Primary immunodeficiency treatment options

Overview 

The term primary immunodeficiency (PIDD) describes a collection of more than 400 immune system-related conditions that increase a person's vulnerability to infections and specific illnesses. Typically, inherited genetic mutations impair immune function, resulting in these disorders.

Key Points:

Causes: Genetic mutations affecting immune system components like cells and proteins.

Symptoms: Recurrent infections, autoimmune diseases, swollen lymph nodes, weight loss, and digestive issues.

Examples: Common variable immunodeficiency (CVID), DiGeorge syndrome, chronic granulomatous disease (CGD), and selective IgA deficiency.

Treatment: Managing infections, replacing missing immune components, and, in some cases, gene therapy.

How are people affected?

People with primary immunodeficiency (PIDD) experience a weakened immune system, making them more vulnerable to infections and other health complications. 

They suffer from the following symptoms:

• Frequent & Severe Infections
• Frequent cases of skin infections, sinus infections, ear infections, meningitis, pneumonia, or bronchitis occur.
• Multiple courses of antibiotics are required for infections that persist longer than usual.
• People with a healthy immune system are typically not affected by opportunistic infections.

Other Health Complications

• Type 1 diabetes, rheumatoid arthritis, and lupus are examples of autoimmune diseases.
• Anemia and low platelet count are examples of blood disorders.
• These diseases can cause digestive issues such as chronic diarrhea, nausea, and loss of appetite.
• Particularly in children, these diseases can lead to delays in growth and development.

Long-Term Risks

• The immune system's role in preventing abnormal cell growth increases the risk of certain cancers.
• Some forms of PIDD are genetic, which means they can occur in families.
• Symptom management and quality of life can be enhanced by early diagnosis and treatment. 

How do people get PIDs?

Genetic mutations that affect the immune system typically cause Primary Immunodeficiency Disorders (PIDs). Parents can inherit these mutations from their offspring, or they may occur spontaneously. Here’s how people get PIDs:

Genetic Inheritance

• Families often pass down PIDs. If a parent carries a defective gene, their child may inherit it.
• Certain PIDs are dominantly inherited, which means that the disorder can be brought on by a single gene mutation in either parent.
• Others follow recessive inheritance, requiring mutations in both copies of a gene (one from each parent).

Spontaneous Mutations

• In some cases, a person develops a PID due to a new genetic mutation that wasn’t inherited.
• These mutations can occur randomly during fetal development.

Different PID types

• There are over 400 types of PIDs, ranging from mild to severe.
• Some PIDs are detected at birth, while others may not be diagnosed until adulthood.

Also, read https://www.sciencedirect.com/science/article/pii/S2352304219300698

Why are they called primary?

They're called primary immunodeficiency disorders (PIDs) because they are inborn, meaning they result from genetic mutations rather than external factors like infections, medications, or environmental exposure.

Why "Primary"?

• Genetic Origin: Inherited or spontaneous genetic mutations cause PIDs.
• Not Acquired: Unlike secondary immunodeficiencies (which develop due to conditions like HIV, chemotherapy, or malnutrition), PIDs are present from birth.
• Fundamental Immune Defects: They directly affect the immune system’s ability to function properly.

How serious is this condition?

Primary immunodeficiency (PIDD) can range from mild to severe, depending on the specific disorder and how much it affects the immune system. Some people may experience only occasional infections, while others may face life-threatening complications.

How Serious Is PIDD?

• Mild Cases: Some forms of PIDD may go unnoticed until adulthood, as symptoms are manageable and infections are not frequent.
• Moderate Cases: Individuals may experience recurrent infections, requiring frequent medical attention and antibiotics.
• Severe Cases: Some types of PIDD can lead to life-threatening infections, organ damage, or increased risk of autoimmune diseases and cancers.

Complications

• Infections can lead to frequent hospitalizations.
• When the immune system unintentionally targets the body, it leads to autoimmune disorders.
• Anemia or a low platelet count are examples of blood disorders.
• Children experience growth and developmental delays.
• The immune system contributes to the detection of abnormal cells, which increases the risk of certain cancers.
• Early diagnosis and treatment can significantly improve quality of life. 

How many people suffer from PIDs?

Primary immunodeficiency disorders (PIDs) affect approximately 6 million people worldwide. However, 70–90% of cases remain undiagnosed, so the actual number could be higher. Some estimates suggest that 1-2% of the population may have a form of PID when all types are considered.

Who looks after people with PIDs?

People with primary immunodeficiency disorders (PIDs) are cared for by a team of specialist doctors and nurses who focus on immunology—the study of the immune system.

Who Provides Care?

• Consultant Immunologists: Lead the treatment and management of PIDs.
• Immunology Clinical Nurse Specialists: Act as the main point of contact for patients.

Other Specialists: 

• Depending on symptoms, patients may also see respiratory (lung) physicians, gastroenterologists (gut specialists), and hematologists (blood specialists).

How Is Care Managed?

• Patients receive regular checkups to monitor their immune function.
• Blood tests are conducted to evaluate the health of the immune system.
• Antibiotics and immunoglobulin replacement therapy are examples of preventive treatments.
• For severe cases, doctors use advanced therapies such as bone marrow transplants, enzyme replacement therapy, and gene therapy.

What treatments are available?

Treatment for primary immunodeficiency (PIDD) focuses on managing infections, boosting the immune system, and addressing underlying causes. Here are the main options:

1. Managing Infections

• Antibiotics: Used aggressively to treat infections. Some people may need long-term antibiotics to prevent recurring infections.
• Antiviral & Antifungal Medications: Prescribed for specific infections.

2. Boosting the Immune System

• Immunoglobulin Therapy: Provides essential antibodies to fight infections. Every few weeks, either an intravenous (IV) infusion or a subcutaneous injection administers the therapy.
• Stem Cell Transplantation: A potential cure for some severe PIDD cases. Healthy stem cells replace defective immune cells.
• Gene Therapy: An emerging treatment that corrects genetic mutations causing PIDD.

3. Preventive Care

• Vaccines containing live viruses should be avoided by certain PIDD patients.
• Lifestyle Adjustments: Maintaining hygiene, avoiding exposure to infections, and following a nutritious diet.

Conclusion

Genetic illnesses known as primary immunodeficiency disorders (PIDs) impair immunity, leaving people more susceptible to autoimmune diseases and infections. While PIDs can range from mild to severe, early diagnosis and proper treatment, such as immunoglobulin therapy, antibiotics, stem cell transplantation, or gene therapy, can significantly improve quality of life.

Ongoing research and medical advancements offer hope for better treatments and potential cures. Raising awareness and ensuring timely medical care can help those affected lead healthier lives.