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OBJECTIVE To determine the proportion of children with herpes simplex encephalitis (HSE) displaying TLR3 deficiency, the extent of TLR3 allelic heterogeneity, and the specific clinical features of TLR3 deficiency. METHODS We determined the sequence of all exons of TLR3 in 110 of the 120 patients with HSE enrolled in our study who do not carry any of the(More)
Antibody class-switch recombination and somatic hypermutation critically depend on the function of activation-induced cytidine deaminase (AID). Rare variants in its gene AICDA have been reported to cause autosomal recessive AID deficiency (autosomal recessive hyper-IgM syndrome type 2 (HIGM2)). Exome sequencing of a multicase Finnish family with an HIGM2(More)
Lohvansuu, Kaisa Brain responses to speech sounds in infants and children with and without familial risk for dyslexia Dyslexia, a specific reading disability, runs in families. Therefore, the risk for a child to become dyslexic increases multifold if reading difficulties occur in the family. One risk factor for dyslexia is a deficit in speech perception.(More)
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