immunodeficiency 28

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].

There are two types of immunodeficiency disorders:

• Primary Immunodeficiencies: These are genetically determined and can be hereditary. They occur when there is a defect in the genetic code that acts as a blueprint for producing the cells of the body (DNA), causing problems with the immune system's ability to defend against infections [3].
• Secondary Immunodeficiencies: These are acquired and much more common. They occur when the immune system is weakened due to various factors, such as HIV infection or other diseases that compromise the immune system [4].

Immunodeficiency disorders can result from a failure or absence of elements of the immune system, including lymphocytes, phagocytes, and the complement system. This can lead to increased susceptibility to infections and other complications.

Symptoms and Treatment

If immunodeficiency has caused an infection, doctors may give you antibiotics or immune globulin (antibodies from the blood of people with a healthy immune system) [14]. If your immunodeficiency disorder is caused by a bone marrow problem, doctors may do stem cell transplantation.

In summary, immunodeficiency disorders are conditions where the body's immune response is reduced or absent, making it difficult to defend against infections and other diseases. There are two types of immunodeficiencies: primary (genetically determined) and secondary (acquired). Symptoms can include increased susceptibility to infections, and treatment may involve antibiotics, immune globulin, or stem cell transplantation.

References

[1] Context result 4 [2] Context result 4 [3] Context result 7 [4] Context result 8 [5] Context result 5 [14] Context result 14

Based on the context provided, here are the signs and symptoms of immunodeficiency:

Common Signs and Symptoms

• Recurrent infections (e.g., ear infections, sinus infections, pneumonia)
• Chronic diarrhea
• Frequent or severe colds
• Skin infections or abscesses
• Respiratory problems (e.g., bronchitis, pneumonia)

Important Signs to Look Out For

• Two or more new ear infections within 1 year
• Two or more new sinus infections within 1 year (in the absence of allergy)
• One pneumonia per year for more than 1 year
• Chronic diarrhea with weight loss

If you have two or more of these signs, it's essential to speak to your doctor about a possible Primary Immunodeficiency.

Additional Tests May Be Needed

• Blood tests may show a very low white blood cell count or low levels of substances made by your immune system.
• You'll be given an HIV test if you have risk factors for HIV infection.
• Genetic testing may be done if your child has signs of immunodeficiency.

Please note that these symptoms and signs are based on the context provided, which includes information from WebMD and AAAAI.

Diagnostic Tests for Immunodeficiency

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

• Blood tests: These tests can identify specific immune system abnormalities, such as low levels of antibodies or complement proteins [1].
• Genetic tests: Genetic testing looks for variants in genes that are known to cause primary immunodeficiency (PI) and may fast-track your diagnosis [3].
• Flow cytometry: This test measures the number and function of different types of immune cells, such as T cells and B cells [10].
• Immunoglobulin concentrations: Laboratory testing of immunoglobulin concentrations can help establish a diagnosis of Common Variable Immunodeficiency (CVID) [14].

Initial Screening Tests

In a busy clinical environment, the acronym FISH (full blood count, immunogloblins, serum complement C3/C4, HIV test) is a mnemonic for the common first-line investigations to identify the most common immunodeficiencies [15]. These initial tests can help determine if further testing is needed.

Other Diagnostic Tests

Additional diagnostic tests may include:

• Complement levels in the blood: This test measures the level of complement proteins in the blood, which can indicate a deficiency or dysfunction of the immune system [7].
• Cultured amniotic cells or fetal blood sampling: These prenatal tests can diagnose primary immunodeficiency disorders prenatally when a mutation in family members has already been identified [4].

References

[1] Laboratory testing is important for diagnosing an individual with primary immunodeficiency (PI) and determining which of over 450 different conditions they may have. [2] [3] Genetic testing looks for variants in genes that are known to cause primary immunodeficiency (PI) and may fast-track your diagnosis. [13] [4] An increasing number of primary immunodeficiency disorders can be diagnosed prenatally using chorionic villus sampling, cultured amniotic cells, or fetal blood sampling, but these tests are used

Treatment Options for Immunodeficiency

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

• Antibiotics: These are commonly used to treat bacterial infections that occur in people with immunodeficiency. [7]
• Anti-fungals: Antifungal medications may also be prescribed to treat fungal infections. [7]
• Immunoglobulin replacement therapy: This involves taking injections of antibodies (immunoglobulins) to help replace the missing or defective antibodies in the body. [4][5]
• Gene therapy: In some cases, gene therapy can be used to correct the genetic defect causing immunodeficiency. [2]
• Stem cell transplantation: Hematopoietic stem cell transplant (HSCT) is a treatment option for certain types of immunodeficiency. [15]

Medications Used in Immunodeficiency Treatment

Some medications that may be used to treat immunodeficiency include:

• Rapamycin: This medication has been suggested as a potential treatment for some cases of immunodeficiency, although its effectiveness is still being evaluated. [8]
• Rituximab: This medication has been used to treat associated hemolytic anemia in people with immunodeficiency. [8]
• Prednisone: This steroid medication may be prescribed to help reduce inflammation and suppress the immune system. [9]

Important Considerations

It's essential to note that each person's situation is unique, and treatment plans should be tailored to their specific needs. Additionally, any treatment plan should be discussed with a healthcare provider to ensure individual risks and benefits are considered. [4]

Immunodeficiency Differential Diagnoses

Immunodeficiencies can be challenging to diagnose, and a comprehensive differential diagnosis is essential for accurate identification. Here are some conditions that may present with similar symptoms:

• Agammaglobulinemia: A rare genetic disorder characterized by the absence or near-absence of antibodies in the blood.
• Atopic Dermatitis: An inflammatory skin condition often associated with allergies, which can be a symptom of underlying immunodeficiency.
• Cartilage-Hair Hypoplasia: A rare genetic disorder that affects cartilage and hair growth, sometimes accompanied by immunodeficiency.
• Complement Deficiencies: Conditions where the complement system, an essential part of the immune response, is impaired or absent.
• Congenital TORCH (Toxoplasma, Rubella, Cytomegalovirus, Herpes simplex) infections: Infections that can cause immunodeficiency in newborns.

These conditions may present with similar symptoms to immunodeficiencies, such as recurrent infections, delayed wound healing, or impaired immune response. A thorough medical evaluation and diagnostic testing are necessary to determine the underlying cause of these symptoms.

References:

• [3] Nov 30, 2023 — Differential Diagnoses
• [4] Mar 31, 2024 — Tests used to help diagnose an immunodeficiency disorder may include: Complement levels in the blood, or other tests to measure substances...