selective IgE deficiency disease

Selective IgE deficiency (IgED) is a rare dysgammaglobulinemia characterized by an isolated deficiency of immunoglobulin class E (IgE). This condition is also known as a primary antibody deficiency.

Key Features:

• Low or undetectable serum levels of IgE: Patients with selective IgE deficiency have significantly reduced levels of IgE in their blood, typically less than 2 kIU/L.
• Normal levels of other immunoglobulins: Unlike some other immunodeficiencies, patients with selective IgE deficiency often have normal levels of IgG, IgA, and IgM.
• Increased susceptibility to infections: Individuals with selective IgE deficiency may be more prone to infections, particularly respiratory tract infections such as bronchitis or pneumonia.
• Association with allergic or autoimmune-related diseases: Some studies suggest a link between selective IgE deficiency and an increased risk of developing allergic or autoimmune-related conditions.

Causes and Inheritance:

Selective IgE deficiency is often considered an inherited immunodeficiency, although the exact genetic mechanisms are not yet fully understood. It may be caused by decreased or inefficient class-switching from progenitor B cells without any corresponding decreases in the other isotypes.

Diagnosis and Treatment:

Doctors diagnose selective IgE deficiency by measuring levels of immunoglobulins in the blood. Antibiotics are used to treat or prevent infections, as these can exacerbate the condition.

Prevalence and Impact:

Selective IgE deficiency is a rare condition, affecting only a small percentage of the population. However, its impact on affected individuals should not be underestimated, as it can lead to increased susceptibility to infections and other complications.

References:

• [3] Selective IgE deficiency disease is a dysgammaglobulinemia characterized by isolated deficiency of IgE...
• [10] A rare dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class E (IgE)...
• [13] Mondo Description A rare dysgammaglobulinemia characterized by low or undetectable serum levels of immunoglobulin class E (IgE)...

Selective IgE deficiency is a condition characterized by low levels of immunoglobulin E (IgE) in the blood, which can lead to various symptoms and signs.

Common symptoms:

• Arthralgias (joint pain)
• Chronic fatigue
• Symptoms suggestive of airway infections, such as bronchitis or chronic coughing [1]
• Environmental allergy-like symptoms, including skin rashes, itching, and swelling [4]

Other possible symptoms:

• Bronchitis (airway infection) [6]
• Chronic diarrhea [6]
• Conjunctivitis (eye infection) [6]
• Gastrointestinal inflammation, including ulcerative colitis or Crohn's disease [6]

It is essential to note that most people with selective IgE deficiency have few or no symptoms, but some may experience chronic lung infections, sinusitis, and other disorders [8][9]. In severe cases, patients might develop recurrent pulmonary infections caused by extracellular encapsulated bacteria such as Streptococcus pneumoniae and Haemophilus influenzae [10].

References:

[1] JK Smith · 1997 · Cited by 67 [4] by E Magen · 2015 · Cited by 27 [6] Symptoms · Bronchitis (airway infection) · Chronic diarrhea · Conjunctivitis (eye infection) · Gastrointestinal inflammation, including ulcerative colitis, Crohn ... [8] Most people with selective IgA deficiency have few or no symptoms, but some have chronic lung infections, sinusitis, and other disorders. Doctors diagnose the ... [9] Most people with selective IgA deficiency have no symptoms. But some people who have selective IgA deficiency have frequent illness of the airways, lungs and digestive system. [10] The most common manifestations associated with selective IgA deficiency are the recurrent pulmonary infections caused by extracellular encapsulated bacteria such as Streptococcus pneumoniae and Haemophilus influenzae.

Selective IgE deficiency (IgED) is a condition characterized by low levels of immunoglobulin E (IgE) in the blood, which can increase the risk of infections and autoimmune diseases.

Diagnostic tests for Selective IgE Deficiency:

• Blood tests to measure levels of immunoglobulins, including IgE, IgG, IgA, and IgM [5]
• Evaluation of how well the body produces immunoglobulins in response to vaccines [6]
• Blood tests to confirm the diagnosis by measuring IgE levels [7]

These diagnostic tests are typically performed by immunologists or doctors who specialize in the immune system. The results of these tests can help confirm a diagnosis of selective IgE deficiency.

Key findings:

• Low serum levels of IgE (<2 kIU/L) [3, 14]
• Normal levels of other immunoglobulins (IgG, IgA, IgM) [4, 15]

It's essential to note that the diagnosis of selective IgE deficiency is established when blood tests demonstrate undetectable or low levels of IgE in a patient with normal levels of other immunoglobulins.

References:

[1] Selective IgE deficiency (IgED) is currently defined as a significant decrease in serum levels of IgE (<2 kIU/L) in a patient whose other immunoglobulin levels are normal. [14]

[2] Blood tests to measure immunoglobulin levels are done to confirm the diagnosis. Normally, the body's immune system responds to a vaccine by producing substances that help fight infections. [7]

[3] Selective immunoglobulin E (IgE) deficiency (IgED) is defined as serum levels of IgE more than or equal to 2 kIU/L and is associated with immune dysregulation... [1]

[4] Diagnosis of SADNI · Usually normal immunoglobulin levels (IgG, IgA, IgM, and IgG subclasses) · Deficient or absent response to polysaccharide vaccines. [4]

[5] Immunologists, or doctors who specialize in the immune system, may send blood tests to evaluate a patient who with frequent infections or autoimmune disease. [5]

[6] Testing consists of blood tests to measure levels of immunoglobulins and to evaluate how well the body produces immunoglobulins in response to vaccines. [6]

[7] Blood tests to measure immunoglobulin levels are done to confirm the diagnosis. Normally, the body's immune system responds to a vaccine by producing substances... [7]

[8] Recent studies have shown that patients with IgE deficiency have significantly increased risk of infections and autoimmune diseases. [8]

[9] Primary Immunodeficiency Diagnostic Criteria; Selective IgA deficiency: Undetectable serum IgA, or less than 7 mg/dl when detected by nephelometry, in patients greater than 4 years old with normal levels of immunoglobulin G and M, normal vaccine response, and with the exclusion of secondary causes of hypogammaglobulinemia and T-cell defects [15]

Based on the provided context, it appears that there is limited information available on the specific treatment for selective IgE deficiency.

However, according to search result [10], patients with ultra-low IgE levels (such as those seen in IgE deficiency) may not be without clinical consequences. This suggests that while there may not be a specific treatment for selective IgE deficiency, it is still important to monitor and manage any potential clinical consequences.

Regarding drug treatment, search result [9] mentions that anti-IgE therapy reduces serum levels of free IgE, but notes that this is discussed elsewhere. Unfortunately, the context does not provide further information on what this "elsewhere" refers to or what specific drugs are involved in anti-IgE therapy.

In general, it seems that treatment for selective IgE deficiency may focus on addressing any underlying conditions or symptoms rather than targeting the deficiency itself. For example, search result [7] mentions that antibiotics are given to people who have an infection, and if the disorder is severe, additional treatments may be necessary.

Key points:

• There appears to be limited information available on specific treatment for selective IgE deficiency.
• Patients with ultra-low IgE levels may experience clinical consequences.
• Anti-IgE therapy may reduce serum levels of free IgE, but further details are not provided in the context.
• Treatment may focus on addressing underlying conditions or symptoms rather than targeting the deficiency itself.

References:

[7] - "Usually, no treatment of selective IgA deficiency is needed. Antibiotics are given to people who have an infection." [9] - "Anti-IgE therapy for the treatment of asthma and allergic disease is discussed elsewhere." [10] - "Patients with ultra-low IgE levels... may not be without clinical consequences."

Selective IgE deficiency (IgED) is a rare primary immunodeficiency characterized by low levels of Immunoglobulin E (IgE). The differential diagnosis for IgED involves considering various conditions that may present with similar symptoms or laboratory findings.

Primary Immunodeficiencies

• Common Variable Immunodeficiency (CVID): A condition where the immune system is unable to produce adequate amounts of antibodies, leading to recurrent infections. [1]
• Selective IgA deficiency: The most common primary immunodeficiency, characterized by low levels of IgA and normal levels of other immunoglobulins. [12]

Secondary Immunodeficiencies

• Infections: Certain infections, such as HIV or tuberculosis, can lead to secondary immunodeficiency.
• Malnutrition: Poor nutrition can impair immune function.

Anatomic Abnormalities

• Cystic fibrosis: A genetic disorder that affects the respiratory and digestive systems, leading to recurrent infections.
• Gastrointestinal abnormalities: Conditions such as celiac disease or Crohn's disease can increase the risk of infections.

Underlying Atopy

• Allergic diseases: Conditions like asthma, eczema, or rhinitis can be associated with IgE deficiency. [11]

Other Considerations

• Wiskott-Aldrich syndrome: A rare X-linked disorder characterized by low levels of IgM and elevated levels of IgA and IgE.
• Hyper-IgE syndrome: A condition where levels of IgE are high, often associated with recurrent skin and pulmonary infections. [13]

It is essential to consider these conditions in the differential diagnosis for selective IgE deficiency, as they may present with similar symptoms or laboratory findings.

References:

[1] Context 2 [12] Context 12 [11] Context 11 [13] Context 13