X-linked Lymphoproliferative Syndrome

Clinical Definition and Features

X-linked lymphoproliferative syndrome (XLP) is a disease which affects males who fail to have an effective immune response to Epstein-Barr virus (EBV) and thus develop fatal infections of mononucleosis, malignant lymphoma, or agammaglobulinemia.

Males with X-linked lymphoproliferative syndrome (XLP) are usually asymptomatic until they develop EBV infection, which may cause fulminant hepatitis (60% of patients), particularly in young children.

Barnabei et al. studied the frequency of chromosomal aberrations and sister chromatid exchanges (SCE) in affected males, their carrier mothers, and controls.

They observed an increased frequency of aberrations, including increased polyploidy, in EBV-transformed lymphoblastoid cell lines (LCLs) derived from families with XLP.

The aberrations consisted mainly of chromosomal gaps and breaks in the D group chromosomes, which ties in with the 14q+ chromosomal marker often associated with lymphoproliferative cancer.

However, no differences in the frequency of SCEs or chromosomal aberrations were observed in the controls and carrier Opens in new window females or affected males in the PHA-stimulated peripheral lymphocytes.

This disease does, therefore, not appear to arise from intrinsic chromosomal breakage or instability.

  1. Gaspar HB, Sharifi R, Gilmour KC, Thasher AJ. X-linked lymphoproliferative disease: clinical, diagnostic and molecular perspective. Br J Haematol (2002) 119:585-95. Doi:10.1046/j.1365-2141.2002.03851.x
  2. Purtilo DT, Sakamoto K, Barnabei V, Seeley J, Bechtold T, Rogers G, et al. Epstein-Barr virus-induced diseases in boys with the X-linked lymphoproliferative syndrome (XLP): update on studies of the registry. Am J Med (1982) 73:49-56. doi:10.1016/0002-9343(82)90923-8.
  3. Latour S, Gish G, Helgson CD, Humphries RK, Pawson T, Veillette A. Regulation of SLAM-mediated signal transduction by SAP, the X-linked lymphoproliferative gene product. Nat Immunol (2002) 2:681-90, doi:10.1038/90615.