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In Vivo Imaging Systems (IVIS) Detection of a Neuro-Invasive Encephalitic Virus
10:21

In Vivo Imaging Systems (IVIS) Detection of a Neuro-Invasive Encephalitic Virus

Published on: December 2, 2012

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

C K Cunningham1, C A Bonville, H D Ochs

  • 1Departments of Pediatrics and Pathology, State University of New York Health Science Center at Syracuse, New York, MD, USA.

The Journal of Pediatrics
|May 6, 1999
PubMed

Insights

Mutations in the CD40 ligand (CD40L) gene cause severe immune deficiency in children, leading to pneumonia and enteroviral encephalitis. This highlights CD40L

Area of Science:

  • Immunology
  • Genetics
  • Pediatrics

Background:

  • X-linked hyper IgM syndrome is a primary immunodeficiency characterized by defects in B cell class switching.
  • CD40 ligand (CD40L) is crucial for T cell-dependent B cell activation and immunoglobulin class switching.

Observation:

  • Five children from two families presented with recurrent infections, including pneumonia and enteroviral encephalitis.
  • Affected individuals exhibited absent CD40L expression on activated CD4+ T cells.
  • Genetic analysis revealed a shared single nucleotide insertion in the CD40L gene, causing a frameshift mutation.

Findings:

  • The identified CD40L gene mutation leads to absent CD40L expression, impairing immune responses.
  • Patients presented with interstitial pneumonia, low serum IgG, and opportunistic infections like Pneumocystis carinii pneumonia.
  • Despite immunoglobulin replacement therapy, three children developed enteroviral encephalitis, indicating a critical role for CD40L in viral defense.

Implications:

  • This study identifies a novel CD40L mutation causing X-linked hyper IgM syndrome with severe clinical manifestations.
  • The findings underscore the importance of CD40L in protecting against persistent enteroviral infections.
  • This research expands the understanding of primary immunodeficiencies and their genetic underpinnings.

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