hyper IgE recurrent infection syndrome 3

Characteristics of Hyper IgE Recurrent Infection Syndrome

Hyper IgE recurrent infection syndrome, also known as Job syndrome or Hyper-IgE syndrome (HIES), is a rare primary immunodeficiency disorder characterized by several distinct features. The condition is marked by:

• Recurrent bacterial infections: Affected individuals tend to experience repeated bouts of skin and lung infections, often caused by Staphylococcus aureus.
• Skeletal abnormalities: People with HIES may have characteristic facial features, such as a prominent forehead, a broad nose, and an underdeveloped jaw. They may also experience skeletal abnormalities, including joint problems and bone deformities.
• Elevated IgE levels: One of the hallmark symptoms of HIES is extremely high levels of immunoglobulin E (IgE) in the blood.

These features are often accompanied by other complications, such as:

• Frequent pneumonia: Individuals with HIES are prone to recurring episodes of pneumonia.
• Skin abscesses: They may experience repeated skin infections, which can lead to abscesses and scarring.
• Other health issues: Some people with HIES may also experience developmental delays, allergies, and autoimmune disorders.

It's essential for individuals with suspected HIES to receive proper medical attention from a qualified healthcare professional. Early diagnosis and treatment can significantly improve their quality of life and help manage the condition effectively.

References:

• [3] The disorder is characterized by repeated bacterial infections of the skin and lungs (pneumonia), skeletal abnormalities, and characteristic facial features.
• [8] The disorder is characterized by the triad of highly elevated levels of IgE in serum, recurring abscesses of the skin, and recurrent pneumonia AR-HIES is ...
• [9] Hyper IgE syndromes (HIES) are a group of PID presenting with recurrent infections, eczema, and elevated serum IgE. HIES has either autosomal dominant (AD-HIES) ...

Recurring Skin Infections and Other Signs and Symptoms

Hyper IgE syndromes (HIES) are characterized by several distinct signs and symptoms, including:

• Frequent skin infections: Abscesses in the skin or lungs that reoccur [2]
• Dry, itchy skin (eczema): A common symptom of HIES, eczema can cause rashes, blisters, accumulations of pus (abscesses), open sores, and scaling [3]
• Frequent pneumonia: Recurring lung infections are a hallmark of HIES [2]
• Yeast infections: Individuals with HIES may experience recurring yeast infections [2]

These symptoms can vary in severity and frequency from person to person, but they often occur together as part of the syndrome.

Diagnostic Tests for Hyper IgE Recurrent Infection Syndrome

Hyper IgE recurrent infection syndrome (HIES) can be diagnosed through a combination of clinical and laboratory findings. The following diagnostic tests are commonly used to confirm the diagnosis:

• Blood tests: Elevated levels of immunoglobulin E (IgE) in the blood are a hallmark of HIES. A high level of IgE (> 2000 IU/mL or > 4800 mcg/L) is often used as a diagnostic criterion [14].
• Genetic testing: Genetic tests can be done to identify mutations in the STAT3 gene, which is associated with HIES [13]. This test can help confirm the diagnosis and predict inheritance patterns.
• Immunologic studies: Laboratory studies such as blood tests that demonstrate elevated IgE levels and absolute eosinophil count can aid in a diagnosis of HIES [6].
• Serum globulin electrophoresis: This test is used to look for high blood IgE levels, which is often present in individuals with HIES [8].

These diagnostic tests are typically performed after a thorough clinical evaluation, including a review of the patient's medical history and physical examination. A diagnosis of HIES can be confirmed when a combination of these findings is present.

References:

[3] Mar 23, 2023 — This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 21 genes associated with hyper-IgE syndrome. [6] Laboratory studies that may aid in a diagnosis include blood tests that demonstrate elevated ... Hyper IgE Recurrent Infection Syndrome, Autosomal Dominant. Entry ... [8] Oct 3, 2024 — Exams and Tests · Absolute eosinophil count · CBC with blood differential · Serum globulin electrophoresis to look for high blood IgE level ... [14] The diagnosis is confirmed by blood tests that detect a high level of IgE. Genetic tests can be done to check for the abnormal genes. [13] STAT3 hyper IgE syndrome (STAT3-HIES) is a primary immune deficiency syndrome characterized by elevated serum IgE, eczema, and recurrent skin and respiratory tract infections, together with several nonimmune features.

Treatment Options for Hyper-IgE Syndrome

Hyper-IgE syndrome, also known as Job syndrome, is a rare genetic disorder characterized by recurring skin and lung infections, elevated levels of immunoglobulin E (IgE), and eczema. While there is no cure for this condition, various treatment options are available to manage its symptoms.

• Antibiotics: Antibiotic therapy is often necessary to combat bacterial infections that frequently occur in individuals with hyper-IgE syndrome.
• Skin care: Good skin care practices, such as using emollient creams and avoiding harsh soaps, can help alleviate dermatitis and prevent skin abscesses.
• Antihistamines: Antihistamines may be prescribed to relieve itching and reduce the severity of allergic reactions.

According to search result [3], treatment for Hyper-IgE Syndrome typically involves:

• Dermatitis is treated with skin hydration, emollient creams, antihistamines. and, if infections are suspected, antibiotics.
• Treatment of infections can be difficult and management often requires a multidisciplinary approach.

It's essential to note that each individual's experience with hyper-IgE syndrome may vary, and treatment plans should be tailored to their specific needs and circumstances.

Sources: [3] Oct 17, 2023 — Treatment of Hyper-IgE Syndrome

The differential diagnosis for Hyper-IgE Syndrome (HIES) and its associated recurrent infections should include several conditions, particularly in children with eczema and significantly elevated IgE levels.

• Atopic Dermatitis: This is the most common differential diagnosis, as it also presents with eczematoid rashes and can have elevated IgE levels [6][10].
• Cystic Fibrosis: Another condition that should be considered in the differential diagnosis, especially in children with recurrent respiratory infections [9].
• Chronic Granulomatous Disease (CGD): A rare genetic disorder characterized by recurring severe infections, which can also present with skin and lung involvement [9].
• Severe Atopic Dermatitis: This condition can mimic HIES in its presentation, including eczematoid rashes and elevated IgE levels [8].

It's essential to note that the diagnosis of HIES is confirmed through measurement of serum IgE levels and other specific tests. Treatment for HIES typically involves supportive measures, such as lifelong prophylactic antibiotics, and may include other interventions depending on the severity of symptoms [4].