Immunodeficiency

What is Immunodeficiency?

Immunodeficiency is when the body’s immune system is not able to fight infections and diseases the way it should. Most cases of immunodeficiency are secondary, meaning they are acquired after birth. However, some people are born with defects in the immune system, which means that they have Primary Immunodeficiency (PID).

Primary Immunodeficiency includes a group of over 200 rare immune system disorders that result in a wide range of severity. PID is usually not diagnosed by physicians since it often presents itself as an ordinary infection. Physicians will usually treat the infection without discovering the underlying cause. Unfortunately, this makes the patient vulnerable to recurring infections which can lead to vital organ damage, physical disability and death. Often a late diagnosis results in secondary diseases (autoimmune), cancers (lymphomas), severe microbial resistance and structural damage.

Symptoms of Immunodeficiency

There are many signs and symptoms of Primary Immunodeficiency. The most common is an increased susceptibility to infections. A person with PID may have more frequent and severe infections that last longer than usual and are harder to treat than someone with a normal immune system. These patients also tend to get infections that a person with a healthy immune system would not get.

Signs and symptoms of primary immunodeficiency include:

  • Frequent pneumonia, bronchitis, sinusitis (sinus infection), ear infections and skin infections
  • Infection and inflammation of internal organs
  • Blood disorders such as anemia (low iron) or low platelet counts
  • Digestive problems such as cramping, diarrhea, nausea and loss of appetite
  • Delayed development and growth
  • Autoimmune disorders such as lupus, rheumatoid arthritis, and type 1 diabetes

10 Warning Signs of Primary Immunodeficiency

The Jeffrey Modell Institute created the 10 Warning Signs of PID to encourage early diagnosis.

Diagnosis and Testing for Immunodeficiency

If your doctor suspects immunodeficiency disorder, he or she will want to conduct a thorough medical evaluation including:

  • Medical history (including family history)
  • Genetic testing is recommended for families who have a known history of immunodeficiency
  • Physical exam
  • Blood Tests to confirm T-cell and white blood cell count
  • Antibody Test – A noninfectious foreign protein is introduced into the body through a vaccination. After 2-3 weeks, a blood test is conducted to evaluate levels of the following to determine the body’s ability to create antibodies:
    1. immunoglobulin levels
    2. the number of red blood cells and platelets
    3. the levels of specific antibodies
  • Skin Tests if the disease is thought to be related to T-cell
    1. Similar to a tuberculosis test where small amounts of a protein are injected under the skin to see if they cause a reaction


Treatment of Immunodeficiency

With appropriate treatment, many people with immunodeficiency can have a normal life span. However, some patients require intensive and frequent treatments throughout life. Others, such as those with severe combined immunodeficiency, can die during infancy unless they are given a bone marrow or stem cell transplant.

  • Periodic Immunoglobulin Treatment (antibody therapy) is done intravenously (IVIG) or subcutaneously (SCIG) to replace the antibodies in the body
  • Antibiotics are given at the first sign of infection and sometimes antibiotics are given as a preventative measure
  • Stem Cell and Gene Therapy
  • Bone Marrow Transplant (major and minor forms)
  • Interferon therapy
  • Steroid and immune modulator therapy


How TPIRC is Responding to the Immunodeficiency Landscape

Patients and their families struggling with Primary Immunodeficiency often do not know who to turn to for emotional support as well as clinical care and treatment. TPIRC recognizes this challenge.

TPIRC’s Clinical Goals

  • Achieving Jeffrey Modell Foundation Immunodeficiency accreditation and support
  • Establishing TPIRC as a local Immunodeficiency Foundation center of excellence
  • Collaborating with local infusion centers and home based infusion therapy companies to provide best access to care for patients
  • Collaborating with major pharmaceutical companies to design clinical trials applicable to less common immune deficiencies

TPIRC’s Novel Treatment Approaches

  • Disease specific immunotherapy
  • Organ specific immunotherapy
  • Bacteria specific immunotherapy
  • Post cancer treatment immunotherapy and immunomodulation
  • Immunodeficiency associated cancer screening
  • Immunodeficiency associated organ toxicity

TPIRC’s Advocacy Goals

    • Provide information to clinicians and patients
    • Develop clinical trials
  • Establish support groups

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