pulmonary alveolar proteinosis with hypogammaglobulinemia

Findings

No curated finding names pulmonary alveolar proteinosis with hypogammaglobulinemia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Inheritance

Autosomal dominant inheritance

Onset and course

Death in infancy · Infantile onset · Death in childhood · Death in adolescence

HPO, annotations 2026-09-02

What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• hereditary disease
• respiratory system disorder

Resolves to: pulmonary alveolar proteinosis with hypogammaglobulinemia

Also called

immunodeficiency (due to OAS1 gain-of-function variant) with pulmonary alveolar proteinosis and hypogammaglobulinemiainfantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemiaOAS1 deficiencyOAS1-related infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemiaPAPHG