Orphanet: Syndrome auto inflammatoire avec infection bactérienne pyogénique et amylopectinose

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Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis

Disease definition

A rare, genetic, mixed autoinflammatory and autoimmune syndrome characterized by chronic systemic autoinflammation (presenting as recurrent fever in the neonatal or infantile period) and combined immunodeficiency (manifesting as recurrent viral and invasive bacterial infections). Muscular amylopectinosis may be subclinical or be complicated by myopathy/cardiomyopathy.


Classification level: Disorder
  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: -
  • OMIM: 615895
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information


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