Jeffrey Modell Chair of Pediatric Immunology Research in Boston
Karp Building, 10th floor, Rm 10217
1 Blackfan Circle
Boston, MA 02115
Visit my lab page here.
Dr. Notarangelo's research focuses of the characterization of the molecular and cellular bases of congenital immunodeficiencies as illustrated through the study of human patients and of suitable animal models. In particular, his lab is actively involved in understanding the essential signals that govern development and maturation of T and B lymphocytes. Defects in such processes are often responsible for life-threatening disorders, known as Severe Combined Immune Deficiencies (SCID). In the last years, Dr. Notarangelo and his colleagures have identified novel genetic defects responsible for SCID and other congenital immunodeficiencies in humans, such as SCID due to JAK3 deficiency, Omenn syndrome due to RAG genes defects, Omenn syndrome due to IL7R gene defect, immunodeficiency with hyper-IgM due to CD40L or to CD40 deficiency, isolated X-linked thrombocytopenia, and X-linked lymphoproliferative syndrome. They are also trying to define the genotype-phenotype correlation in such disorders, so that (if such correlation exists) it may be possible to predict the severity of the disease based on the specific gene defect identified in each family.
Dr. Notarangelo is also actively involved in exploiting novel and more effective forms of treatment for children affected with severe forms of congenital immunodeficiencies. In particular, his group has aimed at improving the long-term outcome after hematopoietic stem cell transplantation for SCID and other severe immunodeficiencies through the development of improved pre- and post-transplant strategies of clinical management.
Macchi P., Villa A, Giliani S., Sacco M.G., Frattini A., Porta F., Ugazio A.G., Johnston J.A., Candotti F., O'Shea J., Vezzoni P., Notarangelo L.D.: Mutations of Jak-3 gene in patients with autosomal severe combined immune deficiency (SCID). Nature, 1995, 377:65-68.
Villa A., Santagata S., Bozzi F., Giliani S., Frattini A., Imberti L., Benerini Gatta L., Ochs H.D., Schwarz K., Notarangelo L.D., Vezzoni P., Spanopoulou E.: Partial V(D)J recombination activity leads to Omenn syndrome. Cell 1998, 93:885-896.
Grunebaum E, Mazzolari E, Porta F, Dallera D, Atkinson A, Reid B, Notarangelo LD, Roifman CM: Bone marrow transplantation for Severe Combined Immune Deficiency. JAMA, 2006, 295:508-518.
Last Update: 1/6/2014