about
Pyogenic bacterial infections in humans with MyD88 deficiencyThe NLRP3 inflammasome is released as a particulate danger signal that amplifies the inflammatory responseSomatic NOD2 mosaicism in Blau syndromeBiomarkers for diagnosis and monitoring of celiac disease.Clinical and genetic characterization of the autoinflammatory diseases diagnosed in an adult reference center.Brief Report: First Identification of Intrafamilial Recurrence of Blau Syndrome due to Gonosomal NOD2 Mosaicism.Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes.First report of vertical transmission of a somatic NLRP3 mutation in cryopyrin-associated periodic syndromes.Massively parallel sequencing reveals maternal somatic IL2RG mosaicism in an X-linked severe combined immunodeficiency family.Urinary levels of regenerating protein Iα do not differentiate celiac patients and healthy subjects.Development of a workflow to analyze autoinflammatory-associated genes using AccessArray™ system and next generation sequencing.Analysis of autoantibodies against Ro52/Ro60 in patients with suspected diagnosis of autoimmune systemic disease.PW02-024-B - First report of AA amyloidosis in Blau syndrome.P02-021 - Atypical CAPS consequence of novel NLPR3 mutations.P02-002 - IL36RN mutations in patients with DITRA.Somatic NLRP3 mosaicism in Muckle-Wells syndrome.NOD2 mosaicism in Blau syndrome.HLA-DQ2/DQ8 and HLA-DQB1*02 homozygosity typing by real-time polymerase chain reaction for the assessment of celiac disease genetic risk: evaluation of a Spanish celiac population.Clues to management of neonatally diagnosed BTK deficiency.Clinical and genetic features of Spanish patients with Mevalonate kinase deficiency.A family carrying a homozygous LACC1 truncated mutation expands the clinical phenotype of this disease beyond systemic-onset juvenile idiopathic arthritis.Description of a case of late-onset cryopyrin-associated periodic syndrome due to low-level somatic NLRP3 mosaicism.
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description
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Estibaliz Ruiz-Ortiz
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Estibaliz Ruiz-Ortiz
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Estibaliz Ruiz-Ortiz
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Estibaliz Ruiz-Ortiz
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Estibaliz Ruiz-Ortiz
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Estibaliz Ruiz-Ortiz
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Estibaliz Ruiz-Ortiz
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Estibaliz Ruiz-Ortiz
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Estibaliz Ruiz-Ortiz
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Estibaliz Ruiz-Ortiz
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Estibaliz Ruiz-Ortiz
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0000-0002-3003-934X