Immunodeficiency due to selective anti-polysaccharide antibody deficiency

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Overview

Immunodeficiency due to selective anti-polysaccharide antibody deficiency (also called Specific Antibody Deficiency, or SAD) is a rare immune system disorder where the body cannot make enough of a specific type of antibody needed to fight certain bacteria. Normally, your immune system learns to recognize and attack bacteria that have a sugar-coated outer shell (called a polysaccharide capsule). In people with this condition, that learning process does not work properly, leaving them vulnerable to repeated infections — especially in the lungs, sinuses, and ears. The most common bacteria that cause problems are Streptococcus pneumoniae (pneumococcus) and Haemophilus influenzae. People with this condition often experience frequent ear infections, sinus infections, and pneumonia, sometimes starting in childhood. Unlike some other immune deficiencies, the overall antibody levels in the blood may look normal, which can make this condition easy to miss. Treatment focuses on preventing and managing infections. This may include preventive antibiotics, vaccination strategies, and in some cases immunoglobulin replacement therapy (giving the body ready-made antibodies through an infusion or injection). With proper management, most people can lead relatively normal lives, though ongoing medical monitoring is important.

Also known as:

Key symptoms:

Frequent ear infections (otitis media)Recurring sinus infections (sinusitis)Repeated lung infections or pneumoniaChronic coughHearing loss from repeated ear infectionsFatigue and low energySlow recovery from respiratory illnessesBronchiectasis (permanent widening and scarring of the airways from repeated infections)Wheezing or asthma-like symptoms

Clinical phenotype terms (19)— hover any for plain English
Decreased specific anti-polysaccharide antibody levelHP:0002848Decreased specific antibody response to polysaccharide vaccineHP:0410299Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccineHP:0410300Decreased specific antibody response to protein-conjugated polysaccharide vaccineHP:0410302Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccineHP:0410303RhinitisHP:0012384Decreased proportion of memory B cellsHP:0030374Recurrent bacterial upper respiratory tract infectionsHP:0031949Recurrent upper and lower respiratory tract infectionsHP:0200117Recurrent bacterial meningitisHP:0007274Decreased total B cell countHP:0010976Abnormal circulating IgA concentrationHP:0410240Abnormal circulating IgG concentrationHP:0410242Abnormal circulating IgM concentrationHP:0410243Complete or near-complete absence of specific antibody response to tetanus vaccineHP:0410295
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 Immunodeficiency due to selective anti-polysaccharide antibody deficiency.

View clinical trials →

No actively recruiting trials found for Immunodeficiency due to selective anti-polysaccharide antibody deficiency at this time.

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Search ClinicalTrials.gov ↗Join the Immunodeficiency due to selective anti-polysaccharide antibody deficiency community →

Specialists

2 foundView all specialists →
KN
Kerri Sowers, PT, DPT, NCS
Specialist
PI on 1 active trial

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

No travel grants are currently matched to Immunodeficiency due to selective anti-polysaccharide antibody deficiency.

Search all travel grants →NORD Financial Assistance ↗

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.How severe is my (or my child's) antibody deficiency, and do I need immunoglobulin replacement therapy?,Which vaccines should I receive, and will they actually work given my immune condition?,Should I take daily preventive antibiotics, and if so, for how long?,How will we know if my condition is getting better or worse over time?,What signs of infection should prompt me to go to the emergency room rather than wait for a regular appointment?,Is there a chance my child will outgrow this condition?,Are there any clinical trials or new treatments I should know about?

Common questions about Immunodeficiency due to selective anti-polysaccharide antibody deficiency

What is Immunodeficiency due to selective anti-polysaccharide antibody deficiency?

Immunodeficiency due to selective anti-polysaccharide antibody deficiency (also called Specific Antibody Deficiency, or SAD) is a rare immune system disorder where the body cannot make enough of a specific type of antibody needed to fight certain bacteria. Normally, your immune system learns to recognize and attack bacteria that have a sugar-coated outer shell (called a polysaccharide capsule). In people with this condition, that learning process does not work properly, leaving them vulnerable to repeated infections — especially in the lungs, sinuses, and ears. The most common bacteria that c

Which specialists treat Immunodeficiency due to selective anti-polysaccharide antibody deficiency?

2 specialists and care centers treating Immunodeficiency due to selective anti-polysaccharide antibody deficiency are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.