Overview
Autosomal non-syndromic agammaglobulinemia is a rare inherited immune system disorder where the body cannot make enough antibodies — the proteins that fight off infections. Unlike the more well-known X-linked form of agammaglobulinemia (called Bruton's disease, which mainly affects boys), this autosomal form can affect both males and females equally. The condition is sometimes called autosomal agammaglobulinemia or non-Bruton agammaglobulinemia. In this disease, a key type of immune cell called B cells either fails to develop properly or is present in very low numbers. B cells are responsible for making antibodies, so without them, the immune system struggles to defend the body against bacteria, viruses, and other germs. This leaves affected people highly vulnerable to repeated and serious infections, especially of the lungs, sinuses, ears, and digestive system. The main treatment is regular infusions of immunoglobulin (antibodies collected from healthy donors), which helps replace the missing antibodies and greatly reduces the risk of serious infections. With consistent treatment and careful monitoring, many people with this condition can live relatively normal lives, though lifelong therapy is required. Early diagnosis is very important to prevent organ damage from repeated infections.
Key symptoms:
Repeated bacterial infections, especially pneumonia and sinus infectionsFrequent ear infectionsChronic diarrhea or stomach infectionsVery low or absent levels of antibodies in the bloodFew or no B cells (a type of immune cell) in the bloodSlow recovery from infections that most people fight off easilyInfections caused by unusual germs that healthy immune systems normally handleSwollen lymph nodes or spleen in some casesFailure to thrive or poor growth in infantsJoint pain or swelling due to infections spreading to joints
Clinical phenotype terms (29)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for Autosomal non-syndromic agammaglobulinemia.
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Specialists
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Autosomal non-syndromic agammaglobulinemia.
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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Family & Caregiver Grants
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.Which gene is causing my condition, and what does that mean for my family members?,Should my siblings or parents be tested for this condition?,What type of immunoglobulin therapy is best for me — intravenous or subcutaneous — and can I do it at home?,How often should I have my lung function and antibody levels checked?,Are there any vaccines I should or should not receive?,What infections should prompt me to go to the emergency room right away?,Are there any clinical trials or new treatments I should know about?
Common questions about Autosomal non-syndromic agammaglobulinemia
What is Autosomal non-syndromic agammaglobulinemia?
Autosomal non-syndromic agammaglobulinemia is a rare inherited immune system disorder where the body cannot make enough antibodies — the proteins that fight off infections. Unlike the more well-known X-linked form of agammaglobulinemia (called Bruton's disease, which mainly affects boys), this autosomal form can affect both males and females equally. The condition is sometimes called autosomal agammaglobulinemia or non-Bruton agammaglobulinemia. In this disease, a key type of immune cell called B cells either fails to develop properly or is present in very low numbers. B cells are responsible
How is Autosomal non-syndromic agammaglobulinemia inherited?
Autosomal non-syndromic agammaglobulinemia follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Autosomal non-syndromic agammaglobulinemia typically begin?
Typical onset of Autosomal non-syndromic agammaglobulinemia is infantile. Age of onset can vary across affected individuals.