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List of works by Francesco Frugoni

A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency.

scientific article

A novel mutation in the POLE2 gene causing combined immunodeficiency.

scientific article published on 11 September 2015

A systematic analysis of recombination activity and genotype-phenotype correlation in human recombination-activating gene 1 deficiency.

scientific article

Adult-onset manifestation of idiopathic T-cell lymphopenia due to a heterozygous RAG1 mutation

scientific article published on 2 November 2012

B cell-intrinsic deficiency of the Wiskott-Aldrich syndrome protein (WASp) causes severe abnormalities of the peripheral B-cell compartment in mice.

scientific article published in February 2012

Characterization of T and B cell repertoire diversity in patients with RAG deficiency

scientific article published on 16 December 2016

Expanding the spectrum of recombination-activating gene 1 deficiency: a family with early-onset autoimmunity

scientific article published on 24 July 2013

Functional analysis of naturally occurring DCLRE1C mutations and correlation with the clinical phenotype of ARTEMIS deficiency

scientific article published on 25 April 2015

Impaired receptor editing and heterozygous RAG2 mutation in a patient with systemic lupus erythematosus and erosive arthritis

scientific article

Intronic SH2D1A mutation with impaired SAP expression and agammaglobulinemia

scientific article published on 07 December 2012

Major histocompatibility complex class II deficiency in Kuwait: clinical manifestations, immunological findings and molecular profile

scientific article published on 10 November 2012

Next-Generation Sequencing Reveals Restriction and Clonotypic Expansion of Treg Cells in Juvenile Idiopathic Arthritis

scientific article

RAG1 reversion mosaicism in a patient with Omenn syndrome

scientific article published on 10 May 2014