List of works - Estibaliz Ruiz-Ortiz

A family carrying a homozygous LACC1 truncated mutation expands the clinical phenotype of this disease beyond systemic-onset juvenile idiopathic arthritis.

scientific article

Analysis of autoantibodies against Ro52/Ro60 in patients with suspected diagnosis of autoimmune systemic disease.

scientific article published on 28 November 2012

Biomarkers for diagnosis and monitoring of celiac disease.

scientific article published on April 2013

Brief Report: First Identification of Intrafamilial Recurrence of Blau Syndrome due to Gonosomal NOD2 Mosaicism

scientific article published on 25 November 2015

Clinical and genetic characterization of the autoinflammatory diseases diagnosed in an adult reference center

scientific article published on 20 August 2015

Clinical and genetic features of Spanish patients with Mevalonate kinase deficiency.

scientific article

Clues to management of neonatally diagnosed BTK deficiency.

scientific article

Description of a case of late-onset cryopyrin-associated periodic syndrome due to low-level somatic NLRP3 mosaicism.

scientific article

Development of a workflow to analyze autoinflammatory-associated genes using AccessArray™ system and next generation sequencing.

scientific article published on 28 September 2015

First report of vertical transmission of a somatic NLRP3 mutation in cryopyrin-associated periodic syndromes.

scientific article published on 13 March 2013

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.

scientific article published in December 2014

Massively parallel sequencing reveals maternal somatic IL2RG mosaicism in an X-linked severe combined immunodeficiency family.

scientific article published on 15 May 2013

NOD2 mosaicism in Blau syndrome.

scientific article published on 28 September 2015

P02-002 - IL36RN mutations in patients with DITRA.

scientific article

P02-021 - Atypical CAPS consequence of novel NLPR3 mutations.

scientific article

PW02-024-B - First report of AA amyloidosis in Blau syndrome.

scientific article

Pyogenic bacterial infections in humans with MyD88 deficiency

scientific article

Somatic NLRP3 mosaicism in Muckle-Wells syndrome

scientific article published on 28 September 2015

Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes.

scientific article published on 10 December 2013

Somatic NOD2 mosaicism in Blau syndrome

scientific article

The NLRP3 inflammasome is released as a particulate danger signal that amplifies the inflammatory response

scientific article (publication date: August 2014)

Urinary levels of regenerating protein Iα do not differentiate celiac patients and healthy subjects.

scientific article published on 11 January 2013

List of works by Estibaliz Ruiz-Ortiz

A family carrying a homozygous LACC1 truncated mutation expands the clinical phenotype of this disease beyond systemic-onset juvenile idiopathic arthritis.

Analysis of autoantibodies against Ro52/Ro60 in patients with suspected diagnosis of autoimmune systemic disease.

Biomarkers for diagnosis and monitoring of celiac disease.

Brief Report: First Identification of Intrafamilial Recurrence of Blau Syndrome due to Gonosomal NOD2 Mosaicism

Clinical and genetic characterization of the autoinflammatory diseases diagnosed in an adult reference center

Clinical and genetic features of Spanish patients with Mevalonate kinase deficiency.

Clues to management of neonatally diagnosed BTK deficiency.

Description of a case of late-onset cryopyrin-associated periodic syndrome due to low-level somatic NLRP3 mosaicism.

Development of a workflow to analyze autoinflammatory-associated genes using AccessArray™ system and next generation sequencing.

First report of vertical transmission of a somatic NLRP3 mutation in cryopyrin-associated periodic syndromes.

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.

Massively parallel sequencing reveals maternal somatic IL2RG mosaicism in an X-linked severe combined immunodeficiency family.

NOD2 mosaicism in Blau syndrome.

P02-002 - IL36RN mutations in patients with DITRA.

P02-021 - Atypical CAPS consequence of novel NLPR3 mutations.

PW02-024-B - First report of AA amyloidosis in Blau syndrome.

Pyogenic bacterial infections in humans with MyD88 deficiency

Somatic NLRP3 mosaicism in Muckle-Wells syndrome

Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes.

Somatic NOD2 mosaicism in Blau syndrome

The NLRP3 inflammasome is released as a particulate danger signal that amplifies the inflammatory response

Urinary levels of regenerating protein Iα do not differentiate celiac patients and healthy subjects.