immunodeficiency 21

Immunodeficiency 21 (IMD21): A Rare Genetic Disease

Immunodeficiency 21, also known as IMD21, DCML, or MONOMAC, is a rare genetic disease characterized by severely decreased or absent monocytes, B lymphocytes, natural killer lymphocytes, and dendritic cells, while T-cell numbers remain unaffected [3]. This condition is caused by a heterozygous mutation in the GATA2 gene on chromosome 3q21 [1].

Key Features:

• Severely decreased or absent monocytes, B lymphocytes, natural killer lymphocytes, and dendritic cells
• T-cell numbers remain unaffected
• Caused by a heterozygous mutation in the GATA2 gene on chromosome 3q21

Clinical Features:

The clinical features of IMD21 are variable and include susceptibility to disseminated nontuberculous mycobacterial infections [11]. Individuals with this condition may also experience recurrent infections, some of which can be life-threatening [9].

Comparison with Other Conditions:

IMD21 is distinct from other immunodeficiency disorders, such as primary lymphedema with myelodysplasia (Emberger syndrome), which is an allelic disorder with overlapping clinical features [1]. It is also different from acquired immune deficiency syndrome (AIDS), caused by the human immunodeficiency virus (HIV) [12].

References:

[1] IMMUNODEFICIENCY 21; IMD21 description, symptoms and related genes. [3] Immunodeficiency 21, also known as IMD21, DCML, or MONOMAC, is a rare genetic disease characterized by severely decreased or absent monocytes, B lymphocytes, natural killer lymphocytes, and dendritic cells, while T-cell numbers remain unaffected. [9] Monosomy 21 is an extremely rare genetic disorder presenting with a wide array of symptoms. Recurrent infections, some life threatening, have been reported. [11] This primary immunodeficiency, designated IMD21, DCML, or MONOMAC, is characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells (DCs), with little or no effect on T-cell numbers. Clinical features of IMD21 are variable and include susceptibility to disseminated nontuberculous mycobacterial infections ...

Common Signs and Symptoms of Immunodeficiency

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 pneumonia, bronchitis, sinus infections, ear infections, meningitis, or skin infections [1][2].
• Inflammation and Infection of Internal Organs: Immunodeficiency can lead to inflammation and infection of internal organs, including the lungs, liver, spleen, and kidneys [1].
• Fatigue: Feeling extremely tired, like you do when you have the flu, could mean something's going on with your body's defenses [3][4].
• Joint or Muscle Ache: Some people may experience joint or muscle ache, which can be a sign of immunodeficiency [3].
• Poor Response to Treatment: People with immunodeficiency may not respond well to treatment for infections, leading to delayed or incomplete recovery from illness [5].
• Recurring Ear and Sinus Infections: Immunodeficiency can cause recurring ear and sinus infections, which can be a sign of the condition [6][7].

It's essential to note that these symptoms can vary depending on the type and severity of immunodeficiency. If you're experiencing any of these symptoms, it's crucial to consult with a healthcare professional for proper diagnosis and treatment.

References: [1] Context result 1 [2] Context result 5 [3] Context result 4 [4] Context result 8 [5] Context result 11 [6] Context result 10 [7] Context result 12

Diagnostic Tests for Immunodeficiency

Immunodeficiency can be diagnosed through various tests that measure the levels and function of different components of 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 levels of different types of blood cells, including white blood cells, red blood cells, and platelets [3].
• Quantitative Immunoglobulin (Ig) measurements: This test measures the levels of specific antibodies in your blood, such as IgG, IgA, and IgM [5].
• Antibody titers: This test measures the levels of antibodies against specific pathogens, such as bacteria or viruses [3].
• Skin testing for delayed hypersensitivity: This test assesses the immune system's ability to respond to certain substances, such as allergens or antigens [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 genetic mutations that cause primary immunodeficiency (PI) [2].
• Blood tests to identify specific immune system abnormalities: Blood tests can help identify specific immune system abnormalities, such as low levels of certain antibodies or immune cells [4].

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.).

[4] To confirm your diagnosis, your provider may order tests that include: Blood tests to identify specific immune system abnormalities. ... If you’ve received a primary immunodeficiency diagnosis, your treatment goals will include managing current infections and preventing future infections.

[5] Laboratory tests are needed to confirm the diagnosis of immunodeficiency and to identify the type of immunodeficiency disorder. Lab Test. Immunoglobulins Blood Test.

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 infection.
  • According to [4], in 2020-2021, 7275 people with immunodeficiency were prescribed immunoglobulin therapy.
  • This treatment is often used for individuals who have alterations in antibody quantity or quality, as most patients with IEI (Immunodeficiency with Infections) have [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].
• Immunosuppressants: These drugs prevent the immune system from attacking healthy cells and tissues by mistake. They can be used to treat associated conditions with immunodeficiency, such as autoimmune disorders.
  • Examples of immunosuppressants include corticosteroids (used to treat health problems like rheumatoid arthritis) [8], and other medications that affect the functions of both T and B lymphocytes [12].
• Antiviral Drugs: These medications are sometimes used to treat viral infections caused by immunodeficiency disorders. Examples include oseltamivir, acyclovir, and interferon.
  • Other antiviral drugs like rituximab have been used to treat associated hemolytic conditions [7].

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

The differential diagnosis for Immunodeficiency 21 (IMD21) involves considering various conditions that may present with similar symptoms and laboratory findings.

According to the search results, IMD21 is characterized by profoundly decreased or absent monocytes, B lymphocytes, and other immune cells [3]. This condition can be distinguished from other immunodeficiencies based on its specific cellular deficiencies.

Some possible differential diagnoses for IMD21 include:

• Common Variable Immunodeficiency (CVID): a primary humoral immunodeficiency disorder characterized by reduced serum levels of immunoglobulin G (IgG) and immunoglobulin A (IgA) or immunoglobulin M (IgM), recurrent sinopulmonary infections, autoimmune disorders, granulomatous diseases, and enhanced risk of malignancies [14].
• Severe Combined Immunodeficiency (SCID): a group of rare genetic disorders characterized by the absence or near-absence of functional T cells and/or B cells, leading to severe immunodeficiency and increased susceptibility to infections [6].
• GATA2 deficiency: a unique primary immune deficiency that is also known as immunodeficiency 21, DCML, or MonoMAC (OMIM #614172) [5].

To arrive at a diagnosis of IMD21, it is essential to consider the patient's clinical presentation, laboratory findings, and family history. A comprehensive evaluation, including complete blood count (CBC), quantitative immunoglobulin measurements, antibody titers, and skin testing for delayed hypersensitivity, may be necessary to rule out other conditions [2].

References:

[3] This primary immunodeficiency, designated IMD21, DCML, or MONOMAC, is characterized by profoundly decreased or absent monocytes, B lymphocytes, ...

[5] Immunodeficiency Disorder · GATA2 deficiency is a unique primary immune deficiency that is also known as immunodeficiency 21, DCML, or MonoMAC (OMIM #614172).

[6] SCID is defined as the presence of less than 0.05 × 109 autologous T cells/L and/or B cells/L.

[14] Common Variable Immunodeficiency disorder (CVID) is diverse, both in its clinical presentation and in the types of deficiency.