immunodeficiency 36

Immunodeficiency: A State of Compromised Immune System

Immunodeficiency, also known as immunocompromisation, is a state in which the immune system's ability to fight infectious diseases and cancer is compromised [9]. This condition impairs the body's ability to resist infection, making it more susceptible to various illnesses [12].

Types of Immunodeficiency Disorders

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 [8]. Some primary immunodeficiencies are inherited, being caused by a genetic defect, and may occur alone or as part of a syndrome [13].

Causes and Complications

Immunodeficiency disorders can result from various factors, including congenital or acquired conditions. These disorders can lead to increased susceptibility to infections, and in severe cases, may require treatment such as stem cell transplantation [11]. Additionally, immunodeficiency disorders are associated with or predispose patients to various complications, including cancer and autoimmune diseases [14].

References

• Immunodeficiency is a state in which the immune system's ability to fight infectious diseases and cancer is compromised [9].
• Primary immunodeficiencies are genetically determined and can be hereditary [8].
• Some primary immunodeficiencies are inherited, being caused by a genetic defect [13].
• Immunodeficiency disorders can lead to increased susceptibility to infections [12].
• Stem cell transplantation may be required in severe cases of immunodeficiency [11].

Immunodeficiency Signs and Symptoms

Immunodeficiency disorders can manifest in various ways, depending on the type and severity of the condition. Here are some common signs and symptoms:

• Frequent Infections: People with immunodeficiency may experience recurring infections, such as:
  • Ear infections (otitis media) [1][2]
  • Sinus infections (sinusitis) [3][4]
  • Pneumonia [5][6]
  • Bronchitis [7][8]
  • Meningitis [9][10]
• Inflammation and Infection of Internal Organs: Immunodeficiency can lead to inflammation and infection of internal organs, such as the spleen, liver, or lymph nodes [11][12].
• Fatigue and Weakness: Feeling extremely tired, like when you have the flu, could be a sign of immunodeficiency [13].
• Recurring Skin Infections: People with immunodeficiency may experience recurring skin infections, such as thrush (candidiasis) [14].

It's essential to note that these symptoms can vary in severity and frequency from person to person. If you're experiencing any of these symptoms, it's crucial to consult a healthcare professional for proper diagnosis and treatment.

References: [1] Context 3 [2] Context 5 [3] Context 4 [4] Context 8 [5] Context 9 [6] Context 7 [7] Context 11 [8] Context 12 [9] Context 13 [10] Context 14 [11] Context 1 [12] Context 2 [13] Context 13 [14] Context 4

Diagnostic Tests for Immunodeficiency

Immunodeficiency disorders can be diagnosed through various tests that measure the levels and function of immune cells, proteins, and other components of the immune system.

• Blood Tests: Blood tests are a crucial part of diagnosing immunodeficiency disorders. They can determine typical levels of infection-fighting proteins (immunoglobulins) in your blood and measure the levels of blood cells and immune system cells [1]. A complete blood count (CBC) with manual differential is also essential, as it can detect abnormalities in blood cells that are characteristic of specific immunodeficiency disorders [12].
• Genetic Testing: Genetic testing is another emerging laboratory test for diagnosing primary immunodeficiency (PI). This test involves genetic sequencing to identify known mutations causing various types of PI [2]. Several commercial labs offer genetic sequencing for the identification of known mutations.
• Complement Levels: Complement levels in the blood can also be measured, which can help diagnose defects in the classical complement pathway [6].
• Immunoglobulins Test: An immunoglobulins test measures the levels of certain antibodies in your blood. Abnormal levels can indicate a serious health problem [9].

Additional Tests

In addition to these tests, other diagnostic tools may be used to confirm a diagnosis of immunodeficiency. These include:

• Skin Testing for Delayed Hypersensitivity: Skin testing for delayed hypersensitivity can help diagnose specific disorders of immune cell or complement function [3].
• Antibody Titers: Antibody titers can also be measured to determine the levels of certain antibodies in your blood.
• Quantitative Immunoglobulin (Ig) Measurements: Quantitative immunoglobulin measurements can help determine typical levels of infection-fighting proteins in your blood.

Confirming a Diagnosis

To confirm a diagnosis, your healthcare provider may order additional tests that include:

• Blood Tests to Identify Specific Immune System Abnormalities: Blood tests can be used to identify specific immune system abnormalities [4].
• Newborn Screening: Newborn screening can also be used to diagnose immunodeficiency disorders.

References

[1] Context 1 [2] Context 2 [3] Context 3 [4] Context 4 [6] Context 6 [9] Context 9 [12] Context 12

Treatment Options for Immunodeficiency

Immunodeficiency can be treated with various medications and therapies, depending on the underlying cause and severity of the condition.

• Gene Therapy: This type of treatment involves taking stem cells from the person with primary immunodeficiency, correcting the gene in the cells, and then returning the corrected stem cells back to the person via an intravenous infusion. With gene therapy, there is no need to find a suitable donor, as the person's own cells are used [2].
• Immunoglobulin Replacement Therapy: This treatment involves replacing the missing or defective antibodies with healthy ones, which can help prevent infections and improve overall health [5]. Immunoglobulin derived from human plasma was first introduced as a treatment option in 1952 when it was injected intramuscularly (IM) to treat people with recurrent infections who had antibody deficiencies [4].
• Drugs used to treat Primary Immunodeficiency Syndrome: Various medications are available to treat primary immunodeficiency, including antibiotics, anti-fungals, and immunosuppressants. For example, rituximab has been used to treat associated hemolytic anemia and thrombocytopenia [8].
• General Immune Suppressants: Steroids such as prednisone, methylprednisolone, and dexamethasone can be used to suppress the immune system and prevent excessive inflammation. Other medications like colchicine, hydroxychloroquine (Plaquenil), and sulfasalazine may also be prescribed [9].

It's essential to note that individual risks and benefits should be discussed with a healthcare provider before starting any treatment.

References:

[2] Drugs.com Mobile App. [4] History of Ig replacement therapy [5] Immunoglobulin replacement therapy remains the main therapeutic tool, as most patients with IEI have alterations in antibody quantity or quality. Precision ... [8] Rituximab has been used to treat associated hemolytic anemia and thrombocytopenia. [9] General Immune Suppressants · Steroids Examples: Prednisone, methylprednisolone, dexamethasone · Colchicine · Hydroxychloroquine (Plaquenil) · Sulfasalazine

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 the 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 lupus, rheumatoid arthritis, and Hashimoto's thyroiditis can present with similar symptoms to immunodeficiency.
• Cancer: Certain types of cancer, such as lymphoma or leukemia, can also cause immunodeficiency-like symptoms.

Tests Used in Differential Diagnosis

To rule out these differential diagnoses, various tests may be performed, including:

• Complete blood count (CBC): A CBC with manual differential can help identify abnormalities in white blood cell counts.
• Quantitative immunoglobulin measurements: Measuring levels of IgG, IgM, and IgA can help diagnose primary immunodeficiency disorders.
• Antibody titers: Antibody titers can be used to diagnose autoimmune disorders or infections.

References

• [1] According to search result 2, differential diagnosis for immunodeficiency includes bacterial infections such as pneumonia, meningitis, otitis, diarrhea, urinary sepsis, and septicemia.
• [2] Search result 3 mentions that common variable immunodeficiency (CVID) is a disorder characterized by low levels of most or all of the immunoglobulin (Ig) classes, lack of B lymphocytes or plasma cells capable of producing antibodies, and frequent bacterial infections.
• [3] Search result 4 lists various differential diagnoses for immunodeficiency, including autoimmune disorders and cancer.

Note: The above information is based on the search results provided in the context.