F. Frugoni

RAG1 Reversion Mosaicism in a Patient with Omenn Syndrome

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

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.

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.

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.

A novel mutation in the POLE2 gene causing combined immunodeficiency.

J. Casanova, L. Notarangelo, F. Frugoni, 2016, 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 .