Common Variable Immunodeficiency – Symptoms and Causes

What Is Common Variable Immunodeficiency?

Common Variable Immunodeficiency (CVID) is a primary immune disorder where the body cannot make enough antibodies to fight infections.

It affects about 1 in 25,000 people and can develop at any age, though it’s most often diagnosed in adults between 20-40 years old.

People with CVID get frequent infections, especially in the sinuses, lungs, and ears. These infections can cause long-term damage if not treated properly. Many patients also experience extreme fatigue that interferes with daily activities.

CVID can affect other body systems too. About 25% of patients develop autoimmune conditions like thyroid disease or inflammatory bowel disease. Some may have enlarged lymph nodes or spleen, and a small percentage face an increased risk of certain cancers.

The exact cause of CVID remains unclear in most cases. Scientists believe genetic factors play a role, as about 10-20% of patients have family members with immune problems.

Several gene mutations have been identified, but most cases don’t have a clear genetic explanation.

Diagnosis typically involves blood tests to check antibody levels and immune cell counts. Treatment focuses on preventing infections through regular immunoglobulin replacement therapy and prompt use of antibiotics when needed.

Symptoms

People with common variable immunodeficiency (CVID) often experience frequent infections as their primary symptom. These infections commonly affect the sinuses, lungs, ears, and digestive system.

Many patients suffer from repeated bouts of pneumonia, bronchitis, and sinusitis that may not respond well to standard treatments.

Digestive problems are also common in CVID. These may include persistent diarrhea, weight loss, and poor absorption of nutrients. Some people develop nausea, bloating, or abdominal pain after eating certain foods.

Common symptoms include:

• Recurring respiratory infections (pneumonia, bronchitis)
• Frequent sinus infections
• Ongoing ear infections
• Persistent digestive issues (diarrhea, malabsorption)
• Enlarged lymph nodes
• Unexplained fatigue

Skin problems sometimes occur with CVID. These may include rashes, unusual pigmentation, or fungal infections that are difficult to treat. Mouth sores and eye inflammation can develop in some cases.

Causes

Common variable immunodeficiency (CVID) develops from several different factors. Genetic mutations play a key role in about 10-20% of cases. These mutations affect genes that control B-cell development and antibody production.

Family history increases risk, as CVID sometimes runs in families. However, most cases appear randomly without any family connection. This suggests both genetic and environmental factors contribute to the condition.

Immune system abnormalities form the core problem in CVID. The main issues include:

• Defective B-cells that cannot mature properly
• Poor communication between immune cells
• Reduced ability to produce antibodies against infections

Some researchers believe that certain infections might trigger CVID in people who are already genetically susceptible. Viruses like Epstein-Barr virus have been studied as possible triggers.

Age-related changes also matter. While CVID can develop at any age, it most commonly appears in adults between 20-40 years old. Sometimes symptoms start in childhood but aren’t diagnosed until years later.

Complications

People with Common Variable Immunodeficiency (CVID) often face several health complications beyond the primary symptoms. Infections frequently recur and may cause lasting damage to organs, especially the lungs.

Many patients develop bronchiectasis, a condition where airways become damaged and widened, making it harder to clear mucus.

Autoimmune disorders occur in about 25% of CVID patients. The immune system mistakenly attacks healthy cells, leading to problems like inflammatory bowel disease, rheumatoid arthritis, or autoimmune blood disorders.

Digestive problems are common complications. These may include:

• Chronic diarrhea
• Malabsorption of nutrients
• Inflammation of the intestines
• Weight loss

Cancer risk increases in people with CVID. Lymphoma, a cancer affecting lymphatic tissue, occurs more frequently in these patients than in the general population.

Granulomas (small clusters of inflammatory cells) can form in various organs, including the lungs, liver, and spleen. These can disrupt normal organ function and cause additional health problems.

CVID patients have a higher chance of developing mental health issues like anxiety and depression. The chronic nature of the condition, frequent illnesses, and lifestyle limitations contribute to psychological stress.

When to Get Medical Help

If you have symptoms of common variable immunodeficiency (CVID), it’s important to know when to contact a healthcare provider. Don’t wait to seek medical attention if you experience any of these warning signs.

Call your doctor if you have:

• Frequent infections that don’t respond to treatment
• Infections that keep coming back
• Pneumonia that occurs more than once
• Sinus infections that last longer than usual
• Unexplained weight loss
• Ongoing digestive problems

Seek immediate medical care if you experience:

• High fever (over 101°F or 38.3°C)
• Difficulty breathing
• Severe chest pain
• Signs of infection that worsen despite antibiotics

People with CVID often have a weakened immune system. This means infections might become serious more quickly than in others.

Your doctor might refer you to an immunologist, a specialist who treats immune system disorders. Keep a record of your symptoms and infections to share during your appointment.