Explore This Treatment Program

World-Class Care for Both Adults and Children

Primary immunodeficiencies are a group of more than 400 rare, chronic disorders that impact the ability of the body to fight infection. Onset can occur in childhood or early adulthood. Secondary immunodeficiencies, by contrast, occur after an additional immune stress that the body experiences. This may include a medication or even a prior infection. At Mass General, we provide expert care for both pediatric and adult patients with these rare disorders.

Adults who may have immune-function abnormalities are evaluated by our team at the Allergy and Clinical Immunology Clinic. Children are evaluated by our colleagues at the Pediatric Allergy and Immunology Clinic at MassGeneral Hospital for Children, also located at our downtown Boston campus.

By evaluating patients with these disorders at an early age, we strive to create effective, long-term treatment plans that enable children to grow into healthy adults. Additionally, when multiple family members are diagnosed with an immunodeficiency, both parents and their children benefit by receiving exceptional, ongoing care at a single location staffed by experienced and compassionate physicians and nurses.

What to Expect

Every immunodeficiency case is different. As a result, we tailor our diagnostic approach to your specific needs. At your first appointment, you (or your child) can expect an in-depth evaluation with one of our specialists. To diagnose an immunodeficiency disorder, we perform a physical examination and a thorough review of your medical history and your family's history.

Depending on your symptoms, we also may conduct:

  • Laboratory testing to evaluate overall immune function, which may include some or all of the following depending on your symptoms:
    • Tests for low antibody levels
    • Tests for low antibody function
    • Tests for low immune cell levels
    • Tests for low immune cell function
  • Screening for chronic infections and specific diseases associated with abnormal immune function
  • Skin testing for allergic diseases (a possible underlying trigger of chronic infections)

Only in cases where initial laboratory testing suggests low antibody levels or function, a vaccine challenge to more accurately identify an immunodeficiency may be recommended.

Following diagnosis, we develop an individualized treatment plan to help you enjoy a healthier and more comfortable quality of life.

Treatments Include IgG Replacement Therapy

Every immunodeficiency case is different. As a result, we tailor our therapeutic approach to your specific needs.

For patients with disorders affecting antibody numbers or function, such as common variable immunodeficiency and X-linked agammaglobulinemia, we may prescribe immunoglobulin G (IgG) replacement therapy. When IgG replacement therapy is required, frequency of administration and site of administration (for example at home versus in an infusion center) is tailored to best fit with a patient’s comfort and lifestyle to optimize quality of care.

Immunodeficiency Versus Autoimmune and Hyperinflammatory Diseases

Immunodeficiency is often confused with autoimmune and hyperinflammatory diseases. Patients with immunodeficiency have immune systems that are functionally impaired or absent. They also often have inadequate or malfunctioning antibodies (the immune-system molecules that protect against infection), which leads to recurring infections.

Autoimmune and hyperinflammatory diseases, on the other hand, may cause a patient’s immune system to attack his or her own organs. Autoimmune disease may include lupus, juvenile diabetes and rheumatoid arthritis. If your primary care physician believes you have an autoimmune disease, please contact the Mass General Rheumatology Unit for an evaluation from one of our expert rheumatologists.

Hyperinflammatory conditions that are not primarily treated by our practice include chronic fatigue syndrome, small fiber polyneuropathy, chronic Lyme disease, Pediatric Acute-onset Neuropsychiatric Syndrome (PANS), and Pediatric Autoimmune Neuropsychiatric Disorder Associated with Streptococcal infections (PANDAS). If your primary care physician believes you have small fiber polyneuropathy, please contact the Mass General Neurology Unit for an evaluation from one of our expert neurologists. If your primary care physician believes you have chronic Lyme disease, PANS, or PANDAS, please contact the Mass General Infectious Disease Unit for an evaluation from one of our expert infectious disease doctors.

About This Program

Specialized Care for Patients with Immunodeficiencies

Primary immunodeficiency disorders are chronic conditions characterized by recurring infections. Additionally, patients may have an increased frequency of auto-immune disorders and hematologic disorders. These disorders often are inherited and appear within the first few years of life, but some primary immunodeficiencies emerge in adulthood. About 1 in 10,000 people world-wide are affected by some form of primary immunodeficiency.

Complicating matters, more than 400 unique medical conditions qualify as a form of primary immunodeficiency. This wide range of diseases and related symptoms make primary immunodeficiency very difficult to diagnose. Since physicians throughout New England refer their most challenging cases to Mass General, we have developed the clinical expertise to evaluate patients with these disorders and tailor treatment plans that promote a better quality of life.

Treating the Complete Range of Disorders

Our program treats patients with defects involving various components of the immune system. Patients often experience defective or low levels of antibodies, immune-system molecules that protect against infection. A patient with a primary immunodeficiency typically experiences recurring infections that prevent him or her from leading a normal, productive and healthy life.

Many of these infections, such as bronchitis, chronic sinusitis, otitis and pneumonia, affect the sinopulmonary system (i.e. sinuses, middle ear and/or lungs). Others affect the gastrointestinal system, triggering symptoms such as chronic diarrhea.

We diagnose and manage care for patients with all types of PIDDs, including:

  • Common variable immunodeficiency
  • Severe combined immunodeficiency
  • X-linked agammaglobulinemiaSpecific immunoglobulin deficiencies such as immunoglobulin A (IgA) deficiency and immunoglobulin G (IgG) subclass deficiencies
  • Complement deficiencies
  • Idiopathic T cell lymphopenia
  • Chronic granulomatous disease
  • Mendelian Susceptibility to Mycobacterial Disease
  • A previously diagnosed genetic defect (e.g. CTLA4 deficiency, LRBA deficiency, Activating PI3K-delta Syndrome (APDS))

Please note: Primary immunodeficiencies are different than autoimmune and hyperinflammatory diseases.

Autoimmune disease may include lupus, juvenile diabetes and rheumatoid arthritis. If your primary care physician believes you have an autoimmune disease, please contact the Mass General Rheumatology Unit for an evaluation from one of our expert rheumatologists.

Hyperinflammatory conditions that are not primarily treated by our practice include chronic fatigue syndrome, small fiber polyneuropathy, chronic lyme disease, Pediatric Acute-onset Neuropsychiatric Syndrome (PANS), and Pediatric Autoimmune Neuropsychiatric Disorder Associated with Streptococcal infections (PANDAS). If your primary care physician believes you have small fiber polyneuropathy, please contact the Mass General Neurology Unit for an evaluation from one of our expert neurologists. If your primary care physician believes you have chronic lyme disease, PANS, or PANDAS, please contact the Mass General Infectious Disease Unit for an evaluation from one of our expert infectious disease doctors.

Multidisciplinary Care

Our patients have access to world-class clinicians from related specialties. We work closely with Mass General pulmonology specialists, giving patients with sinopulmonary illnesses convenient access to exams, tests and consultations. We often manage care for patients with recurring sinopulmonary infections in collaboration with ear, nose and throat specialists at the Massachusetts Eye and Ear, located next to our Boston campus. We share a suite with the Mass General Rheumatology Unit so patients with autoimmune diseases have convenient access to these physicians.

In addition, we treat patients with immunodeficiency who experience gastrointestinal symptoms such as chronic diarrhea or liver disease in partnership with our colleagues at the Mass General Gastrointestinal Unit. Similarly, we treat patients with abnormal blood cell counts in partnership with our hematology colleagues at the Mass General Cancer Center Hematology/Oncology Unit.

Active Research Program

We run an active research program in primary and secondary immunodeficiencies. All patients seen in our practice will have the opportunity to contribute to this research program, both by completing quality of life surveys as well as by having the opportunity to contribute a blood specimen. Our overarching goal is to improve our understanding of these rare disorders to directly improve the quality of life of our patients.