Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia
Name: |
Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia
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Description: |
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.
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ORPHAcode: |
572428
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Synonyms: |
OAS1 deficiency
OAS1-related infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia
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XREF(s): | |
Analyte(s): | |
Created: |
20 Aug 2021 - 01:14
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Changed: |
22 Jun 2023 - 16:14
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