List of works - Anna Mensa-Vilaro

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

scientific article

Brief Report: Association of Tumor Necrosis Factor Receptor-Associated Periodic Syndrome With Gonosomal Mosaicism of a Novel 24-Nucleotide TNFRSF1A Deletion

scientific article published on 18 March 2016

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

scientific article published on 25 November 2015

Brief Report: Late-Onset Cryopyrin-Associated Periodic Syndrome Due to Myeloid-Restricted Somatic NLRP3 Mosaicism

scientific article

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

Cryopyrin-associated Periodic Syndromes in Italian Patients: Evaluation of the Rate of Somatic NLRP3 Mosaicism and Phenotypic Characterization.

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

Dynamics of Plasma Cytokines in a Patient with Deficiency of Interleukin-36 Receptor Antagonist Successfully Treated with Anakinra

scientific article

Genetic and clinical features of cryopyrin-associated periodic syndromes in Turkish children

scientific article published on 10 May 2016

Late-Onset Cryopyrin-Associated Periodic Syndromes Caused by Somatic NLRP3 Mosaicism-UK Single Center Experience ⬇️

scientific article published on 31 October 2017

Molecular genetic investigation, clinical features and response to treatment in 21 patients with Schnitzler's syndrome ⬇️

scientific article

NOD2 mosaicism in Blau syndrome.

scientific article published on 28 September 2015

Novel evidences of atypical manifestations in cryopyrin-associated periodic syndromes.

scientific article published on 9 January 2017

Pyruvate kinase deficiency and severe congenital hemolytic anemia in a double heterozygous patient with paternal transmission of an early germ-line de novo mutation.

scientific article published on 28 August 2015

Somatic NLRP3 mosaicism in Muckle-Wells syndrome

scientific article published on 28 September 2015

Somatic NOD2 mosaicism in Blau syndrome

scientific article

Unexpected Relevant Role of Gene Mosaicism in Primary Immunodeficiency Diseases

article

List of works by Anna Mensa-Vilaro

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

Brief Report: Association of Tumor Necrosis Factor Receptor-Associated Periodic Syndrome With Gonosomal Mosaicism of a Novel 24-Nucleotide TNFRSF1A Deletion

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

Brief Report: Late-Onset Cryopyrin-Associated Periodic Syndrome Due to Myeloid-Restricted Somatic NLRP3 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.

Cryopyrin-associated Periodic Syndromes in Italian Patients: Evaluation of the Rate of Somatic NLRP3 Mosaicism and Phenotypic Characterization.

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.

Dynamics of Plasma Cytokines in a Patient with Deficiency of Interleukin-36 Receptor Antagonist Successfully Treated with Anakinra

Genetic and clinical features of cryopyrin-associated periodic syndromes in Turkish children

Late-Onset Cryopyrin-Associated Periodic Syndromes Caused by Somatic NLRP3 Mosaicism-UK Single Center Experience ⬇️

Molecular genetic investigation, clinical features and response to treatment in 21 patients with Schnitzler's syndrome ⬇️

NOD2 mosaicism in Blau syndrome.

Novel evidences of atypical manifestations in cryopyrin-associated periodic syndromes.

Pyruvate kinase deficiency and severe congenital hemolytic anemia in a double heterozygous patient with paternal transmission of an early germ-line de novo mutation.

Somatic NLRP3 mosaicism in Muckle-Wells syndrome

Somatic NOD2 mosaicism in Blau syndrome

Unexpected Relevant Role of Gene Mosaicism in Primary Immunodeficiency Diseases