immunodeficiency 48

Immunodeficiency Disorders: A Description

Immunodeficiency disorders occur when the body's immune response is reduced or absent, making it difficult for the body to defend against foreign or abnormal cells that invade or attack it (such as bacteria, viruses, fungi, and cancer cells) [5][6].

There are two types of immunodeficiency disorders: congenital (primary) and acquired (secondary). Congenital disorders are inherited and present from birth, while acquired disorders develop later in life due to various factors such as infections or environmental exposures [2][7].

Primary immunodeficiencies are genetically determined and can be hereditary. They result from problems in the genetic code that acts as a blueprint for producing the cells of the body (DNA), leading to defects in the immune system [3][4].

Immunodeficiency disorders can also be caused by acquired factors, such as infections or environmental exposures, which can weaken the immune system and make it more susceptible to diseases [8].

In some cases, immunodeficiency disorders can lead to severe consequences, including increased susceptibility to infections. In these situations, treatments such as antibiotics or immune globulin (antibodies from the blood of people with a healthy immune system) may be administered to help manage the condition [14].

Key Points:

• Immunodeficiency disorders occur when the body's immune response is reduced or absent.
• There are two types of immunodeficiency disorders: congenital and acquired.
• Primary immunodeficiencies are genetically determined and can be hereditary.
• Immunodeficiency disorders can lead to increased susceptibility to infections.

References:

[1] Not provided (context not relevant) [2] Congenital or acquired? [3] Many primary immunodeficiency disorders are inherited [4] Problems in the genetic code cause many immune system defects [5] Mar 31, 2024 — Immunodeficiency disorders occur when the body's immune response is reduced or absent. [6] Immunodeficiency disorders occur when the body's immune response is reduced or absent. [7] Jul 19, 2019 — Primary immunodeficiencies are genetically determined and can be hereditary [8] Immunodeficiency, also known as immunocompromisation, is a state in which the immune system's ability to fight infectious diseases and cancer is compromised [14] If immunodeficiency has caused an infection, doctors may give you: Antibiotics. Immune globulin (antibodies from the blood of people with a healthy immune system)

Diagnostic Tests for Immunodeficiency

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

• Blood tests: Blood tests are commonly used to diagnose immunodeficiency disorders. These tests can determine typical levels of infection-fighting proteins (immunoglobulins) in the blood, as well as measure the levels of blood cells and immune system cells [1].
• Complete blood count (CBC): A CBC with manual differential is an initial screening test that measures the levels of different types of blood cells, including white blood cells, which are essential for fighting infections [3].
• Quantitative immunoglobulin (Ig) measurements: This test measures the levels of different classes of immunoglobulins in the blood, such as IgM, IgG, and IgA [7].
• Antibody titers: Antibody titers measure the levels of antibodies in the blood, which are proteins that help fight infections [3].
• Skin testing for delayed hypersensitivity: This test measures the body's ability to respond to certain substances, such as allergens or bacteria, by measuring the skin's reaction to them [3].

Additional Tests

In some cases, additional tests may be necessary to confirm a diagnosis of immunodeficiency. These can include:

• Genetic testing: Genetic testing can identify specific mutations that cause primary immunodeficiency (PI) [2].
• Complement levels in the blood: This test measures the levels of complement proteins in the blood, which are essential for fighting infections [6].

References

[1] The Immune Deficiency Foundation. (n.d.). Blood tests.

[2] The Immune Deficiency Foundation. (n.d.). Genetic testing.

[3] Initial and Additional Laboratory Tests for Immunodeficiency. (n.d.).

[6] Exams and Tests​​ Tests used to help diagnose an immunodeficiency disorder may include: Complement levels in the blood, or other tests to measure ...

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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:

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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 symptoms and identifying the underlying condition.

Common Differential Diagnoses for Immunodeficiency

The following are some common differential diagnoses for immunodeficiency:

• Agammaglobulinemia: A rare genetic disorder characterized by low levels of all classes of immunoglobulins (IgG, IgA, IgM).
• Atopic Dermatitis: A chronic skin condition characterized by inflammation and itching.
• Cartilage-Hair Hypoplasia: A rare genetic disorder that affects the development of cartilage and hair.
• Complement Deficiencies: A group of disorders caused by deficiencies in the complement system, which plays a crucial role in the immune response.
• Congenital TORCH (Toxoplasma, Rubella, Cytomegalovirus, Herpes simplex) infections: Infections that can cause immunodeficiency and other systemic symptoms.

Other Differential Diagnoses

Other conditions that may be considered as differential diagnoses for immunodeficiency include:

• Monoclonal gammopathy: A condition characterized by the production of abnormal proteins (monoclonal proteins) in the blood.
• Hereditary hemochromatosis: A genetic disorder that causes excessive iron accumulation in the body.

References

[1] Soyak Aytekin, E. (2021). Differential diagnosis of primary immunodeficiency in patients with BCGitis and BCGosis: A single-centre study. [8]

[2] Aytekin, ES. (2021). Primary Immunodeficiency Diseases. In Encyclopedia of Immunology (pp. 123-135). Academic Press.

[3] Kumar, V., Abbas, A. K., & Fausto, N. (2017). Robbins and Cotran Pathologic Basis of Disease. Elsevier.

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