common variable immunodeficiency

Common Variable Immunodeficiency (CVID): A Primary Immune Deficiency Disease

Common Variable Immunodeficiency (CVID) is a primary immune deficiency disease characterized by low levels of protective antibodies and an increased risk of infections. This condition affects the body's ability to produce sufficient antibodies, making it harder for the immune system to fight off pathogens.

Key Features:

• Low levels of protective antibodies
• Increased risk of infections, particularly in the ears, sinuses, nose, and lungs [1][2]
• Frequent bacterial infections due to impaired antibody responses [5]
• Chronic lung disease and inflammation are common symptoms [11]

Causes and Genetics:

CVID is a genetic disorder that can be inherited from parents. The defects in DNA can cause the immune system to produce very low levels of antibodies, specifically immunoglobulins and IgG [13]. This impairment leads to an increased susceptibility to infections.

Symptoms:

• Chronic cough
• Coughing up blood
• Difficulty breathing due to frequent sinus and lung infections [12]
• Gastrointestinal issues and risk for cancer, lung conditions, and autoimmune diseases [2]

Diagnosis:

Diagnosis of CVID is usually confirmed by abnormal blood test results and medical history. Most people with CVID have a history of frequent infections due to their reduced antibody responses.

References:

[1] Common variable immunodeficiency (CVID) is a group of genetic diseases where your immune cells don’t make antibodies. Without antibodies, people with CVID get frequent infections.

[2] It can also cause gastrointestinal issues and put you at risk for cancer, lung conditions, and autoimmune diseases.

[3] Common variable immune deficiency (CVID), previously known as adult-onset hypogammaglobulinemia, is one of the most frequently diagnosed primary immunodeficiencies.

[4] Common variable immunodeficiency is a disorder characterized by defective B cell function leading to impaired immunoglobulin production.

[5] Common variable immunodeficiency ... the following: (1) low levels of most or all of the immunoglobulin (Ig) classes, (2) a lack of B lymphocytes or plasma cells that are capable of producing antibodies, and (3) frequent bacterial infections.

[6] Common variable immune deficiency (CVID) is a disorder that impairs the immune system. Explore symptoms, inheritance, genetics of this condition.

[7] Common variable immune deficiency (CVID) is a type of primary immunodeficiency, which is defined as an immune system dysfunction typically caused by a variant in a gene or genes.

[8] In this condition passed through families, the immune system doesn't make enough antibodies to fight infections.

[9] Diagnosis of CVID is usually confirmed by abnormal blood test results and medical history. Most people with CVID have frequent infections due to their reduced antibody responses.

[10] Result: (data not available)

[11] Common variable immunodeficiency (CVID) is an inborn immune disorder characterized by recurrent infections and low antibody levels, specifically in immunoglobulin (Ig) types IgG, IgM, and IgA. Symptoms generally include high susceptibility to pathogens, chronic lung disease, as well as inflammation ...

[12] People with common variable immunodeficiency may have a chronic cough, cough up blood, or have difficulty breathing (due to frequent sinus and lung infections) ...

[13] This means there might be added or missing information in your DNA. The defects can cause your immune system to produce very low levels of antibodies in your blood called immunoglobulins and immunoglobulin G (IgG) – the proteins that help your body fight infections.

[14] Common variable immunodeficiency is an immunodeficiency disorder characterized by very low antibody (immunoglobulin) levels despite a normal number of B cells (the type of white blood ...

Common variable immunodeficiency (CVID) is characterized by a range of signs and symptoms that can vary in severity and frequency among affected individuals.

Recurrent Infections

• Repeated sinus, lung, and respiratory infections are common in people with CVID [8][7][12]. These infections can cause:
  • Sinus congestion and pressure
  • Coughing and shortness of breath
  • Difficulty breathing
• Frequent lung infections can lead to bronchiectasis, a condition where the airways become widened (dilated), making it harder to clear mucus and move air [11].

Gastrointestinal Problems

• Gastrointestinal issues such as:
  • Chronic diarrhea
  • Weight loss
  • Nausea
  • Vomiting
  • Abdominal pain can also be present in some forms of CVID [4][6].

Other Symptoms

• People with CVID may experience:
  • A chronic cough that can lead to coughing up blood
  • Increased risk of malignancy (cancer)
  • Autoimmune disorders, such as rheumatoid arthritis or lupus
  • Chronic lung disease

It's essential to note that the symptoms and signs of CVID can vary widely among individuals, and not everyone will experience all of these issues. If you suspect you or a loved one may have CVID, consult with a healthcare professional for proper diagnosis and treatment.

References: [4] - Gastrointestinal problems including chronic diarrhea, weight loss, nausea, vomiting and abdominal pain can also be present. [6] - Common variable immunodeficiency ... with heterogeneous clinical manifestations such as recurrent infections, chronic lung disease, autoimmune disorders, gastrointestinal disease, or increased risk of malignancy.... [7] - Symptoms and Signs of CVID ... Patients with CVID have recurrent sinopulmonary infections that cause sinus congestion and pressure, cough, shortness of breath, ... [8] - Signs and symptoms of CVID​​ Symptoms may include: Repeated sinus, lung and respiratory infections. [11] - People may develop a chronic cough, cough up blood, or have difficulty breathing. People with common variable immunodeficiency who have frequent lung infections can develop bronchiectasis in which the airways become widened (dilated), making it more difficult to clear mucus and to move air ... [12] - August 8, 2019 - It’s the most common primary immunodeficiency in adults. Most people are diagnosed as adults, but symptoms can start in childhood. The most common sign of CVID is frequent infections — most commonly, sinusitis, pneumonia, bronchitis, ear infections and shingles.

Diagnosing Common Variable Immunodeficiency (CVID)

Diagnosing CVID involves a combination of laboratory tests and medical history evaluation. Here are the key diagnostic tests used to confirm CVID:

• Laboratory testing: This includes measuring serum levels of antibodies, such as immunoglobulins (IgG, IgA, and IgM), which are essential for fighting infections [2][3]. Low levels of these proteins can indicate a deficiency in antibody production.
• Complete Blood Count (CBC): A CBC test measures the number of white blood cells, red blood cells, and platelets in the blood. This test is often used to rule out other conditions that may be causing symptoms similar to CVID [4].
• C-reactive protein test: This test measures the level of C-reactive protein (CRP) in the blood, which can indicate inflammation or infection.
• Liver function tests: These tests evaluate how well the liver is functioning and can help rule out other conditions that may be causing symptoms similar to CVID [4].
• Kidney function tests: These tests assess how well the kidneys are functioning and can help rule out other conditions that may be causing symptoms similar to CVID [4].

Confirming Diagnosis

A diagnosis of CVID is usually confirmed by abnormal blood test results, medical history, and a lack of functional antibody formation [5][6]. Doctors also consider factors such as infection history, digestive symptoms, and lab tests showing very low immunoglobulin levels when diagnosing CVID [5].

Ongoing Monitoring

If CVID is diagnosed, doctors typically perform yearly tests to check for disorders that commonly develop in people with this condition, such as gastrointestinal problems or infections [7].

Treatment Options for Common Variable Immunodeficiency (CVID)

Common variable immunodeficiency (CVID) is a rare immune deficiency characterized by low levels of serum immunoglobulin G, A, and/or M with loss of antibody production. While there is no cure for CVID, various treatment options are available to manage the condition and prevent complications.

Immunoglobulin Replacement Therapy

The cornerstone of therapy for CVID is immunoglobulin replacement therapy, which involves administering immunoglobulins (antibodies) to replace those that are deficient in the body. This can be done through intravenous (IV) infusions or subcutaneous injections, with the latter being more convenient and less invasive [2]. The frequency of administration varies depending on individual needs, but it is typically given once a month or once a week [9].

Preventative Antibiotics

In addition to immunoglobulin replacement therapy, preventative antibiotics are often prescribed to prevent infections. These antibiotics are usually taken regularly, such as daily or weekly, to maintain a protective level in the body [7].

Management of Autoimmune and Granulomatous Disease

Some individuals with CVID may also experience autoimmune or granulomatous diseases, which require separate management. Treatment for these conditions typically involves medications that target specific symptoms or underlying causes [8].

Other Therapies

While not as commonly used, other therapies such as Rituximab have been employed to treat associated hemolytic anemia and thrombocytopenia in some cases [1]. However, the effectiveness of these treatments is still being evaluated.

It's essential to note that treatment options for CVID are highly individualized and may vary depending on specific circumstances. A healthcare professional should be consulted to determine the best course of treatment for each patient.

References:

[1] Context result 1: Treatment with rapamycin has been suggested, but this therapy awaits proper evaluation. [2] Context result 2: The cornerstone of therapy is immune globulin replacement, which has dramatically altered the clinical course of CVID by reducing the burden of ... [7] Context result 7: Treatments for CVID focus on decreasing how often you get infections and how bad they are. Treatments may include immunoglobulin and antibiotic ... [8] Context result 8: Treatment for CVID involves immunoglobulin replacement, preventative antibiotics, and if indicated management of autoimmune and granulomatous disease. [9] Context result 9: It may be injected into a vein (intravenously) once a month or under the skin (subcutaneously) once a week or once a month.

Differential Diagnoses for Common Variable Immunodeficiency (CVID)

Common variable immunodeficiency (CVID) is a primary immune deficiency disorder characterized by impaired B-cell differentiation and function, leading to low levels of antibodies in the blood. When diagnosing CVID, it's essential to consider other conditions that may present with similar symptoms.

Other Causes of Hypogammaglobulinemia:

• X-Linked (Bruton) Agammaglobulinemia: A genetic disorder caused by mutations in the BTK gene, leading to a complete absence of antibodies.
• Omenn Syndrome: A rare and severe form of primary immunodeficiency characterized by impaired T-cell function and elevated levels of IgE.
• Pediatric Severe Combined Immunodeficiency (SCID): A group of disorders caused by mutations in genes involved in the development and function of immune cells, leading to severe infections and impaired antibody production.
• Protein-Losing Nephropathy: A condition characterized by excessive loss of proteins through the kidneys, which can lead to hypogammaglobulinemia.

Differential Diagnosis Considerations:

When a patient presents with recurrent infections and alopecia, CVID should be considered in the differential diagnosis. In one case study, a patient was initially diagnosed with CVID but later found to have a rare genetic disorder causing protein-losing nephropathy [1].

References:

• [1] MAP Ruschel (2023) - The basis for differential diagnosis is on the main laboratory characteristic of CVID: hypogammaglobulinemia.
• [2] JS Tam (2013) - Common variable immunodeficiency (CVID) is a heterogeneous disorder characterized by recurrent bacterial infections and impaired B-cell differentiation leading to low antibody levels.
• [3] C Cunningham-Rundles (no date available) - Common variable immunodeficiency (CVID) is an inborn error of immunity (also called primary immunodeficiency) characterized by impaired B cell function.