Living with Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia
A rare genetic lung disease starting in infancy with repeated infections, low antibodies, and breathing trouble.
Understanding Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia
Babies have normal breathing at birth, then develop repeated infections, mainly viral, and worsening breathing trouble. Other reported features are a high white blood cell count and an enlarged spleen.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Repeated respiratory infections
- Breathing trouble (respiratory insufficiency)
- Buildup of fatty material in the lung air sacs
- Enlarged spleen
- High white blood cell count
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include allergy and immune system specialists, genetic specialists and lung and breathing specialists.
- 3Consider genetic testing
Changes in OAS1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Immune Deficiency Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Allergy and immune system specialists (allergists / immunologists); Genetic specialists (geneticists); Lung and breathing specialists (pulmonologists)
- Expert care
- Expert lists: Immune Deficiency Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Immune Deficiency Foundation
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the OAS1 gene cause this condition. It is inherited in an autosomal dominant pattern, meaning one changed copy of the gene can be enough.
Also known as: 2'-5'-oligoadenylate synthetase 1-related infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia; infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia; oas1 deficiency; oas1-related infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia; oas1-related infantile-onset pulmonary alveolar proteinosis, hypogammaglobulinemia
Patient organizations
- Immune Deficiency FoundationPrimary immunodeficiency · United States
Broader rare-disease groups
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia.
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