immunodeficiency 11B

Immunodeficiency 11B (IMD11B) Description

IMD11B, also known as Immunodeficiency 11b with atopic dermatitis, is an autosomal dominant disorder of immune dysfunction. This condition is characterized by the onset of moderate to severe atopic dermatitis in early childhood [1][2]. Atopic dermatitis, also known as eczema, is a type of skin inflammation that can cause redness, itching, and dryness.

In addition to atopic dermatitis, some patients with IMD11B may experience recurrent infections and other variable immune abnormalities [3][4]. Laboratory studies have shown defects in T-cell activation, increased IgE levels, and eosinophilia (an overabundance of eosinophils, a type of white blood cell) [5].

IMD11B is considered a rare genetic disorder, with limited information available on its prevalence and impact on affected individuals. However, it is essential to note that this condition can have significant implications for patients' quality of life, requiring careful management and monitoring by healthcare professionals.

Key Features:

• Autosomal dominant inheritance pattern
• Onset of moderate to severe atopic dermatitis in early childhood
• Recurrent infections and other variable immune abnormalities in some cases
• Defects in T-cell activation, increased IgE levels, and eosinophilia

References:

[1] Context result 2: "IMD11B is an autosomal dominant disorder of immune dysfunction characterized by onset of moderate to severe atopic dermatitis in early childhood."

[2] Context result 6: "An autosomal dominant disorder of immune dysfunction characterized by onset of moderate to severe atopic dermatitis in early childhood."

[3] Context result 9: "IMD11B is an autosomal dominant disorder of immune dysfunction characterized by onset of moderate to severe atopic dermatitis in early childhood. Some patients may have recurrent infections and other variable immune abnormalities."

[4] Context result 4: "Immunodeficiency 11b with atopic dermatitis is an autosomal dominant disorder characterized by early childhood onset of moderate to severe atopic dermatitis. Patients may experience recurrent infections and various immune abnormalities."

[5] Context result 13: "Laboratory studies show defects in T-cell activation, increased IgE levels, and eosinophilia."

Immunodeficiency Disorders: Signs and Symptoms

Immunodeficiency disorders are characterized by a weakened immune system, making it difficult for the body to fight off infections. The signs and symptoms of these disorders can vary depending on the type and severity of the condition.

• Frequent Infections: One of the most common signs of immunodeficiency is frequent and recurrent infections, such as:
  • Pneumonia
  • Bronchitis
  • Sinus infections
  • Ear infections
  • Meningitis or skin infections [10]
• Inflammation and Infection of Internal Organs: In some cases, the immune system's inability to fight off infections can lead to inflammation and infection of internal organs, such as the gastrointestinal tract, which can cause diarrhea and weight loss [2].
• Neurological Manifestations: Some immunodeficiency disorders can also affect the nervous system, leading to symptoms such as:
  • Irritability
  • Spasticity
  • Dystonic posturing
  • Psychomotor retardation
  • Microcephaly [3]
• Hypopigmentation Disorders: Certain immunodeficiency disorders can cause hypopigmentation, which is characterized by a decrease in skin and hair pigmentation [5].
• Autoimmune Conditions: In some cases, immunodeficiency disorders can lead to autoimmune conditions, such as:
  • Sepsis
  • Failure to thrive
  • Splenomegaly
  • Neutropenia [7]
• Atopic Dermatitis: Some individuals with immunodeficiency may also experience atopic dermatitis, which is characterized by dry, itchy skin and red rashes that come and go [8].
• Motor and Sensory Neuropathies: In severe cases, immunodeficiency disorders can lead to motor and sensory neuropathies, balance abnormalities, ataxia, tremor, absent deep-tendon reflexes, and other neurological symptoms [9]

It's essential to note that the signs and symptoms of immunodeficiency disorders can vary widely from person to person, and not everyone will experience all of these symptoms. If you suspect you or a loved one may have an immunodeficiency disorder, it's crucial to consult with a healthcare professional for proper diagnosis and treatment.

Immunodeficiency 11B, also known as Atopic Dermatitis with Elevated IgE and Eosinophilia, can be diagnosed through various laboratory tests.

• Blood tests: These will help determine which immune system components responsible for fighting off infection are affected, such as white blood cell counts and differential counts [7].
• Quantitative immunoglobulin (Ig) measurements: This test measures the levels of different types of antibodies in the blood, which can be low or absent in individuals with primary immunodeficiencies [10].
• Antibody titers: This test measures the level of specific antibodies against certain antigens, which can help diagnose and monitor primary immunodeficiencies [10].
• Skin testing for delayed hypersensitivity: This test assesses the body's ability to mount a delayed immune response to certain allergens or antigens [10].

Additionally, genetic testing may be used to identify known mutations causing Immunodeficiency 11B. This can involve next-generation sequencing to detect single nucleotide and copy number variants in specific genes associated with this condition [3].

It is essential to note that all requests for Leukocyte adhesion deficiency testing must be discussed with the laboratory's medical staff and/or Senior Clinical Scientist, as this test requires specialized expertise [2].

Immunosuppressive/immunomodulatory drugs to control autoimmune diseases linked to WAS

The treatment of immunodeficiencies, specifically those linked to Wiskott-Aldrich Syndrome (WAS), involves the use of immunosuppressive and immunomodulatory drugs. These medications can help control autoimmune diseases associated with WAS.

• Corticosteroids: Corticosteroids are commonly used to treat autoimmune diseases in individuals with WAS [1].
• Intravenous Immunoglobulin (IVIG): IVIG is a treatment that involves the administration of antibodies to help boost the immune system and prevent infections [1].
• Rituximab: Rituximab is an immunosuppressive medication used to treat autoimmune diseases by targeting specific immune cells [1].

These treatments can be effective in managing autoimmune diseases associated with WAS, but it's essential to consult a medical professional for personalized advice.

References: [1] - Immunosuppressive/immunomodulatory drugs to control autoimmune diseases linked to WAS include corticosteroids, intravenous immunoglobulin (IVIG), rituximab, ... (Search Result 1)

Differential Diagnosis of Immunodeficiency 11B

Immunodeficiency 11B (IMD11B) is a rare primary immunodeficiency disease characterized by atopic dermatitis, elevated IgE levels, and eosinophilia. When diagnosing IMD11B, it's essential to consider other conditions that may present with similar symptoms.

Possible Differential Diagnoses:

• Atopic Dermatitis: A chronic inflammatory skin condition characterized by dry, itchy, and scaly skin. While atopic dermatitis is a hallmark of IMD11B, it can also occur in individuals without immunodeficiency.
• Eczema: A general term for various types of skin inflammation, including atopic dermatitis. Eczema can be caused by a range of factors, including allergies and environmental triggers.
• Allergies: Elevated IgE levels are a hallmark of IMD11B, but high IgE levels can also occur in individuals with allergies, such as hay fever or food allergies.
• Eosinophilia: An increase in eosinophil count can be seen in various conditions, including parasitic infections, allergic reactions, and certain types of cancer.

Key Diagnostic Considerations:

• Genetic testing: Genetic studies are essential for diagnosing IMD11B, as it is an autosomal dominant disorder caused by mutations in the CARD11 gene.
• Immunological evaluation: A comprehensive immunological evaluation, including IgE levels, eosinophil count, and other immune function tests, can help differentiate IMD11B from other conditions.

References:

• [11] Immunodeficiency 11B with atopic dermatitis (IMD11B, OMIM:617638) is a rare primary immunodeficiency disease caused by germline dominant mutations in the CARD11 gene.
• [12] A study on immune deficiency and dysregulation linked to CARD11 mutations provides an improved differential diagnosis for clinicians.

Note: The information provided above is based on the search results and context, which include references [11] and [12].