Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis


Engelsk navn: Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis


Definisjon

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.

Fra Orphanet

ORPHA: 329173
Klassifiseringsnivå: Disorder
ICD-10: D89.8

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Mer informasjon

Senter for sjeldne diagnoser ved OUS har kunnskap om diagnosen.
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