A hypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn syndrome

Veronica Marrella, Pietro Luigi Poliani, Anna Casati, +14

Journal of Clinical Investigation

Mutations in <i>OSTM1</i> (Grey Lethal) Define a Particularly Severe Form of Autosomal Recessive Osteopetrosis With Neural Involvement

Alessandra Pangrazio, Pietro Luigi Poliani, André Mégarbané, +10

Journal of Bone and Mineral Research

GeneticsGrey LethalPathologyOsteogenesisBone Disease +16

Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in <i>Rag</i> -dependent immunodeficiency

Jolán E. Walter, Francesca Rucci, Laura Patrizi, +31

The Journal of Experimental Medicine

Rescue of ATPa3-deficient murine malignant osteopetrosis by hematopoietic stem cell transplantation <i>in utero</i>

Annalisa Frattini, Harry C. Blair, Maria Grazia Sacco, +14

Proceedings of the National Academy of Sciences

Gfp Transgenic MiceTransplantationDevelopmental BiologyMarrow TransplantationBone Morphogenic Protein +10

Distinct pathogenic roles for resident and monocyte-derived macrophages in lupus nephritis

Nathan Richoz, Zewen Kelvin Tuong, Kevin W. Loudon, +11

JCI Insight

Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndrome

Francesca Rucci, Luigi D. Notarangelo, Alex Fazeli, +19

Proceedings of the National Academy of Sciences

Induced pluripotent stem cells: A novel frontier in the study of human primary immunodeficiencies

Itai M. Pessach, José Ordovás-Montañés, Shen‐Ying Zhang, +12

Journal of Allergy and Clinical Immunology

Regenerative MedicineInduced Pluripotent Stem CellDevelopmental BiologyMedicineInduced Pluripotent Stem Cells +11

Damaging‐agent sensitivity of Artemis‐deficient cell lines

Antonio Musio, Veronica Marrella, Cristina Sobacchi, +9

European Journal of Immunology

Hairpin OpeningGeneticsCell DeathRadiation BiologyHairpin Ends +14

Abnormalities of Thymic Stroma may Contribute to Immune Dysregulation in Murine Models of Leaky Severe Combined Immunodeficiency

Francesca Rucci, Pietro Luigi Poliani, Stefano Giuseppe Caraffi, +5

Frontiers in Immunology

Lymphocyte DevelopmentImmunodeficienciesT-regulatory CellImmunologyImmunotherapy +19

Tissue-specific sensitivity to AID expression in transgenic mouse models

Francesca Rucci, Leonardo Cattaneo, Veronica Marrella, +14

Gene

Knockout MouseTransgenic Mouse ModelsAid ExpressionGene ExpressionMedicine +2