CD40 Ligand Deficiency

Neurologic Sequelae With Radiographic Correlation

Shrinivas Bishu, Deepak Madhavan, Phillip Perez, Lucy Civitello, Shuying Liu, Margaret Fessler, Steven M. Holland, Ashish Jain, Maryland Pao

Research output: Contribution to journalArticle

6 Citations (Scopus)

Abstract

Patients with CD40 ligand deficiency are susceptible to central nervous system infections, but to date the neurologic progression or long-term outcome of central nervous system complications have not been reported in detail. Characterizing the central nervous system complications of immune deficiencies can lead to the identification of new pathogens. For this study, clinical data were reviewed on patients with both CD40 ligand deficiency and neurodegeneration, identified from a larger cohort of 31 patients. Five patients had progressive neurologic and cognitive decline in the absence of clinical signs of acute fulminant encephalitis, with anatomic brain abnormalities and high mortality (60%). Despite multiple evaluations, no pathogens were identified in four patients, all of whom were on standard intravenous immunoglobulin therapy at illness presentation. This clinical phenotype of progressive decline without acute fulminant encephalitis is similar to chronic enteroviral encephalitis in X-linked agammaglobulinemia, another condition with severe humoral immune defects. Whether infection secondary to subtherapeutic levels of central nervous system immunoglobulin G (IgG), inadequately protective levels of serum IgG, or impaired CD40 ligand-dependent IgG-independent antiviral responses contributed remains undetermined. Emerging gene-chip techniques applied in patients with primary immune deficiencies may identify heretofore unknown viruses. Prospective neurocognitive and evaluation of patients with CD40 ligand deficiency may identify affected patients before overt clinical signs appear.

Original languageEnglish (US)
Pages (from-to)419-427
Number of pages9
JournalPediatric Neurology
Volume41
Issue number6
DOIs
StatePublished - Dec 1 2009

Fingerprint

CD40 Ligand
Encephalitis
Central Nervous System
Immunoglobulin G
Nervous System
Central Nervous System Infections
Passive Immunization
Intravenous Immunoglobulins
Oligonucleotide Array Sequence Analysis
Coinfection
Antiviral Agents
Viruses
Phenotype
Mortality
Brain
Serum

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Neurology
  • Developmental Neuroscience
  • Clinical Neurology

Cite this

Bishu, S., Madhavan, D., Perez, P., Civitello, L., Liu, S., Fessler, M., ... Pao, M. (2009). CD40 Ligand Deficiency: Neurologic Sequelae With Radiographic Correlation. Pediatric Neurology, 41(6), 419-427. https://doi.org/10.1016/j.pediatrneurol.2009.07.003

CD40 Ligand Deficiency : Neurologic Sequelae With Radiographic Correlation. / Bishu, Shrinivas; Madhavan, Deepak; Perez, Phillip; Civitello, Lucy; Liu, Shuying; Fessler, Margaret; Holland, Steven M.; Jain, Ashish; Pao, Maryland.

In: Pediatric Neurology, Vol. 41, No. 6, 01.12.2009, p. 419-427.

Research output: Contribution to journalArticle

Bishu, S, Madhavan, D, Perez, P, Civitello, L, Liu, S, Fessler, M, Holland, SM, Jain, A & Pao, M 2009, 'CD40 Ligand Deficiency: Neurologic Sequelae With Radiographic Correlation', Pediatric Neurology, vol. 41, no. 6, pp. 419-427. https://doi.org/10.1016/j.pediatrneurol.2009.07.003
Bishu S, Madhavan D, Perez P, Civitello L, Liu S, Fessler M et al. CD40 Ligand Deficiency: Neurologic Sequelae With Radiographic Correlation. Pediatric Neurology. 2009 Dec 1;41(6):419-427. https://doi.org/10.1016/j.pediatrneurol.2009.07.003
Bishu, Shrinivas ; Madhavan, Deepak ; Perez, Phillip ; Civitello, Lucy ; Liu, Shuying ; Fessler, Margaret ; Holland, Steven M. ; Jain, Ashish ; Pao, Maryland. / CD40 Ligand Deficiency : Neurologic Sequelae With Radiographic Correlation. In: Pediatric Neurology. 2009 ; Vol. 41, No. 6. pp. 419-427.
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