Caspase recruitment domain-containing protein 9 (CARD9) is an adaptor molecule in the cytosol of myeloid cells, required for induction of T-helper cells producing interleukin-17 (Th17 cells) and important in antifungal immunity. In a patient suffering from Candida dubliniensis meningoencephalitis, mutations in the CARD9 gene were found to result in the loss of protein expression. Apart from the reduced numbers of CD4(+) Th17 lymphocytes, we identified a lack of monocyte-derived cytokines in response to Candida strains. Importantly, CARD9-deficient neutrophils showed a selective Candida albicans killing defect with abnormal ultrastructural phagolysosomes and outgrowth of hyphae. The neutrophil killing defect was independent of the generation of reactive oxygen species by the reduced NAD phosphate oxidase system. Taken together, this demonstrates that human CARD9 deficiency results in selective defect in the host defense against invasive fungal infection, caused by an impaired phagocyte killing.

E. Scalais, C. Nuttin, S. Seneca, J. Smet, B. De Paepe, J.-J. Martin, R. Stevens, F. Pierart, O. Battisti, W. Lissens, L. De Meirleir and R. Van Coster Division of Paediatric Neurology, Department of Paediatrics, Centre Hospitalier de Luxembourg, Luxembourg; Center for Medical Genetics and Division of Paediatric Neurology, Academic Hospital of the Vrije Universiteit Brussel, Brussels; Division of Paediatric Neurology and Metabolism, Department of Paediatrics, Ghent University Hospital; Institute Born-Bunge, University of Antwerp, Antwerp; and CHC, Clinique Saint-Vincent, Rocourt, Belgium

No effective treatment has been demonstrated for patients with acute transverse myelopathy. In a multicentre controlled study, 12 children with severe acute transverse myelopathy were treated with intravenous methylprednisolone (IVMP) and compared with a historical group of 17 patients. The treatment had a significant effect on the proportion of patients walking independently at 1 month and on the proportion with full recovery at 1 year, with no differences in the frequency of complications between the two groups.

Hypoxic-ischemic (HI) events may cause permanent brain damage, and it is difficult to predict the long-term neurological outcome of survivors. Multimodality evoked potentials (MEPs), using flash visual (fVEPs), somatosensory (SEPs), and brain-stem auditory evoked potentials (BAEPs) may assess the cerebral function in term neonates. MEPs were recorded in 40 hypoxic-ischemic term or near-term neonates during the first week of life in order to predict the neurological outcome. A 3 point grading system registered either mild, moderate, or severe abnormalities. At 24 months of corrected age, the infants were assessed with a blind protocol to determine neurological development. Grade 0 fVEPs and SEPs were associated with a normal neurological status with 100% (P<0.001) of the infants. Abnormal SEPs or total grade (VEPs+SEPs)>I were not associated with normal outcomes (P<0.0001). Normal BAEPs did not predict a normal outcome, but severely abnormal BAEPs did predict an abnormal outcome. A significant correlation was found between EP (VEPs+SEPs) grade (r=0.9, P<0.0001), Sarnat stage (r=0.6, P<0.001), and clinical outcome. This study confirmed that both fVEPs and SEPs are more accurate as prognostic indicators for term neonates. EPs (VEPs+SEPs) also are more accurate in predicting the ultimate neurological outcome compared with the Sarnat scoring.