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Prof. Mikko Seppänen, Chief Physician, Specialist in Internal Medicine and Infectious Diseases, Adjunct Professor HUS Helsinki University Hospital, Children and Adolescents, Rare Disease Center- and Inflammation Center, Adult Immunodeficiency Unit- Majakka, Helsinki
"Finnish PIDDs- unexpected autoinflammation in unexpected places"
Finns, a genetically-isolated population do to historical bottleneck events, carry relatively little genomic variation and enrichment of autosomal recessive “Finnish Disease Heritage” (FDH) genes. Some FDH PIDDs display features of inflammasome-mediated autoinflammation, potentially offering new therapeutic targets. Within CVID phenotype - also enriched in Finns - AD NFKB1 mutations cause autoinflammatory features that suggest long sought immunopathogenetic mechanisms of more common inflammatory diseases. A novel noncanonical inflammasomopathy “C/EBPε-associated autoinflammation and immune impairment of neutrophils” (CAIN) raises further interesting questionsFinns, a genetically-isolated population do to historical bottleneck events, carry relatively little genomic variation and enrichment of autosomal recessive “Finnish Disease Heritage” (FDH) genes. Some FDH PIDDs display features of inflammasome-mediated autoinflammation, potentially offering new therapeutic targets. Within CVID phenotype - also enriched in Finns - AD NFKB1 mutations cause autoinflammatory features that suggest long sought immunopathogenetic mechanisms of more common inflammatory diseases. A novel noncanonical inflammasomopathy “C/EBPε-associated autoinflammation and immune impairment of neutrophils” (CAIN) raises further interesting questions.
Host: Infection in Immunocompromised Pediatric Patients psoler@vhebron.net
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