Immunodeficiencies in adults refer to conditions where the immune system’s ability to fight infectious diseases and cancer is compromised or entirely absent. These disorders can be either primary (genetic) or secondary (acquired).
What are Immunodeficiencies?
Immunodeficiencies are disorders where part of the immune system is either absent or not functioning properly. The immune system is crucial for protecting the body against infections, and when it is compromised, the body becomes more susceptible to illnesses.
Types of Immunodeficiencies
- Primary Immunodeficiencies (PIDs) – These are genetic or hereditary conditions present from birth. Examples include Common Variable Immunodeficiency (CVID) and Severe Combined Immunodeficiency (SCID).
- Secondary Immunodeficiencies – These are acquired due to external factors such as infections (e.g., HIV/AIDS), malnutrition, ageing, or medications that suppress the immune system (e.g., chemotherapy, steroids).
Symptoms of Immunodeficiencies
Symptoms of immunodeficiencies can vary widely depending on the specific condition but generally include:
Frequent Infections
- Recurrent Infections – Frequent infections that are often severe, difficult to treat, and longer-lasting than usual.
- Unusual Infections – Infections by uncommon pathogens or infections that a healthy immune system would typically control.
Other Symptoms
- Chronic Diarrhea – Ongoing diarrhoea can be a sign of an underlying immunodeficiency.
- Poor Wound Healing – Slow or non-healing wounds due to impaired immune function.
- Autoimmune Symptoms – Conditions where the immune system attacks the body’s own tissues, such as lupus or rheumatoid arthritis.
- Blood Disorders – Anemia or other blood abnormalities.
Causes of Immunodeficiencies
Primary Immunodeficiencies
- Genetic Mutations – Inherited genetic defects that affect the development or function of the immune system.
Secondary Immunodeficiencies
- Infections – HIV is the most well-known infection that can cause immunodeficiency.
- Medications – Immunosuppressive drugs, including chemotherapy agents and steroids.
- Chronic Diseases – Conditions such as diabetes, kidney disease, or cancer.
- Nutritional Deficiencies – Lack of essential nutrients that support immune function.
- Ageing – Natural decline in immune function with age.
Diagnosis
Diagnosing immunodeficiencies involves a thorough medical evaluation, including:
Medical History and Physical Examination
- Detailed History – Inquiry about the frequency and severity of infections, family history of immunodeficiencies, and any other related symptoms.
- Physical Exam – Examination for signs of infection, autoimmune disease, or other abnormalities.
Laboratory Tests
- Blood Tests – To check for low levels of immune cells (e.g., white blood cells, immunoglobulins) and to assess overall immune function.
- Specific Immune Function Tests – Such as lymphocyte proliferation tests, antibody response tests, and genetic testing for primary immunodeficiencies.
Imaging Studies
- Chest X-Rays or CT Scans – To check for lung infections or abnormalities in the organs of the immune system (e.g., thymus, spleen).
Specialised Tests
- Flow Cytometry – To analyse the number and type of immune cells.
- Bone Marrow Biopsy – To examine bone marrow function and rule out malignancies.
Immunodeficiencies Treatment Options
Treatment for immunodeficiencies aims to manage infections, boost the immune system, and address any underlying causes.
Medications
- Antibiotics and Antifungals – To treat and prevent infections.
- Antivirals – Especially for conditions like HIV/AIDS.
- Immunoglobulin Replacement Therapy – Regular infusions of antibodies for conditions like CVID.
- Growth Factors – These include the granulocyte colony-stimulating factor (G-CSF), which stimulates the production of white blood cells.
Lifestyle and Supportive Care
- Good Hygiene Practices – Regular handwashing, avoiding contact with sick individuals, and maintaining a clean environment.
- Healthy Diet – Eating a balanced diet rich in vitamins and minerals to support immune function.
- Vaccinations – Staying up to date with vaccinations to prevent infections, though live vaccines are usually avoided in people with immunodeficiency.
Advanced Treatments
- Bone Marrow or Stem Cell Transplant – For certain severe primary immunodeficiencies.
- Gene Therapy – An emerging treatment for some genetic immunodeficiencies.
- Immune Modulators – Drugs that help modulate or stimulate the immune system.
Managing and Living with Immunodeficiencies
Living with an immunodeficiency requires careful management and regular medical follow-ups to maintain health and prevent complications.
- Regular visits to healthcare providers to monitor immune function and overall health.
- To track immune cell counts and other relevant parameters.
- Stay away from known sources of infection, including crowded places during outbreaks.
- Properly cook and store food to avoid foodborne illnesses.
- Learning about the condition to better manage health and prevent infections.
- Have a clear plan for managing severe infections, including when to seek immediate medical help.
- Keep a supply of essential medications on hand.
Immunodeficiencies in adults can significantly impact quality of life, but with proper diagnosis, treatment, and management, individuals can lead healthy and fulfilling lives. Early recognition and intervention are key to preventing complications and improving outcomes. If you suspect you or a loved one may have an immunodeficiency, consult a healthcare provider for a thorough evaluation and personalised care plan. Working closely with medical professionals and adhering to recommended treatments can help manage the condition effectively.