OBSOLETE: Immunoglobulin A1 deficiency

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ORPHA:99972
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Overview

Immunoglobulin A1 (IgA1) deficiency is a condition where the body does not produce enough of a specific type of antibody called IgA1. IgA is an important part of the immune system that helps protect the surfaces of the body, especially the lining of the nose, throat, lungs, and gut. IgA comes in two subtypes: IgA1 and IgA2. In this condition, the IgA1 subtype is specifically reduced or absent while IgA2 may be normal or also low. It is important to note that this specific diagnosis code (Orphanet 99972) has been marked as obsolete, meaning it is no longer used as a standalone classification. Patients previously diagnosed with IgA1 deficiency are now generally classified under the broader category of Selective IgA Deficiency (SIgAD). Selective IgA deficiency is the most common primary immunodeficiency in humans. People with IgA deficiency may experience frequent infections, particularly of the sinuses, ears, and lungs. Some individuals may also develop allergies, asthma, or autoimmune conditions. However, many people with IgA deficiency have no symptoms at all and may never know they have the condition. There is no cure for IgA deficiency. Treatment focuses on managing infections promptly with antibiotics and addressing any associated conditions like allergies or autoimmune problems. Importantly, IgA cannot be replaced through standard immunoglobulin infusions, so prevention and early treatment of infections are key strategies.

Also known as:

Key symptoms:

Frequent sinus infectionsRecurring ear infectionsRepeated lung infections or pneumoniaChronic diarrheaAllergies such as hay fever or food allergiesAsthmaAutoimmune conditions like celiac disease or lupusFrequent colds and upper respiratory infectionsBronchitisSkin rashes or eczemaDigestive problemsNo symptoms at all in many cases

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for OBSOLETE: Immunoglobulin A1 deficiency.

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No actively recruiting trials found for OBSOLETE: Immunoglobulin A1 deficiency at this time.

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No specialists are currently listed for OBSOLETE: Immunoglobulin A1 deficiency.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

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Community

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Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

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Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.How severe is my IgA deficiency, and do I have any IgA at all?,What is my risk of developing common variable immunodeficiency (CVID) over time?,Should I wear a medical alert bracelet about my IgA deficiency?,Do I need special blood products if I ever need a blood transfusion?,How often should I have my immunoglobulin levels rechecked?,Should my family members be tested for IgA deficiency?,When should I seek medical attention for an infection rather than treating it at home?

Common questions about OBSOLETE: Immunoglobulin A1 deficiency

What is OBSOLETE: Immunoglobulin A1 deficiency?

Immunoglobulin A1 (IgA1) deficiency is a condition where the body does not produce enough of a specific type of antibody called IgA1. IgA is an important part of the immune system that helps protect the surfaces of the body, especially the lining of the nose, throat, lungs, and gut. IgA comes in two subtypes: IgA1 and IgA2. In this condition, the IgA1 subtype is specifically reduced or absent while IgA2 may be normal or also low. It is important to note that this specific diagnosis code (Orphanet 99972) has been marked as obsolete, meaning it is no longer used as a standalone classification.