Deficiency Causing Dysregulation of NK Cell Functions and Presenting With Hemophagocytic Lymphohistiocytosis.

We describe a 2 year old boy with two previously undescribed frameshift mutations in the interferon (IFN)α/β receptor 2 () gene presenting with hemophagocytic lymphohistiocytosis (HLH) following measles-mumps-rubella vaccination. Functional analyses show the absence of response to type I IFN in the patient's cells, as revealed by the lack of phosphorylation of STAT1 and the lack of induction of interferon-stimulated genes upon stimulation with IFNα. HLH has been reported in patients with inborn errors of type I IFN-mediated immune responses following vaccination with live-attenuated viruses.

Smell and 3D Haptic Representation: A Common Pathway to Understand Brain Dynamics in a Cross-Modal Task. A Pilot OERP and fNIRS Study.

Cross-modal perception allows olfactory information to integrate with other sensory modalities. Olfactory representations are processed by multisensory cortical pathways, where the aspects related to the haptic sensations are integrated. This complex reality allows the development of an integrated perception, where olfactory aspects compete with haptic and/or trigeminal activations.

[Kawasaki syndrome. Clinical report of 5 cases].

The paper reports five cases of Kawasaki's syndrome diagnosed during the period 1985-89. The mean age of patients was 20 months (4/12; 4 years and 5/12). Symptomatology gradually regressed in four of these patients with a return to good health and normal cardiological controls.