common variable immunodeficiency 7

Common Variable Immunodeficiency (CVID) 7, also known as CVID7, is a rare subtype of Common Variable Immunodeficiency, a disorder that impairs the immune system.

Characteristics:

• Low levels of specific proteins (immunoglobulins) in the fluid portion of the blood [8]
• Loss of antibodies and impaired antibody production [5]
• Recurrent bacterial infections due to weakened immune system [3]

Causes: CVID7 is caused by a compound heterozygous mutation, which means that an individual inherits two different mutations, one from each parent, that affect the functioning of the immune system [7].

Prevalence and Impact:

• CVID7 is a rare subtype of CVID, affecting a small percentage of individuals with the disorder
• Individuals with CVID7 are highly susceptible to infections and may experience recurrent bacterial infections throughout their lives

References:

• [7] - Evidence suggests that CVID7 is caused by compound heterozygous mutation.
• [8] - Common variable immunodeficiency (CVID) is an inborn immune disorder characterized by low antibody levels, specifically in the fluid portion of the blood.
• [5] - CVID is characterized by low levels of specific proteins (immunoglobulins) in the fluid portion of the blood.

Common Variable Immunodeficiency (CVID) Signs and Symptoms

People with CVID experience a range of symptoms, which can vary in severity and frequency. Here are some of the most common signs and symptoms:

• Frequent Infections: The most common sign of CVID is frequent infections, particularly:
  • Sinusitis
  • Pneumonia
  • Bronchitis
  • Ear infections
  • Shingles [1]
• Gastrointestinal Problems: Some people with CVID may experience gastrointestinal problems, including:
  • Chronic diarrhea
  • Weight loss
  • Nausea
  • Vomiting
  • Abdominal pain [5]
• Respiratory System Infections: CVID can cause recurrent sinopulmonary infections that affect the respiratory system, leading to symptoms such as:
  • Sinus congestion and pressure
  • Cough
  • Shortness of breath [6]
• Low Immunoglobulin Levels: CVID is characterized by low levels of specific proteins (immunoglobulins) in the fluid portion of the blood, which can lead to a loss of antibodies and impaired immune function [7]

These symptoms can be severe and may require medical attention. If you suspect that you or someone else has CVID, it's essential to consult with a healthcare professional for proper diagnosis and treatment.

References: [1] - Context result 2 [5] - Context result 5 [6] - Context result 6 [7] - Context result 7

Diagnostic Tests for Common Variable Immunodeficiency (CVID)

Common variable immunodeficiency (CVID) is a type of primary immunodeficiency characterized by low levels of specific proteins (immunoglobulins) in the fluid portion of the blood. This results in a loss of antibodies and an increased susceptibility to infections.

Key Diagnostic Tests:

• Serum Immunoglobulin Levels: Measuring serum levels of immunoglobulins, such as IgG, IgA, and IgM, is crucial for diagnosing CVID. Low levels of these proteins are indicative of the condition [7].
• Blood Test Screenings: Routine blood test screenings, including a complete blood count (CBC), c-reactive protein test, liver function tests, and kidney function tests, can help identify abnormalities associated with CVID [4].

Additional Tests:

• B-Cell Subset Analysis by Flow Cytometry: This test helps determine the presence of functional B-cells, which is essential for antibody production [2].
• Genetic Testing: Genetic testing may be performed to rule out other conditions that can cause similar symptoms.
• Fecal Calprotectin and α1-Antitrypsin Tests: These tests are used to diagnose gastrointestinal complications associated with CVID [6].

Confirming the Diagnosis:

The diagnosis of CVID is usually confirmed by abnormal blood test results, medical history, and a combination of these diagnostic tests. Regular follow-up tests may be necessary to monitor for disorders that commonly develop in people with this condition [8][9].

Treatment for Common Variable Immunodeficiency (CVID)

The treatment for CVID involves several approaches to manage the condition and prevent complications.

• Immunoglobulin Replacement Therapy: This is the mainstay of treatment for CVID, which involves replacing the missing antibodies with intravenous or subcutaneous immunoglobulins. The goal is to keep the individual's antibody levels within a normal range.
• Preventative Antibiotics: Regular use of antibiotics can help prevent infections and reduce the severity of symptoms.
• Management of Autoimmune and Granulomatous Disease: In some cases, treatment may also involve managing autoimmune and granulomatous diseases that can occur in people with CVID.

It's essential to work closely with a healthcare provider to develop an individualized treatment plan. Regular monitoring and adjustments to the treatment regimen may be necessary to ensure optimal management of the condition.

References:

• [7] Treatment for CVID involves immunoglobulin replacement, preventative antibiotics, and if indicated management of autoimmune and granulomatous disease.
• [6] Ig replacement therapy combined with antibiotic therapy has greatly improved the outlook of people with CVID.

Common Variable Immunodeficiency (CVID) Differential Diagnosis

Common Variable Immunodeficiency (CVID) is a heterogeneous group of primary immune deficiency diseases characterized by reduced serum levels of immunoglobulins. When diagnosing CVID, it's essential to consider other potential causes of hypogammaglobulinemia, which can lead to similar symptoms.

Other Causes of Hypogammaglobulinemia:

• Loss of gammaglobulins via the intestine or urine: This can occur due to various conditions such as gastrointestinal disorders (e.g., celiac disease), kidney diseases, or other systemic illnesses.
• Other primary immunodeficiencies: Such as X-linked agammaglobulinemia, Omenn syndrome, and severe combined immunodeficiency, which can present with similar symptoms.

Key Points to Consider:

• Recurrent infections: CVID patients often experience recurrent bacterial infections, but it's crucial to rule out other conditions that may cause similar symptoms.
• Low immunoglobulin levels: Measuring serum immunoglobulins is essential for diagnosing CVID. However, low levels can also be caused by other factors such as gastrointestinal disorders or kidney diseases.

References:

• [7] Common variable immunodeficiency (CVID) is considered a heterogeneous group of primary immune deficiency diseases characterised by reduced serum levels of ...
• [10] Differential diagnosis include other causes of hypogammaglobulinemia including loss of gammaglobulins via the intestine or urine ...