Alberto G. Ugazio

Activation-Induced Cytidine Deaminase (AID) Deficiency Causes the Autosomal Recessive Form of the Hyper-IgM Syndrome (HIGM2)

Patrick Revy, Taro Muto, Yves Lévy et al. · Cell · 2000 · 1.6K citations · Full text

Mendelian Disorder, Autoimmune Disease, Genetic Disorder +8

Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID)

Paolo Macchi, Anna Villa, Silvia Giliani et al. · Nature · 1995 · 882 citations

Primary Immunodeficiency, Immunogenetics, Immune Deficiency +10

Gene Therapy in Peripheral Blood Lymphocytes and Bone Marrow for ADA ⁻ Immunodeficient Patients

Claudio Bordignon, Luigi D. Notarangelo, Nadia Nobili et al. · Science · 1995 · 834 citations · Full text

Cell Therapy, In Vivo Gene Therapy, Immunodeficiencies +18

Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM

Ulf Korthäuer, Daniel Graf, Hans Werner Mages et al. · Nature · 1993 · 725 citations

Primary Immunodeficiency, Allergy, Autoimmune Disease +12

Mutations of<i>CD40</i>gene cause an autosomal recessive form of immunodeficiency with hyper IgM

Simona Ferrari, Silvia Giliani, Antonella Insalaco et al. · Proceedings of the National Academy of Sciences · 2001 · 376 citations · Full text