Immunodeficiency

Immunodeficiency occurs when the immune system is weakened or does not function properly, reducing the body's ability to fight infections. Individuals with immunodeficiency may experience frequent illnesses, infections that last longer than expected, or infections that are unusually severe or difficult to treat.

Immunodeficiency can be primary, resulting from genetic or inherited abnormalities affecting the immune system, or secondary, developing due to other medical conditions, certain medications, or environmental factors. Secondary causes may include HIV infection, chemotherapy, immunosuppressive medications, and malnutrition.

Common signs and symptoms of immunodeficiency include recurrent sinus infections, ear infections, bronchitis, pneumonia, skin infections, persistent gastrointestinal symptoms, and frequent antibiotic use. Some individuals may also experience chronic fatigue, poor wound healing, or autoimmune complications.

There are numerous types of primary immunodeficiency disorders, including:

  • Specific Antibody Deficiency (SAD) and IgG Subclass Deficiency

  • Selective IgA Deficiency

  • Common Variable Immunodeficiency (CVID)

  • X-Linked Agammaglobulinemia (XLA)

  • Chronic Granulomatous Disease (CGD)

  • DiGeorge Syndrome (DGS)

  • Severe Combined Immunodeficiency (SCID)

These conditions vary in severity and may affect different components of the immune system. Early identification is important for preventing recurrent infections and long-term complications.

At Boston Specialists, we offer specialized diagnostic testing to evaluate immune system function and identify potential immunodeficiency disorders.

Streptococcus Pneumoniae Antibody Testing

One of our primary diagnostic methods involves blood testing to measure antibodies against Streptococcus pneumoniae, a bacterium associated with respiratory infections, including pneumonia and sinusitis. This test evaluates antibody levels against multiple pneumococcal serotypes (strains), helping determine whether the immune system has developed adequate protection. When combined with clinical history and additional laboratory testing, these results can help identify potential deficiencies in antibody production and immune function.

Natera Genetic Testing

For patients with suspected inherited or complex immunodeficiency disorders, we also offer genetic testing through Natera using a simple, noninvasive buccal (cheek) swab. This testing analyzes DNA for genetic abnormalities that may be associated with rare immune system disorders. Genetic testing can help identify an underlying inherited cause, clarify a diagnosis, and guide personalized treatment decisions when clinically appropriate.

Treatment for immunodeficiency depends on the specific disorder, the severity of immune dysfunction, and the patient's clinical history. Our goal is to strengthen protection against infections, reduce the frequency and severity of illness, and improve long-term immune health.

For eligible patients with inadequate pneumococcal antibody protection, Boston Specialists may recommend Prevnar 20 (PCV20), a pneumococcal conjugate vaccine that helps protect against 20 strains of Streptococcus pneumoniae. When clinically indicated, repeat pneumococcal antibody blood testing may be performed approximately 6 weeks after vaccination to evaluate changes in antibody levels and the patient's immune response.

Depending on the diagnosis, additional management strategies may include preventive or therapeutic antibiotics, immunoglobulin replacement therapy (IVIG or SCIG), and further evaluation by an immunology specialist. More complex immunodeficiency disorders may require specialized treatments and ongoing monitoring.

Early diagnosis and individualized treatment through Boston Specialists can help reduce recurrent infections, prevent complications, and improve overall quality of life.