title: Lymphocytic vasculitis involving the central nervous system occurs in patients with X-linked lymphoproliferative disease in the absence of Epstein-Barr virus infection.
abstract: X-linked lymphoproliferative disease (XLP) is an immunodeficiency caused by defects in the adaptor molecule SAP. The manifestations of XLP generally occur following Epstein-Barr virus (EBV) infection and include fulminant mononucleosis, hypogammaglobulinemia and lymphoma. In this report, we describe two unrelated patients with fatal T-cell-mediated central nervous system vasculitis for whom repeated serologic and molecular testing for EBV was negative. In both patients, clonal T-cell populations were observed, but neither demonstrated evidence of lymphoma. Thus, loss of SAP function can lead to dysregulated immune responses characterized by the uncontrolled expansion and activation of T cells independent of EBV infection.
authors.affiliation: Laboratory of Parasitic Diseases, National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: Kawsar R
authors.initials: KR
authors.lastname: Talaat
authors.forename: Jennifer A
authors.initials: JA
authors.lastname: Rothman
authors.forename: Jeffrey I
authors.initials: JI
authors.lastname: Cohen
authors.forename: Mariarita
authors.initials: M
authors.lastname: Santi
authors.forename: John K
authors.initials: JK
authors.lastname: Choi
authors.forename: Miguel
authors.initials: M
authors.lastname: Guzman
authors.forename: Robert
authors.initials: R
authors.lastname: Zimmerman
authors.forename: Sudha
authors.initials: S
authors.lastname: Nallasamy
authors.forename: Alexander
authors.initials: A
authors.lastname: Brucker
authors.forename: Martha
authors.initials: M
authors.lastname: Quezado
authors.forename: Stefania
authors.initials: S
authors.lastname: Pittaluga
authors.forename: Nicholas J
authors.initials: NJ
authors.lastname: Patronas
authors.forename: Amy D
authors.initials: AD
authors.lastname: Klion
authors.forename: Kim E
authors.initials: KE
authors.lastname: Nichols
mesh_terms: D000293:Adolescent; D000328:Adult; D002490:Central Nervous System / Q000276:immunology*; D020031:Epstein-Barr Virus Infections; D017809:Fatal Outcome; D040181:Genetic Diseases, X-Linked; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics; D042601:Lymphatic Vessels / Q000473:pathology*; D008232:Lymphoproliferative Disorders / Q000150:complications* / Q000276:immunology / Q000473:pathology; D008297:Male; D000071179:Signaling Lymphocytic Activation Molecule Associated Protein; D013601:T-Lymphocytes / Q000473:pathology; D014657:Vasculitis / Q000209:etiology*
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; C114953:SH2D1A protein, human; D000071179:Signaling Lymphocytic Activation Molecule Associated Protein