immunodeficiency 42

Immunodeficiency disorders occur when the body's immune response is reduced or absent, making it difficult for the body to defend against foreign material like bacterial and viral infections [5][6]. This can lead to impaired immune function, causing an increased susceptibility to infections [9].

There are two main types of immunodeficiency disorders: primary and secondary. Primary immunodeficiencies are genetically determined and can be hereditary, while secondary immunodeficiencies are acquired and much more common [7]. Some severe immunodeficiency disorders may require stem cell transplantation as a treatment option [2].

Immunodeficiency can result from a failure or absence of elements of the immune system, including lymphocytes, phagocytes, and the complement system [11]. This can be due to various reasons, such as genetic defects, infections, or other underlying conditions.

In some cases, immunodeficiency may cause an infection, in which case doctors may administer antibiotics or immune globulin (antibodies from the blood of people with a healthy immune system) to help combat the infection [10].

Immunodeficiency Signs and Symptoms

Immunodeficiency disorders can manifest in various ways, making it essential to be aware of the common signs and symptoms. Here are some of the key indicators:

• Frequent Infections: People with immunodeficiency disorders are more prone to infections, such as pneumonia, bronchitis, sinus infections, ear infections, meningitis, or skin infections [1][2].
• Inflammation and Infection of Internal Organs: Immunodeficiency can lead to inflammation and infection of internal organs, including the spleen, liver, or lymph nodes [3][6].
• Recurring Ear and Sinus Infections: Recurring ear and sinus infections are common symptoms of immunodeficiency disorders, especially if they occur more than twice a year in the absence of allergies [4][7].
• Pneumonia and Bronchitis: Pneumonia and bronchitis can be recurring issues for individuals with immunodeficiency disorders [5][8].
• Fatigue and Muscle Aches: Feeling extremely tired, like when you have the flu, could indicate a weakened immune system [9].
• Chronic Diarrhea: Chronic diarrhea can be a symptom of immunodeficiency disorders, especially if it lasts longer than in most people [10].

It's essential to note that these symptoms can vary from person to person and may not always be present. If you're experiencing any of these signs or have concerns about your immune system, consult with your doctor for proper evaluation and guidance.

References: [1] - Signs and symptoms differ depending on the type of primary immunodeficiency disorder. [2] - Immunodeficiency disorders prevent your body from fighting infections and diseases. [3] - Inflammation and infection of internal organs can be a sign of immunodeficiency. [4] - Recurring ear and sinus infections are common symptoms of immunodeficiency disorders. [5] - Pneumonia and bronchitis can be recurring issues for individuals with immunodeficiency disorders. [6] - Swollen spleen, liver, or lymph nodes can indicate inflammation and infection of internal organs. [7] - Four or more new ear infections within one year can be a sign of immunodeficiency. [8] - Repeated bouts of pneumonia, bronchitis, sinus infections, ear infections, meningitis, or skin infections are symptoms of immunodeficiency. [9] - Feeling extremely tired, like when you have the flu, could indicate a weakened immune system. [10] - Chronic diarrhea can be a symptom of immunodeficiency disorders.

Diagnostic Tests for Immunodeficiency

Immunodeficiency disorders can be diagnosed through various tests that measure the levels and function of different components of the immune system. Here are some common diagnostic tests used to diagnose immunodeficiency:

• Blood tests: Blood tests can determine if you have typical levels of infection-fighting proteins (immunoglobulins) in your blood and measure the levels of blood cells and immune system cells [1].
• Complete Blood Count (CBC): A CBC with manual differential is a common initial screening test for immunodeficiency, which measures the number and types of blood cells [3].
• Quantitative Immunoglobulin (Ig) measurements: This test measures the levels of different types of antibodies in the blood [5].
• Antibody titers: This test measures the levels of specific antibodies in the blood to diagnose immunodeficiency [3].
• Skin testing for delayed hypersensitivity: This test is used to assess the immune system's ability to respond to certain substances [3].

Additional Tests

If initial tests suggest a specific disorder of immune cell or complement function, additional tests may be indicated for confirmation. These include:

• Complement levels in the blood: This test measures the levels of complement proteins in the blood [7].
• Total hemolytic complement activity (CH50) assay: This test screens for defects in the classical complement pathway [8].
• AH50 assay: This test screens for defects in the alternative complement pathway [8].

Genetic Testing

Genetic testing is also an emerging laboratory test for diagnosing primary immunodeficiency. This test can identify known mutations causing various types of PI [2].

It's essential to note that a diagnosis of immunodeficiency requires a comprehensive evaluation, including medical history, physical examination, and laboratory tests.

References:

[1] - Blood tests can determine if you have typical levels of infection-fighting proteins (immunoglobulins) in your blood and measure the levels of blood cells and immune system cells [1]. [2] - Another emerging laboratory test for the diagnosis of PI is genetic testing. In the past, genetic tests were available mainly in research settings, but now, several commercial labs offer genetic sequencing for the identification of known mutations causing various types of PI [2]. [3] - Tests are needed to confirm a diagnosis of immunodeficiency (see table Initial and Additional Laboratory Tests for Immunodeficiency). Initial screening tests should include. Complete blood count (CBC) with manual differential. Quantitative immunoglobulin (Ig) measurements. Antibody titers. Skin testing for delayed hypersensitivity [3]. [5] - Blood tests, including a complete blood count (CBC), are done. CBC can detect abnormalities in blood cells that are characteristic of specific immunodeficiency disorders [5]. [7] - Exams and Tests​​ Tests used to diagnose primary immunodeficiencies include complement levels in the blood [7]. [8] - Total hemolytic complement activity (CH50) assay screens for defects in the classical complement pathway [8].

Treatment Options for Immunodeficiency

Immunodeficiency can be treated with various medications, depending on the underlying cause and severity of the condition. Here are some common treatment options:

• Immunoglobulin Replacement Therapy: This is the main therapeutic tool for treating primary immunodeficiency syndrome (PIS). Immunoglobulins (Ig) are proteins that help fight infections. Ig replacement therapy involves administering Ig intravenously or subcutaneously to boost the immune system.
  • [8] cites this as the standard treatment for individuals with antibody deficiencies.
• Antibiotics and Antifungals: These medications are used to treat bacterial and fungal infections, which are common in people with immunodeficiency. Treatment may require a longer course of antibiotics than usual.
  • [4] mentions that infections require rapid and aggressive treatment with antibiotics.
  • [5] notes that antibiotics, anti-fungals, and other treatments are used to manage recurrent infections.
• Corticosteroids: These medications can be used to treat associated health problems such as rheumatoid arthritis, inflammatory bowel disease, and certain skin conditions.
  • [9] mentions corticosteroids as a treatment option for these conditions.

Other Treatment Options

In some cases, other treatments may be considered:

• Rapamycin: This therapy has been suggested for treating immunodeficiency, but its effectiveness awaits proper evaluation.
  • [6] notes that rapamycin has been used to treat associated hemolytic anemia.
• Rituximab: This medication has been used to treat associated conditions such as hemolytic anemia.

Most Popular Drugs

Some of the most popular drugs used to treat immunodeficiency include:

• Hyqvia (Hyaluronidase / Immune Globulin Systemic): This is a combination of hyaluronidase and immune globulins.
  • [3] mentions this drug as one of the treatments for primary immunodeficiency syndrome.

Please note that these treatment options may vary depending on individual circumstances, and it's essential to consult with a healthcare professional for personalized advice.

Differential Diagnosis of Immunodeficiency

Immunodeficiency disorders can be challenging to diagnose, as they often present with non-specific symptoms that can mimic other conditions. A differential diagnosis is a process of ruling out other possible causes of a patient's symptoms before arriving at a definitive diagnosis.

Common Differential Diagnoses for Immunodeficiency

Some common differential diagnoses for immunodeficiency include:

• Bacterial infections: Pneumonia, meningitis, otitis, diarrhea, urinary sepsis, and septicemia are all potential differential diagnoses for immunodeficiency.
• Autoimmune disorders: Conditions such as rheumatoid arthritis, lupus, and Hashimoto's thyroiditis can present with similar symptoms to immunodeficiency.
• Infections: Viral, fungal, and protozoal infections can also be considered in the differential diagnosis of immunodeficiency.

Laboratory Tests for Differential Diagnosis

Several laboratory tests can help rule out differential diagnoses for immunodeficiency. These include:

• Complete blood count (CBC) with manual differential
• Quantitative immunoglobulin (Ig) measurements
• Antibody titers
• Skin testing for delayed hypersensitivity

References:

• [1] Context 2: Tests are needed to confirm a diagnosis of immunodeficiency...
• [3] Context 3: Common variable immunodeficiency (CVID) is a disorder that involves the following...
• [4] Context 4: When primary immunodeficiency is suspected, initial laboratory studies include a complete blood cell count (CBC) with manual differential...
• [6] Context 6: Mar 31, 2024 — Tests used to help diagnose an immunodeficiency disorder may include: Complement levels in the blood...