About immunological disorders

The immune system plays a role in the control of cancer and other diseases, but also is the culprit in the phenomena of allergies, asthma, and recurrent infections such as sinus infections, pneumonia, ear infections, and bronchitis.

Our allergists/immunologists have specialized training and expertise to accurately diagnose and coordinate a treatment plan for you. Our physicians also assist in the general diagnosis and treatment of diseases like Primary Immunodeficiency Disease (PIDD) or Hereditary Angioedema (HAE), a unique enzyme deficiency disease, and may require collaboration with your primary physician and other specialists to provide the best possible individualized care plan for you.

Senior adult woman touching the neck feeling unwell coughing with sore throat pain


Hereditary Angioedema (HAE) is a very rare and potentially life-threatening genetic condition that occurs in about 1 in 10,000 to 1 in 50,000 people.

HAE symptoms include episodes of edema (swelling) in various body parts including the hands, feet, face and airway.

HAE patients have a defect in the gene that controls a blood protein called C1 Inhibitor. The genetic defect results in the production of either inadequate or non-functioning C1-Inhibitor protein.

Normal C1-Inhibitor helps to regulate the complex biochemical interactions of blood-based systems involved in disease-fighting, inflammatory response, and coagulation.

Because defective C1-Inhibitor does not adequately perform its regulatory function, a biochemical imbalance can occur and produce unwanted peptides that induce the capillaries to release fluids into surrounding tissue, thereby causing edema.

HAE is called hereditary because the genetic defect is passed on in families.

A child has a 50 percent chance of inheriting this disease if one of his or her parents has it.

The absence of family history does not rule out the HAE diagnosis, however. Scientists report that as many as 20 percent of HAE cases result from patients who had a spontaneous mutation of the C1-Inhibitor gene at conception. These patients can pass the defective gene to their offspring.


According to the leading experts in immunology, when part of the immune system is either absent or not functioning properly, it can result in an immune deficiency disease.

When the cause of this deficiency is hereditary or genetic, it is called a primary immunodeficiency disease (PIDD). Researchers have identified more than 150 different kinds of PIDD.

The immune system is composed of white blood cells. These cells are made in the bone marrow and travel through the bloodstream and lymph nodes. They protect and defend against attacks by “foreign” invaders such as germs, bacteria, and fungi.

In the most common PIDDs, different forms of these cells are missing. This creates a pattern of repeated infections, severe infections and/or infections that are unusually hard to cure. These infections may attack the skin, respiratory system, the ears, the brain or spinal cord, or the urinary or gastrointestinal tracts.

In some instances, PIDD targets specific and/or multiple organs, glands, cells, and tissues. For example, heart defects are present in some PIDDs. Other PIDDs alter facial features, some stunt normal growth and still others are connected to autoimmune disorders such as rheumatoid arthritis.


Patients often have bouts of excruciating abdominal pain, nausea, and vomiting that are caused by swelling in the intestinal wall.

Because of swelling in the intestinal wall, patients often have bouts of:

  • Excruciating abdominal pain
  • Nausea
  • Vomiting

Airway swelling is particularly dangerous and can lead to death by asphyxiation.

Because the disease is very rare, it is not uncommon for patients to remain undiagnosed for many years.

Many patients report that their frequent and severe abdominal pain was inappropriately diagnosed as psychosomatic, resulting in a referral for psychiatric evaluation.

Unnecessary exploratory surgery has been performed on patients experiencing gastrointestinal edema, because abdominal HAE attacks mimic a surgical abdomen. Before therapy became available, the mortality rate for airway obstruction was reportedly as high as 30 percent.


Great strides have been made within the last decade to help manage this life-long condition, and in an attempt to stay at the forefront of care options our clinical research affiliate, AllerVie Clinical Research, continues to conduct clinical research studies for HAE therapies.

FDA-approved medication for treating the symptoms of HAE became available in the US for the first time in late 2008.

Our immunologists have specialized training and expertise to accurately diagnose your condition and provide relief for your symptoms.