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.

journal_name

Int J Hematol

authors

Hoshino T,Kanegane H,Doki N,Irisawa H,Sakura T,Nojima Y,Miyawaki S,Miyawaki T

doi

10.1532/IJH97.05020

subject

Has Abstract

pub_date

2005-07-01 00:00:00

pages

55-8

issue

1

eissn

0925-5710

issn

1865-3774

pii

BY1BPJH0GBXE9HDX

journal_volume

82

pub_type

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