immunodeficiency 31A

Immunodeficiency 31A (IMD31A) is a rare autosomal dominant disorder characterized by a partial defect in the interferon-gamma pathway, leading to mild mycobacterial infections such as Bacillus Calmette-Guerin (BCG) vaccine, environmental non-tuberculous mycobacteria, and by the more virulent Mycobacterium tuberculosis [4].

This condition is caused by impairment of interferon-gamma mediated immunity, which is crucial for cellular responses to type I and III interferons [2][6]. The defect selectively affects the IFNG pathway, but not the IFNA/IFNB pathway, resulting in a predisposition to mycobacterial infections [2][3].

IMD31A is a primary immunodeficiency disease characterized by impaired response to IFNG but not to INFA or IFNB, leading to increased susceptibility to mycobacterial diseases [8][9]. The condition is often associated with mild mycobacterial infections, such as BCG vaccine and environmental non-tuberculous mycobacteria, and can also be caused by the more virulent Mycobacterium tuberculosis [4].

In summary, IMD31A is a rare autosomal dominant disorder characterized by a partial defect in the interferon-gamma pathway, leading to mild mycobacterial infections and increased susceptibility to mycobacterial diseases.

References: [2] - The condition is caused by impairment of interferon-gamma mediated immunity. [3] - The defect selectively affects the IFNG pathway, but not the IFNA/IFNB pathway. [4] - IMD31A is a rare autosomal dominant disorder characterized by a partial defect in the interferon-gamma pathway. [6] - The condition is caused by impairment of interferon-gamma mediated immunity. [8] - IMD31A is a primary immunodeficiency disease characterized by impaired response to IFNG but not to INFA or IFNB.

Immunodeficiency 31A, also known as STAT1 gene mutation-related immunodeficiency, can manifest in various ways. According to the available information, individuals with this condition may experience:

• Recurrent severe infections due to immunodeficiency in early infancy or in the first years of life [1]
• Increased susceptibility to mycobacteria, Salmonella, and viruses [7]

It's essential to note that the signs and symptoms can vary from person to person. However, these two points are specifically mentioned as characteristics of immunodeficiency 31A.

Additionally, it's worth mentioning that this condition is often associated with other immune system problems, such as immunodeficiency 31B and immunodeficiency 31C [2][4]. The combination of signs and symptoms caused by STAT1 gene mutations can sometimes be referred to as immunodeficiency 31C [4].

It's also important to note that some individuals may experience non-immunologic features, including osteopenia, delayed puberty, and intracranial aneurysms [5]. However, these are not specific signs of immunodeficiency 31A.

References: [1] - Context result 1 [2] - Context result 4 [4] - Context result 4 [7] - Context result 7

Diagnostic Tests for Immunodeficiency

Immunodeficiency can be diagnosed through various laboratory tests that measure the levels and function of different components of the immune system.

• Blood tests: Blood tests are a crucial part of diagnosing immunodeficiency. They can determine if you have typical levels of infection-fighting proteins (immunoglobulins) in your blood, measure the levels of blood cells and immune system cells, and identify specific immune system abnormalities [1][3].
• Complete Blood Count (CBC): A CBC with manual differential is an initial screening test that can detect abnormalities in blood cells characteristic of specific immunodeficiency disorders [3][5].
• Quantitative Immunoglobulin (Ig) measurements: This test measures the levels of certain antibodies in your blood, which can indicate a serious health problem if abnormal [9].
• Antibody titers: Antibody titers are used to measure the levels of specific antibodies in your blood, which can help diagnose immunodeficiency [3][5].
• Skin testing for delayed hypersensitivity: This test is used to assess the immune system's ability to respond to certain substances [3].

Additional Tests

If clinical findings or initial tests suggest a specific disorder of immune cell or complement function, additional tests are indicated for confirmation. These may include:

• Genetic testing: Genetic sequencing can identify known mutations causing various types of primary immunodeficiency (PI) [2].
• Immunoglobulins Blood Test: This test measures the levels of certain antibodies in your blood, which can indicate a serious health problem if abnormal [9].

Confirming Diagnosis

To confirm a diagnosis of immunodeficiency, healthcare providers may order tests that include:

• Blood tests to identify specific immune system abnormalities
• Immunoglobulins Blood Test: This test measures the levels of certain antibodies in your blood, which can indicate a serious health problem if abnormal [9].

References

[1] Context 1 [2] Context 2 [3] Context 3 [5] Context 5 [9] Context 9

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:

• Immunoglobulin Replacement Therapy: This is a blood-based treatment that provides people with the antibodies (immunoglobulins) they need to fight infection. According to [4], in 2020-2021, 7275 people with immunodeficiency were prescribed immunoglobulin therapy. This type of treatment is often used for people with severe antibody deficiency due to either having a primary or secondary immunodeficiency.
• 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 people with immunodeficiency [7].
• Corticosteroids: These medications can be used to treat health problems such as rheumatoid arthritis, inflammatory bowel disease, and certain skin conditions [8]. However, they should be used with caution and under the guidance of a healthcare provider.
• Rapamycin: This medication has been suggested for treatment, but its proper evaluation is still awaited [7].
• Immunoglobulin Therapy (IVIg): This type of infusion contains antibodies gathered from the plasma of healthy individuals. It can be used to treat primary immunodeficiency and other conditions [9].

It's essential to note that individual risks and benefits should be discussed with a healthcare provider before starting any treatment. Additionally, antiviral drugs like oseltamivir and acyclovir may be used for treating viral infections caused by immunodeficiency disorders [13].

Differential Diagnosis of Immunodeficiency 31A (IMD31A)

Immunodeficiency 31A (IMD31A) is a rare genetic disorder caused by autosomal dominant STAT1 deficiency. The differential diagnosis of IMD31A involves identifying other conditions that may present with similar symptoms.

Key Conditions to Consider:

• Mycobacterial infections: Patients with IMD31A are susceptible to mycobacterial infections, including those caused by bacillus Calmette-Guerin (BCG), Mycobacterium avium complex, and Mycobacterium tuberculosis.
• Primary immunodeficiency diseases: Other primary immunodeficiency diseases, such as severe combined immunodeficiency (SCID) and common variable immunodeficiency (CVID), may present with similar symptoms.
• Malignancies: Patients with SCID are at increased risk of malignancies, which can be a differential diagnosis for IMD31A.

Diagnostic Considerations:

• Genetic testing: Genetic testing is essential to confirm the diagnosis of IMD31A. A genetic study diagnoses this immunodeficiency.
• Laboratory evaluation: Laboratory evaluation, including complete blood count (CBC) with manual differential and quantitative immunoglobulin (Ig) measurements, may be necessary to rule out other conditions.

References:

• [1] Immunodeficiency 31A is caused by autosomal dominant STAT1 deficiency, affecting the IFNG pathway and leading to susceptibility to mycobacterial infections.
• [6] MSMD is a primary immunodeficiency with molecular defects in the IL12/IFNγ dependent signaling pathway, increasing susceptibility to infections by various pathogens.
• [13] A genetic study diagnoses this immunodeficiency. Severe combined immunodeficiency diseases (SCID) are mostly characterized by the presence of recurrent bacterial infections, but they are rule out because they are other manifestations such as malignancies and recurrent viral, fungal, parasitic and opportunistic infections.

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