Francesco Frugoni

发表

Intronic SH2D1A mutation with impaired SAP expression and agammaglobulinemia.

L. Notarangelo, J. Walter, R. Geha, 2013, Clinical immunology.

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

J. Hartwig, L. Notarangelo, J. Walter, 2012, Blood.

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

L. Notarangelo, J. Walter, Karin Chen, 2015, The Journal of allergy and clinical immunology.

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

L. Notarangelo, Q. Pan-Hammarström, L. Hammarström, 2014, The Journal of allergy and clinical immunology.

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

J. Hartwig, F. Frugoni, M. Massaad, 2012 .

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

M. van der Burg, E. Mejstrikova, L. Notarangelo, 2015, The Journal of allergy and clinical immunology.

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

L. Notarangelo, J. Walter, L. Henderson, 2013, The Journal of allergy and clinical immunology.

Recombination activity of human recombination‐activating gene 2 (RAG2) mutations and correlation with clinical phenotype

M. van der Burg, L. Notarangelo, J. Walter, 2019, The Journal of allergy and clinical immunology.

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

Hao Wu, L. Notarangelo, J. Walter, 2016, Science Immunology.

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

F. Alt, M. Vihinen, L. Notarangelo, 2013, The Journal of allergy and clinical immunology.

Major Histocompatibility Complex Class II Deficiency in Kuwait: Clinical Manifestations, Immunological Findings and Molecular Profile

L. Notarangelo, F. Frugoni, W. Al-Herz, 2012, Journal of Clinical Immunology.

First reported case of Omenn syndrome in a patient with reticular dysgenesis.

Katja G. Weinacht, L. Notarangelo, F. Frugoni, 2013, The Journal of allergy and clinical immunology.

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

L. Notarangelo, J. Walter, S. Giliani, 2013, The Journal of allergy and clinical immunology.

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

L. Notarangelo, J. Walter, L. Henderson, 2016, Arthritis & rheumatology.

RAG1 Reversion Mosaicism in a Patient with Omenn Syndrome

L. Notarangelo, E. Crestani, S. Choo, 2014, Journal of Clinical Immunology.

A novel mutation in the POLE2 gene causing combined immunodeficiency.

J. Casanova, L. Notarangelo, F. Frugoni, 2016, The Journal of allergy and clinical immunology.

Major Histocompatibility Complex Class II Deficiency in Kuwait: Clinical Manifestations, Immunological Findings and Molecular Profile

L. Notarangelo, W. Al-Herz, M. Recher, 2013, Journal of Clinical Immunology.

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

M. van der Burg, E. Mejstrikova, L. Notarangelo, 2015, The Journal of allergy and clinical immunology.

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

F. Alt, M. Vihinen, L. Notarangelo, 2013, The Journal of allergy and clinical immunology.

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

L. Notarangelo, J. Walter, Karin Chen, 2015, The Journal of allergy and clinical immunology.

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

L. Notarangelo, Q. Pan-Hammarström, L. Hammarström, 2014, The Journal of allergy and clinical immunology.

RAG1 Reversion Mosaicism in a Patient with Omenn Syndrome

L. Notarangelo, Yu Nee Lee, E. Crestani, 2014, Journal of Clinical Immunology.