Enteroviral meningoencephalitis as a complication of X-linked hyper IgM syndrome.

Journal Article (Journal Article)

We describe 5 children from 2 families with mutations in the CD40 ligand (CD40L) gene leading to absent expression of CD40L on activated CD4 cells. All subjects presented with interstitial pneumonia with low serum IgG and normal serum IgM. One child had normal and one child had elevated serum IgA. Four had confirmed Pneumocystis carinii pneumonia. In spite of intravenous immunoglobulin treatment yielding therapeutic serum immunoglobulin levels, 3 children had enteroviral encephalitis. When assessed by flow cytometry, the 3 surviving affected male children had absent CD40L expression on activated CD4(+) T cells. The affected children from both families were shown to have the same single nucleotide insertion (codon 131) resulting in frameshift and early termination within exon 4 (extracellular domain). This observation demonstrates that persistent enteroviral infection is not only observed in X-linked agammaglobulinemia but may also occur in patients with X-linked hyper IgM syndrome.

Full Text

Duke Authors

Cited Authors

  • Cunningham, CK; Bonville, CA; Ochs, HD; Seyama, K; John, PA; Rotbart, HA; Weiner, LB

Published Date

  • May 1999

Published In

Volume / Issue

  • 134 / 5

Start / End Page

  • 584 - 588

PubMed ID

  • 10228294

International Standard Serial Number (ISSN)

  • 0022-3476

Digital Object Identifier (DOI)

  • 10.1016/s0022-3476(99)70245-3


  • eng

Conference Location

  • United States