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infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia

MONDO:0035529

Also known as:OAS1 deficiencyOAS1-related infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia

Overview

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.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia.

13 publications have been identified in PubMed for infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia. Research spans Basic Science / Preclinical (69%), Epidemiology / Natural History (15%), and Review / Meta-Analysis (8%).

Research Type	Count	% of Total
Laboratory research	9	69%

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 9:36 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:572428

GARD

Genetic and Rare Diseases Info Center

GARD:22313

Questions for Your Care Team

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infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia

Overview

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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