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Immune Deficiency Disorders Program

The Massachusetts General Hospital Immune Deficiency Disorders Program diagnoses and treats adults and children with all forms of these clinically rare illnesses, including primary immune deficiency disorders (PIDDs).

World-Class Care for Both Adults & Children

Primary immune deficiency disorders (PIDDs) typically emerge during childhood, but they sometimes appear for the first time in adult patients. In some cases, patients inherit PIDDs from their parents. 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 have PIDDs, 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 and therapeutic approaches 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 a PIDD, 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, including tests for antibody deficiencies or irregularities
  • Screening for chronic infections and specific diseases associated with abnormal immune function
  • Skin testing for allergic diseases (a possible underlying trigger of chronic infections)

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

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. An infusion of IgG boosts antibody levels in your body temporarily, meaning you must return for therapy every three to four weeks.

Many insurers require you to receive IgG therapy at a hospital. For your convenience, the Mass General Blood Transfusion Service, located at our Boston campus, offers outpatient IgG therapy administered by experienced clinicians.

PIDDs Versus Autoimmune Diseases

PIDDs are often confused with autoimmune diseases. Patients with PIDDs 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 diseases, on the other hand, cause patients' antibodies to attack their own organs. Many autoimmune illnesses can be serious or life-threatening, including lupus, juvenile diabetes and rheumatoid arthritis.

If your primary care physician suspects you have an autoimmune disease, please contact the Mass General Rheumatology Unit for an evaluation from one of our expert rheumatologists.

Specialized Care for Patients with Immune Deficiencies

Primary immune deficiency disorders (PIDDs) are chronic conditions characterized by recurring infections. Patients with PIDDs also may have an increased frequency of auto-immune disorders and hematological malignancies. These disorders often are inherited and appear within the first few years of life, but some PIDDs emerge in adulthood. About 250,000 people in the United States are affected by PIDDs.

Complicating matters, the World Health Organization recognizes more than 150 medical conditions as PIDDs. This wide range of diseases and related symptoms make PIDDs 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 PIDD 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. Left untreated, a PIDD can permanently damage infected parts of the body.

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

  • Common variable immunodeficiency
  • Severe combined immunodeficiency
  • X-linked agammaglobulinemia
  • Specific immunoglobulin deficiencies such as immunoglobulin A (IgA) deficiency and immunoglobulin G (IgG) subclass deficiencies

Please note: PIDDs are different than autoimmune diseases, which 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.

Unlike PIDDs, secondary immune deficiency disorders are acquired after birth (or in the womb when the mother is affected). One example of a secondary immunodeficiency is acquired immunodeficiency syndrome (AIDS), which is caused by the human immunodeficiency virus (HIV). Patients diagnosed with AIDS or HIV should contact our colleagues at the Mass General Division of Infectious Disease.

Multidisciplinary Care

Our patients have access to world-class clinicians from related specialties. We work closely and share a suite 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 Infirmary, located next to our Boston campus.

In addition, we treat patients with PIDDs who experience gastrointestinal symptoms such as chronic diarrhea in partnership with our colleagues at the Mass General Gastrointestinal Unit.

Educating the Next Generation

We are dedicated to preparing the next generation of academic clinicians and basic scientists in allergy and immunology. Fellows in the Allergy and Immunology Training Program receive clinical training in adult and pediatric immune deficiency disorders and all other major allergic and immunologic conditions.

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