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common variable immunodeficiency 12
ICD-10 Codes
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Description
Common Variable Immunodeficiency (CVID) Description
Common Variable Immunodeficiency (CVID) is a primary immune deficiency disease characterized by low levels of protective antibodies, making individuals highly susceptible to infections.
- Low antibody levels: CVID is marked by low levels of serum antibodies, which are essential for fighting off infections. [1]
- Increased susceptibility to infection: Without sufficient antibodies, people with CVID are more prone to frequent and severe infections, particularly in the respiratory tract. [2], [6]
- Genetic disorder: CVID is a group of genetic diseases where the immune cells fail to produce antibodies, leading to impaired immune function. [3]
In essence, CVID is an antibody deficiency that leaves the immune system unable to defend against bacteria and viruses, resulting in recurrent infections. [9]
Additional Characteristics
- Common Variable Immunodeficiency (CVID) is a primary immune deficiency disease characterized by low levels of protective antibodies, making individuals highly susceptible to infections.
- * Low antibody levels: CVID is marked by low levels of serum antibodies, which are essential for fighting off infections. [1]
- * Increased susceptibility to infection: Without sufficient antibodies, people with CVID are more prone to frequent and severe infections, particularly in the respiratory tract. [2], [6]
- * Genetic disorder: CVID is a group of genetic diseases where the immune cells fail to produce antibodies, leading to impaired immune function. [3]
- In essence, CVID is an antibody deficiency that leaves the immune system unable to defend against bacteria and viruses, resulting in recurrent infections. [9]
Signs and Symptoms
Common Signs and Symptoms of Common Variable Immunodeficiency (CVID)
Common variable immunodeficiency (CVID) is a type of primary immunodeficiency characterized by low levels of serum antibodies, leading to an increased susceptibility to infection. The most common signs and symptoms of CVID include:
- Frequent Infections: Patients with CVID experience repeated infections, particularly affecting the respiratory system, ears, and sinuses. These infections can manifest as:
- Pneumonia
- Sinusitis
- Bronchitis
- Ear infections
- Shingles [1]
- Gastrointestinal Problems: Some patients may also experience gastrointestinal issues, such as:
- Chronic diarrhea
- Weight loss
- Nausea
- Vomiting
- Abdominal pain [4]
- Respiratory Symptoms: CVID can cause respiratory problems, including:
- Shortness of breath
- Cough
- Sinus congestion and pressure [6]
It's essential to note that the symptoms of CVID can vary in severity and may not always be present. A diagnosis is typically made based on a combination of clinical evaluation, laboratory tests, and family history.
References: [1] - The most common types of infections include pneumonia, sinusitis, bronchitis, ear infections and shingles. [4] - Gastrointestinal problems including chronic diarrhea, weight loss, nausea, vomiting and abdominal pain can also be present. [6] - Patients with CVID have recurrent sinopulmonary infections that cause sinus congestion and pressure, cough, shortness of breath, ...
Additional Symptoms
- Shortness of breath
- Gastrointestinal Problems
- Respiratory Symptoms
- Chronic diarrhea
- Ear infections
- Frequent Infections
- Shingles
- Sinus congestion and pressure
- sinusitis
- weight loss
- nausea
- obsolete pneumonia
- bronchitis
- abdominal pain
- vomiting
- cough
Diagnostic Tests
Diagnostic Tests for Common Variable Immunodeficiency (CVID)
Common variable immunodeficiency (CVID) is a diagnosis of exclusion, which means that it requires specific testing to rule out other immune conditions. The diagnostic process involves a combination of medical history, blood tests, and certain lab tests.
- Blood Tests: Blood tests are used to assess immunoglobulin (antibody) levels in the body. These tests can help determine if there is a lack of functional antibody, which is a characteristic of CVID [5].
- Immunoglobulin Levels: Doctors measure serum levels of antibodies that are produced by the immune system. This helps determine how well the body produces immunoglobulins in response to vaccines [7].
- Lab Tests: Specialized laboratory tests may also help determine the exact nature of the immune defect, such as B cell, helper T cell, suppressor T cell, or B and T cell defects [8].
- Medical History: A thorough medical history is essential to diagnose CVID. This includes a history of frequent infections, which can be a symptom of the condition [1].
Confirming Diagnosis
A diagnosis of CVID is usually confirmed by abnormal blood test results and medical history [9]. It's essential to note that CVID is a rare condition, and it may take some time to confirm the diagnosis.
References:
- [1] 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.
- [5] Another part of the diagnosis of CVID is to determine if there is a lack of functional antibody. This is done by measuring serum levels of antibodies that are ...
- [7] To diagnose the disorder, doctors measure immunoglobulin levels and determine how well the body produces immunoglobulins in response to vaccines.
- [8] Specialized laboratory tests may also help to determine the exact nature of the immune defect (e.g., B cell, helper T cell, suppressor T cell, or B and T cell ...
- [9] Diagnosis of CVID is usually confirmed by abnormal blood test results and medical history.
Additional Diagnostic Tests
- Blood Tests
- Medical History
- Lab Tests
- Immunoglobulin Levels
Treatment
Treatment Options 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, various treatment options are available to manage the condition and prevent complications.
1. Immunoglobulin Replacement Therapy
The cornerstone of therapy for CVID is immunoglobulin replacement therapy, which involves administering antibodies (Ig) to help boost the immune system's ability to fight off infections [4]. This can be done through intravenous or subcutaneous routes, with doses ranging from 400 to 600 mg/kg [5].
2. Antibiotic Therapy
In addition to immunoglobulin replacement therapy, antibiotic therapy is often prescribed to prevent and treat bacterial infections that can occur in people with CVID [3]. This is especially important for individuals who experience frequent or severe infections.
3. Long-term Treatment Commitment
It's essential to note that treatment for CVID involves a long-term commitment to immunoglobulin replacement therapy, which may need to be continued for the rest of one's life [3].
4. Combination Therapy
Combining immunoglobulin and antibiotic therapies has been shown to greatly improve the outlook for people with CVID by reducing the frequency and severity of infections [6].
5. Personalized Treatment Plans
Treatment plans for CVID are often tailored to individual needs, taking into account factors such as infection history, overall health, and lifestyle [7]. It's essential to work closely with a healthcare provider to develop a personalized treatment plan.
In summary, while there is no cure for CVID, various treatment options are available to manage the condition and prevent complications. These include immunoglobulin replacement therapy, antibiotic therapy, and combination therapy, all of which require a long-term commitment to effective management.
Recommended Medications
- Antibiotic Therapy
- Combination Therapy
- Immunoglobulin Replacement Therapy
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Differential Diagnosis of Common Variable Immunodeficiency
Common variable immunodeficiency (CVID) can be challenging to diagnose, and a thorough differential diagnosis is essential to rule out other conditions that may present with similar symptoms. The following are some of the key points to consider when differentiating CVID from other conditions:
- Monoclonal protein levels: Elevated monoclonal protein levels can indicate conditions such as multiple myeloma or Waldenström's macroglobulinemia, which should be ruled out in patients with suspected CVID [11].
- Hypogammaglobulinemia: While low immunoglobulin (Ig) levels are a hallmark of CVID, other conditions such as lymphoma, chronic lymphocytic leukemia, or autoimmune disorders can also cause hypogammaglobulinemia [10].
- Recurrent infections: Patients with CVID often experience recurrent bacterial and viral infections, but this symptom can also be present in other conditions such as HIV/AIDS or severe combined immunodeficiency (SCID) [12].
To accurately diagnose CVID, healthcare providers must consider these differential diagnoses and perform a comprehensive evaluation that includes:
- A thorough medical history
- Physical examination
- Laboratory tests to rule out other conditions
- Immunological studies to confirm the presence of CVID
By carefully considering these factors
Additional Differential Diagnoses
- Autoimmune Disorders
- AIDS
- lymphoma
- severe combined immunodeficiency
- chronic lymphocytic leukemia
- macroglobulinemia
- multiple myeloma
Additional Information
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- A common variable immunodeficiency that is characterized by recurrent infections and associated with hypogammaglobulinemia and that has_material_basis_in heterozygous mutation in the NFKB1 gene on chromosome 4q24.
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It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.