public&#44; commercial&#44; or not-for-profit sectors&#46;</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Conflict of interest</span><p id="par0035" class="elsevierStylePara elsevierViewall">There is no conflict of interest associated with the manuscript&#46;</p></span></span>"
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            0 => array:3 [
              "identificador" => "bib0040"
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                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Autoinflammatory diseases&#58; state of the art"
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                        0 => array:2 [
                          "etal" => false
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                            0 => "S&#46; Georgin-Lavialle"
                            1 => "A&#46; Fayand"
                            2 => "F&#46; Rodrigues"
                            3 => "C&#46; Bachmeyer"
                            4 => "L&#46; Savey"
                            5 => "G&#46; Grateau"
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                    0 => array:2 [
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                        "tituloSerie" => "Presse Med"
                        "fecha" => "2019"
                        "volumen" => "48"
                        "paginaInicial" => "e25"
                        "paginaFinal" => "e48"
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                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/30686513"
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                      ]
                    ]
                  ]
                ]
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            1 => array:3 [
              "identificador" => "bib0045"
              "etiqueta" => "2"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "An update on autoinflammatory diseases&#58; inflammasomopathies"
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                        0 => array:2 [
                          "etal" => false
                          "autores" => array:4 [
                            0 => "C&#46;R&#46; Harapas"
                            1 => "A&#46; Steiner"
                            2 => "S&#46; Davidson"
                            3 => "S&#46;L&#46; Masters"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1007/s11926-018-0750-4"
                      "Revista" => array:5 [
                        "tituloSerie" => "Curr Rheumatol Rep"
                        "fecha" => "2018"
                        "volumen" => "20"
                        "paginaInicial" => "40"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/29846819"
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                ]
              ]
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              "identificador" => "bib0050"
              "etiqueta" => "3"
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                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Detection of a novel mutation in NLRP3&#47;CIAS1 gene in an Indian child with Neonatal-Onset Multisystem Inflammatory Disease &#40;NOMID&#41;"
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                        0 => array:2 [
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                            1 => "P&#46;P&#46; Chavan"
                            2 => "A&#46;S&#46; Athalye"
                            3 => "I&#46; Aksentijevich"
                            4 => "R&#46;P&#46; Khubchandani"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1007/s10067-018-4225-9"
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                        "tituloSerie" => "Clin Rheumatol"
                        "fecha" => "2019"
                        "volumen" => "38"
                        "paginaInicial" => "403"
                        "paginaFinal" => "406"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/30066283"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            3 => array:3 [
              "identificador" => "bib0055"
              "etiqueta" => "4"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome&#58; a series of 136 patients from the Eurofever registry"
                      "autores" => array:1 [
                        0 => array:3 [
                          "colaboracion" => "for PRINTO and Eurofever"
                          "etal" => true
                          "autores" => array:7 [
                            0 => "R&#46; Levy"
                            1 => "L&#46; Gerard"
                            2 => "J&#46; Keummerle-Deschner"
                            3 => "H&#46;J&#46; Lachmann"
                            4 => "I&#46; Kone-Paut"
                            5 => "L&#46; Cantarini"
                            6 => "P&#46; Woo"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1136/annrheumdis-2013-204991"
                      "Revista" => array:6 [
                        "tituloSerie" => "Ann Rheum Dis"
                        "fecha" => "2015"
                        "volumen" => "74"
                        "paginaInicial" => "2043"
                        "paginaFinal" => "2049"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/25038238"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
            4 => array:3 [
              "identificador" => "bib0060"
              "etiqueta" => "5"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Classification criteria for autoinflammatory recurrent fevers"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:6 [
                            0 => "M&#46; Gattorno"
                            1 => "M&#46; Hofer"
                            2 => "S&#46; Federici"
                            3 => "F&#46; Vanoni"
                            4 => "F&#46; Bovis"
                            5 => "I&#46; Aksentijevich"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1136/annrheumdis-2019-215048"
                      "Revista" => array:6 [
                        "tituloSerie" => "Ann Rheum Dis"
                        "fecha" => "2019"
                        "volumen" => "78"
                        "paginaInicial" => "1025"
                        "paginaFinal" => "1032"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/31018962"
                            "web" => "Medline"
                          ]
                        ]
                      ]
                    ]
                  ]
                ]
              ]
            ]
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              "identificador" => "bib0065"
              "etiqueta" => "6"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Clinical and molecular phenotypes of low-penetrance variants of NLRP3&#58; diagnostic and therapeutic challenges"
                      "autores" => array:1 [
                        0 => array:2 [
                          "etal" => true
                          "autores" => array:6 [
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                            2 => "T&#46; Endres"
                            3 => "L&#46; Broderick"
                            4 => "A&#46;A&#46; de Jesus"
                            5 => "F&#46; Hofer"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1002/art.40208"
                      "Revista" => array:5 [
                        "tituloSerie" => "Arthritis Rheumatol"
                        "fecha" => "2017"
                        "volumen" => "69"
                        "paginaInicial" => "2233"
                        "paginaFinal" => "2240"
                      ]
                    ]
                  ]
                ]
              ]
            ]
            6 => array:3 [
              "identificador" => "bib0070"
              "etiqueta" => "7"
              "referencia" => array:1 [
                0 => array:2 [
                  "contribucion" => array:1 [
                    0 => array:2 [
                      "titulo" => "Clinical characteristics in subjects with NLRP3 V198M diagnosed at a single UK center and a review of the literature"
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                        0 => array:2 [
                          "etal" => true
                          "autores" => array:6 [
                            0 => "D&#46;M&#46; Rowczenio"
                            1 => "H&#46; Trojer"
                            2 => "T&#46; Russell"
                            3 => "A&#46; Baginska"
                            4 => "T&#46; Lane"
                            5 => "N&#46;M&#46; Stewart"
                          ]
                        ]
                      ]
                    ]
                  ]
                  "host" => array:1 [
                    0 => array:2 [
                      "doi" => "10.1186/ar4171"
                      "Revista" => array:5 [
                        "tituloSerie" => "Arthritis Res Ther"
                        "fecha" => "2013"
                        "volumen" => "15"
                        "paginaInicial" => "R30"
                        "link" => array:1 [
                          0 => array:2 [
                            "url" => "https://www.ncbi.nlm.nih.gov/pubmed/23421920"
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                ]
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            ]
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ISSN: 21735743
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