title: X-linked lymphoproliferative disease in an adult.
abstract: X-linked lymphoproliferative disease (XLP) is an inherited immunodeficiency characterized by an extreme susceptibility to Epstein-Barr virus (EBV) infection. Patients with XLP mainly present with the 3 clinical manifestations of fulminant infectious mononucleosis, lymphoproliferative disorder, and dysgammaglobulinemia and in rare cases have aplastic anemia and lymphocytic vasculitis. The causative gene for XLP was identified as SH2D1A/DSHP/SLAM-associated protein (SAP) in 1998, and genetic analysis has been used for the definite diagnosis of XLP. Diagnosis for most patients occurs at ages younger than 10 years, and there are few adult patients. Here we describe a 23-year-old man with hypogammaglobulinemia and EBV-associated hemophagocytic lymphohistiocytosis and a diagnosis of XLP. In addition, the patient showed type 1 helper T-cell (Th1) skewing, as has been described in Sap knock-out mice. Th1/Th2 imbalance in humans, as well as in mice, may play an important role in the pathogenesis of XLP.
authors.affiliation: Division of Hematology, Gunmaken Saiseikai Maebashi Hospital, Maebashi, Japan.
authors.forename: Takumi
authors.initials: T
authors.lastname: Hoshino
authors.forename: Hirokazu
authors.initials: H
authors.lastname: Kanegane
authors.forename: Noriko
authors.initials: N
authors.lastname: Doki
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Irisawa
authors.forename: Tohru
authors.initials: T
authors.lastname: Sakura
authors.forename: Yoshihisa
authors.initials: Y
authors.lastname: Nojima
authors.forename: Shuichi
authors.initials: S
authors.lastname: Miyawaki
authors.forename: Toshio
authors.initials: T
authors.lastname: Miyawaki
mesh_terms: D000328:Adult; D000361:Agammaglobulinemia / Q000209:etiology* / Q000473:pathology; D020031:Epstein-Barr Virus Infections / Q000150:complications*; D006801:Humans; D008232:Lymphoproliferative Disorders / Q000150:complications / Q000473:pathology* / Q000821:virology; D008297:Male; D006377:T-Lymphocytes, Helper-Inducer; D018417:Th1 Cells