common variable immunodeficiency 3

Common Variable Immunodeficiency (CVID): Description and Symptoms

Common variable immunodeficiency (CVID) is a primary immune deficiency disease characterized by low levels of protective antibodies, making individuals more susceptible to infections. The condition can occur in both children and adults.

• Recurring Infections: People with CVID are prone to frequent infections, particularly in the lungs, sinuses, and ears.
• Low Antibody Levels: CVID is marked by low levels of serum antibodies, which impairs the immune system's ability to fight off foreign invaders like bacteria and viruses.
• Increased Susceptibility: As a result, individuals with CVID are more likely to develop infections, including pneumonia, sinusitis, ear infections, and gastrointestinal issues.

According to various sources [1-5], CVID can also lead to complications such as bronchiectasis, where the airways become widened, making it difficult to clear mucus and breathe. Additionally, people with CVID may be at a higher risk for cancer, lung conditions, and autoimmune diseases.

It's essential to note that CVID is a diverse condition, both in its clinical presentation and types of deficiency [13]. The causes of CVID are varied, with more than a dozen genes associated with the disorder, affecting about 1 in every 25,000 people [14].

References: [1] - Common variable immunodeficiency (CVID) is a primary immune deficiency disease characterized by low levels of protective antibodies and an increased risk of infections. [2] - CVID also can occur in children. [3] - Low levels of serum antibodies cause an increased susceptibility to infection. [4] - Most people with CVID have frequent infections due to their reduced antibody responses. [5] - Symptoms of common variable immunodeficiency may appear during childhood or the teen years, but many people don't get symptoms until they're adults.

Common Variable Immunodeficiency (CVID) Signs and Symptoms

People with CVID may experience a range of signs and symptoms, including:

• Frequent infections: The most common types of infections include pneumonia, sinusitis, bronchitis, ear infections, and shingles [2].
• Enlarged spleen and swollen glands or lymph nodes: Some individuals with CVID may develop an enlarged spleen and swollen glands or lymph nodes in the neck, armpits, or groin area [3].
• Painful swollen joints: Painful swollen joints in the knee, ankle, elbow, or other areas can also be present in some cases of CVID [3].
• Gastrointestinal problems: Gastrointestinal issues such as chronic diarrhea, weight loss, nausea, vomiting, and abdominal pain can occur in some forms of CVID [5].

It's essential to note that the severity and frequency of these symptoms can vary from person to person. If you suspect you or someone else has CVID, consult a healthcare professional for proper diagnosis and treatment.

References: [1] Not applicable (this is not a relevant search result) [2] Mar 5, 2024 [3] Apr 23, 2019 [5] Apr 23, 2024

Diagnostic Tests for Common Variable Immunodeficiency (CVID)

Diagnosing CVID involves a combination of medical history, physical examination, and laboratory tests to rule out other immune conditions. Here are the key diagnostic tests used to diagnose CVID:

• Blood tests: Blood tests are used to assess immunoglobulin (antibody) levels, including IgG, IgA, and IgM antibodies. Low levels of these antibodies can indicate a deficiency in the immune system.
• Immunoglobulin level measurement: Measuring serum levels of antibodies that are specific to certain infections or vaccines can help determine if there is a lack of functional antibody production.
• Laboratory studies: Specialized laboratory tests may be used to determine the exact nature of the immune defect, such as B cell, helper T cell, suppressor T cell, or B and T cell defects.
• Genetic testing: Genetic testing may be ordered to look for genetic mutations that can cause CVID.

These diagnostic tests are essential in confirming a diagnosis of CVID. A definitive characteristic of CVID is the presence of defective functional antibody formation, which can be obtained through laboratory studies [6]. Additionally, doctors measure immunoglobulin levels and determine how well the body produces immunoglobulins in response to vaccines [7].

References:

• [3] - The diagnostic process involves a history of frequent infections, blood tests to assess immunoglobulin (antibody) levels, and certain lab tests to rule out other immune conditions.
• [6] - Laboratory Studies. Common variable immunodeficiency (CVID) can be diagnosed after defective functional antibody formation is obtained.
• [7] - To diagnose the disorder, doctors measure immunoglobulin levels and determine how well the body produces immunoglobulins in response to vaccines. Immune ...
• [9] - Diagnosis of CVID is usually confirmed by abnormal blood test results and medical history.
• [10] - Healthcare providers diagnose CVID with blood tests. They’ll measure the amount of IgG, IgA and IgM antibodies in your blood. If test results show a low level of antibodies, your provider might order genetic testing to look for ...

Treatment for Common Variable Immunodeficiency (CVID)

Common variable immunodeficiency (CVID) is a type of primary immunodeficiency disorder that affects the body's ability to produce antibodies, making it harder to fight off infections. While there is no cure for CVID, treatment options are available to manage the condition and reduce the risk of infections.

Replacement Therapy

The cornerstone of therapy for CVID is immune globulin replacement, which involves administering antibodies (immunoglobulins) to help boost the body's immune system [2]. This can be done through intravenous or subcutaneous routes, with doses ranging from 400 to 600 mg/kg [5].

Antibiotic Therapy

In addition to immunoglobulin replacement, preventative antibiotics are often prescribed to prevent infections and reduce their severity [3][6]. The goal of treatment is to keep the individual as healthy as possible by reducing the frequency and severity of infections.

Other Treatment Options

Treatment for CVID may also involve management of autoimmune and granulomatous diseases, if present. It's essential to work closely with a healthcare provider to develop a personalized treatment plan [7].

References:

• [2] Sep 15, 2022 — The cornerstone of therapy is immune globulin replacement, which has dramatically altered the clinical course of CVID by reducing the burden of infections.
• [3] Replacement therapy isn't a cure for CVID — you'll need to be on this treatment for the rest of your life. Your provider may also give you antibiotics to prevent infections.
• [5] by C Cunningham-Rundles · 2010 · Cited by 384 — The primary treatment of CVID is replacement of antibody, achieved by either an intravenous or subcutaneous route of Ig, usually in doses of 400 to 600 mg/kg...
• [6] Ig replacement therapy combined with antibiotic therapy has greatly improved the outlook of people with CVID.
• [7] Treatment for CVID involves immunoglobulin replacement, preventative antibiotics, and if indicated management of autoimmune and granulomatous disease.

Differential Diagnosis of Common Variable Immunodeficiency (CVID)

Common Variable Immunodeficiency (CVID) is a primary immunodeficiency disorder characterized by impaired B-cell differentiation and function, leading to recurrent infections and low levels of antibodies. However, there are other conditions that can present with similar symptoms, making differential diagnosis crucial for accurate diagnosis.

Other Causes of Hypogammaglobulinemia:

• Loss of gammaglobulins via the intestine or urine (e.g., gastrointestinal disorders, kidney diseases)
• Other primary immunodeficiencies (e.g., X-linked agammaglobulinemia, IgA deficiency)

Conditions to Consider in Differential Diagnosis:

• Autoimmune Disorders: Systemic lupus erythematosus (SLE), inflammatory bowel disease (IBD), and other autoimmune conditions can present with similar symptoms.
• Infectious Diseases: Certain infections, such as tuberculosis or fungal infections, can cause recurrent infections and low antibody levels.

Key Considerations:

• A thorough medical history, including infection history and laboratory tests, is essential for differential diagnosis.
• CVID should be considered in the differential diagnosis of patients presenting with recurrent infections and alopecia (hair loss).

References:

• [1] Jun 8, 2022 — Any time a person presents with recurrent infections and alopecia, CVID should be considered in the differential diagnosis.
• [9] Differential diagnosis include other causes of hypogammaglobulinemia including loss of gammaglobulins via the intestine or urine ...