immunodeficiency 44

Immunodeficiency-44 (IMD44): An Overview

Immunodeficiency-44, also known as IMD44, is an autosomal recessive primary immunodeficiency characterized by increased susceptibility to viral infections and adverse multisystemic reactions to vaccination in some patients.

• Increased Susceptibility to Viral Infections: Individuals with IMD44 appear to have defects in mitochondrial fission and fusion, making them more susceptible to viral infections [1][2].
• Adverse Multisystemic Reactions to Vaccination: Some patients with IMD44 may experience adverse reactions to vaccinations, including encephalopathy and infection-associated neurologic decompensation [3][4].

Key Features

• Autosomal recessive inheritance pattern
• Increased susceptibility to viral infections
• Adverse multisystemic reactions to vaccination in some patients
• Defects in mitochondrial fission and fusion

References

[1] Shahni et al. (2015) - Summary by Shahni et al., 2015, describing defects in mitochondrial fission and fusion in individuals with IMD44. [2] OMIM - Description of Immunodeficiency-44 as an autosomal recessive primary immunodeficiency characterized by increased susceptibility to viral infections. [3] Shahni et al. (2015) - Abstract by Shahni et al., 2015, describing adverse reactions to vaccinations in some patients with IMD44. [4] OMIM - Description of Immunodeficiency-44 as an autosomal recessive primary immunodeficiency characterized by increased susceptibility to viral infections and adverse multisystemic reactions to vaccination.

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 12 [8] Context 14 [9] Context 13 [10] Context 11 [11] Context 6 [12] Context 15 [13] Context 4 [14] Context 3

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 used to 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 immunodeficiencies (PI). This test can identify known mutations causing various types of PI [2]. However, genetic tests were previously available mainly in research settings but are now offered by several commercial labs.
• Complement Levels: Complement levels in the blood or other tests to measure complement function may also be used to help diagnose immunodeficiency disorders [6].
• Immunoglobulins Test: An immunoglobulins test measures the levels of certain antibodies in your blood. Abnormal levels can indicate a serious health problem, such as an immunodeficiency disorder [9].

Additional Tests

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

• Skin Testing: Skin testing for delayed hypersensitivity may also be performed to help diagnose immunodeficiency disorders [3].
• Newborn Screening: Newborn screening is another way to test for and diagnose immunodeficiency disorders, especially in newborns [5].

Confirming a Diagnosis

To confirm a diagnosis of immunodeficiency, your healthcare provider may order additional tests that include blood tests to identify specific immune system abnormalities [4]. These tests can help determine the type of immunodeficiency disorder you have.

References:

[1] Context 1 [2] Context 2 [3] Context 3 [4] Context 4 [5] Context 5 [6] Context 6 [7] Context 7 [8] Context 8 [9] Context 9 [10] Context 10 [11] Context 11 [12] Context 12

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:

• Drugs used to treat Primary Immunodeficiency Syndrome: Medications such as corticosteroids, immunosuppressants, and antibiotics may be prescribed to manage symptoms and prevent infections.
• Immunoglobulin replacement therapy: This blood-based treatment provides people with the antibodies (immunoglobulins) they need to fight infection. In 2020-2021, *7275 people with immunodeficiency were prescribed immunoglobulin therapy [4][5].
• 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 [3].
• Rituximab: This medication has been used to treat associated hemolytic conditions in some cases.
• Immunosuppressants: These drugs prevent your immune system from attacking healthy cells and tissues by mistake. Examples include corticosteroids, which can be used to treat health problems such as rheumatoid arthritis, inflammatory bowel disease, and certain skin conditions [8].
• Antiviral medications: Other antiviral drugs, like oseltamivir and acyclovir, or a drug called interferon are sometimes used for treatment of the viral infections caused by immunodeficiency disorders [13].

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

Immunodeficiency Differential Diagnosis

Immunodeficiency disorders are characterized by an impaired immune system, making it difficult for the body to fight off infections and diseases. A differential diagnosis is a process of ruling out other possible causes of a condition before arriving at a final diagnosis.

Common Disorders with Similar Symptoms

The following disorders can have similar symptoms to immunodeficiency and should be considered in the differential diagnosis:

• Bacterial Infections: Pneumonia, meningitis, otitis, diarrhea, urinary sepsis, septicemia
• Autoimmune Disorders: Conditions where the immune system attacks healthy tissues, such as rheumatoid arthritis or lupus
• Cancer: Certain types of cancer can cause immunodeficiency-like symptoms

Laboratory Tests to Rule Out Other Causes

To confirm a diagnosis of immunodeficiency, laboratory tests should be performed to rule out other possible causes. These may include:

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

References

• [1] Acquired Immune Deficiency Syndrome (AIDS) Caused by the human immunodeficiency virus (HIV), which is a retrovirus transmitted sexually, perinatally, or blood products.
• [3] Common variable immunodeficiency (CVID) is a disorder that involves low levels of most or all of the immunoglobulin (Ig) classes, a lack of B lymphocytes or plasma cells that are capable of producing antibodies, and frequent bacterial infections.
• [4] When primary immunodeficiency is suspected, initial laboratory studies include a complete blood cell count (CBC) with manual differential, quantitative immunoglobulin measurements (IgG, IgM, IgA ...
• [6] Mar 31, 2024 — Tests used to help diagnose an immunodeficiency disorder may include: Complement levels in the blood, or other tests to measure substances ...