title: X-linked lymphoproliferative disease (XLP): a model of impaired anti-viral, anti-tumor and humoral immune responses.
abstract: A major focus of our research is to understand the molecular and cellular basis of X-linked lymphoproliferative disease (XLP), a rare and often fatal immunodeficiency caused by mutations in the SH2D1A gene, which encodes the adaptor molecule SAP. Recently, we observed that SAP is essential for the development of natural killer T (NKT) cells, a lymphocyte population that participates in protection against certain tumors, infections, and autoimmune states. In this review, we describe the approaches that we are taking to understand the role of SAP in immune cells, including NKT cells. By using SAP as the focal point of our studies, we hope to identify novel signaling pathways that could be targeted to improve the treatment for patients with XLP as well as more common disorders, such as autoimmunity and cancer.
authors.affiliation: Infectious Diseases Fellowship Training Program, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
authors.forename: Hamid
authors.initials: H
authors.lastname: Bassiri
authors.forename: W C
authors.initials: WC
authors.lastname: Janice Yeo
authors.forename: Jennifer
authors.initials: J
authors.lastname: Rothman
authors.forename: Gary A
authors.initials: GA
authors.lastname: Koretzky
authors.forename: Kim E
authors.initials: KE
authors.lastname: Nichols
mesh_terms: D000818:Animals; D000917:Antibody Formation / Q000276:immunology*; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000172:deficiency / Q000235:genetics; D007694:Killer Cells, Natural / Q000166:cytology / Q000276:immunology; D008232:Lymphoproliferative Disorders / Q000235:genetics / Q000276:immunology* / Q000473:pathology; D009154:Mutation; D009369:Neoplasms / Q000276:immunology* / Q000473:pathology / Q000628:therapy; D000071179:Signaling Lymphocytic Activation Molecule Associated Protein; D013601:T-Lymphocytes / Q000166:cytology / Q000276:immunology; D014777:Virus Diseases / Q000276:immunology* / Q000473:pathology / Q000628:therapy
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C114953:SH2D1A protein, human; D000071179:Signaling Lymphocytic Activation Molecule Associated Protein