Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia


Engelsk navn: Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia
Engelske synonym: OAS1 deficiency,OAS1-related infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia


Definisjon

A rare genetic respiratory disease characterized by infantile onset of pulmonary alveolar proteinosis with hypogammaglobulinemia. Patients have normal respiratory function at birth, but subsequently develop recurrent, mainly viral, infections and progressive respiratory failure, often leading to death in infancy or early childhood. Additional reported features include leukocytosis and splenomegaly.

Fra Orphanet

ORPHA: 572428
Klassifiseringsnivå: Disorder
ICD-10: J84.0

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Mer informasjon

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