immunodeficiency 15A

Immunodeficiency 15A (IMD15A) is an autosomal dominant primary immunodeficiency disorder characterized by relatively late onset of recurrent respiratory tract infections [1,3,5]. It is a combined T cell and B cell immunodeficiency that affects the immune system's ability to fight off infections [6,7,9].

The symptoms of IMD15A include:

• Recurrent respiratory tract infections
• Decreased proportion of CD4-positive helper T cells [8]
• Immune dysregulation
• Combined T and B cell deficiency
• Inflammation
• Epithelial defects

IMD15A is a rare condition, and its exact prevalence is unknown. However, it is considered to be a relatively late-onset immunodeficiency disorder, meaning that symptoms typically appear later in life compared to other types of immunodeficiencies.

References: [1] - Search result 1 [3] - Search result 3 [5] - Search result 5 [6] - Search result 6 [7] - Search result 7 [8] - Search result 8 [9] - Search result 9

Immunodeficiency 15A (IMD15A) is an autosomal dominant primary immunodeficiency disorder characterized by relatively late onset of recurrent respiratory tract infections, among other symptoms.

Common signs and symptoms:

• Recurrent respiratory tract infections [1]
• Oral thrush [4]
• Fever [4]
• Failure to thrive [4]

Some patients with IMD15A may also experience:

• Lymphadenopathy (enlarged lymph nodes) [4]
• Hepatosplenomegaly (enlarged liver and spleen) [4]
• Absence of or delayed appearance of certain infections, such as tuberculosis [5]

It's worth noting that the severity and presentation of IMD15A can vary among individuals. In some cases, the disorder may be associated with more severe symptoms, including embryonic lethality in the case of the related gene IMD15A/B [6].

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. 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 white blood cells, red blood cells, and platelets [3].
• Quantitative immunoglobulin (Ig) measurements: This test measures the levels of different types of antibodies in your blood, such as IgM, IgG, and IgA [9].
• Antibody titers: Antibody titers measure the level of antibodies against specific pathogens, which can indicate an immune deficiency [3].
• Skin testing for delayed hypersensitivity: This test measures the skin's reaction to certain substances, which can indicate a problem with cell-mediated immunity [3].

These tests are often used in combination to confirm a diagnosis of immunodeficiency. It's essential to consult with a healthcare provider to determine the best course of action and to discuss any concerns or questions you may have.

References:

[1] The Immune Deficiency Foundation has a peer support program as well as information on living with primary immunodeficiency. [3] Tests are needed to confirm a diagnosis of immunodeficiency (see table Initial and Additional Laboratory Tests for Immunodeficiency). [9] An immunoglobulins blood test measures the amounts of IgM, IgG, and IgA in your blood to help diagnose different types of health conditions that may affect the immune system.

Treatment Options for Immunodeficiency

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

• Immunoglobulin Replacement Therapy: This is a common treatment for people with severe antibody deficiency due to primary or secondary immunodeficiency. It involves administering antibodies (immunoglobulins) through an intravenous infusion to help fight infections.
  • According to [4], in 2020-2021, 7275 people with immunodeficiency were prescribed immunoglobulin therapy.
  • This treatment is also known as IVIG and can be used to manage various immunodeficiency states, including autoimmune, infectious, and inflammatory conditions. (See [14])
• 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. (See [3])
• Immunosuppressants: These drugs can be used to treat immunodeficiency by preventing the immune system from attacking healthy cells and tissues by mistake.
  • Examples of immunosuppressants include corticosteroids, which are medicines used to treat health problems such as rheumatoid arthritis, inflammatory bowel disease, and certain skin conditions. (See [8])
• Antiviral Drugs: These medications can be used to treat viral infections caused by immunodeficiency disorders.
  • Examples of antiviral drugs include oseltamivir and acyclovir, or a drug called interferon. (See [13])

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

References:

[3] Gene therapy for primary immunodeficiency [4] Immunoglobulin replacement therapy for immunodeficiency [8] Corticosteroids as immunosuppressants [13] Antiviral drugs for viral infections [14] Intravenous immunoglobulin (IVIG) therapy

Immunodeficiency 15A (IMD15A) Differential Diagnosis

Immunodeficiency 15A (IMD15A) is an autosomal dominant primary immunodeficiency disorder, which means it is inherited in a dominant pattern and affects the immune system's ability to fight off infections. The differential diagnosis of IMD15A involves ruling out other conditions that may present with similar symptoms.

Key Features of IMD15A:

• Autosomal dominant inheritance
• Primary immunodeficiency disorder
• Impaired immune response to infections

Differential Diagnosis Considerations:

• Common Variable Immunodeficiency (CVID): A primary immunodeficiency disorder characterized by impaired antibody production and increased susceptibility to infections.
• Severe Combined Immunodeficiency (SCID): A rare, life-threatening condition caused by a mutation in the gene encoding for the IL2RG protein, leading to severe impairment of both T-cell and B-cell function.

Diagnostic Criteria:

• Family history of immunodeficiency disease
• Use of intravenous antibiotics for sepsis in children with recurrent infections
• DNA analysis from hair roots may be particularly useful for diagnosing X-linked SCID

References:

• Sanges S, et al. (2023) - Immunodeficiency 15A is an autosomal dominant primary immunodeficiency disorder [1].
• Ting et al. (1999) - DNA from hair roots was found to be particularly useful for the diagnosis of X-linked SCID in children who had been subjected to bone marrow transplantation [6].

Note: The above information is based on search results 1 and 6, which provide relevant details about Immunodeficiency 15A and its differential diagnosis.