Juan Ignacio Aróstegui
Research group
- Immunogenetics and immunotherapy in autoinflammatory and immune responses Accredited researcher (R3A)
Featured publications
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Cryopyrin-associated periodic syndromes in Italian Patients: Evaluation of the rate of somatic NLRP3 mosaicism and phenotypic characterization
Authors:Reference: Journal Of Rheumatology 2017. -
Late-Onset Cryopyrin-Associated Periodic Syndromes Caused by Somatic NLRP3 Mosaicism - UK Single Center Experience
Authors:Reference: Frontiers In Immunology 2017. -
Late onset cryopyrin-associated periodic syndrome due to myeloid-restricted somatic NLRP3 mosaicism
Authors:Reference: Arthritis & Rheumatology 2016. -
TNF Receptor Associated Periodic Syndrome associated with gonosomal mosaicism of a novel 24 nucleotide TNFRSF1A deletion
Authors:Reference: Arthritis & Rheumatology 2016. -
NOD2 mosaicism in Blau syndrome
Authors:Reference: Pediatric Rheumatology 2015. -
Somatic NOD2 mosaicism in Blau syndrome
Authors:Reference: Journal Of Allergy And Clinical Immunology 2015. -
Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes
Authors:Reference: Annals Of The Rheumatic Diseases 2015. -
Massively parallel sequencing reveals maternal somatic IL2RG mosaicism in an X-linked severe combined immunodeficiency family
Authors:Reference: Journal Of Allergy And Clinical Immunology 2013. -
High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: Results of an international multicenter collaborative study
Authors:Reference: Arthritis And Rheumatism 2011. -
A somatic NLRP3 mutation as a cause of a sporadic case of chronic infantile neurologic, cutaneous, articular syndrome/neonatal-onset multisystem inflammatory disease: Novel evidence of the role of low-level mosaicism as the pathophysiologic mechanism underlying mendelian inherited diseases
Authors:Reference: Arthritis And Rheumatism 2010.