hyper IgE recurrent infection syndrome 4

Hyper IgE Recurrent Infection Syndrome (HIES)

Hyper IgE recurrent infection syndrome, also known as Job syndrome, is a rare primary immune deficiency characterized by elevated serum IgE levels, skin and lung infections, skeletal abnormalities, and characteristic facial features.

• Recurrent Infections: People with HIES tend to experience frequent bouts of pneumonia, which are caused by bacterial or viral infections. They may also have repeated bacterial infections of the skin.
• Skin and Lung Infections: The disorder is characterized by recurring abscesses of the skin and lungs (pneumonia).
• Skeletal Abnormalities: HIES can lead to skeletal abnormalities, such as joint problems and bone deformities.
• Characteristic Facial Features: Individuals with HIES often have characteristic facial features, including a prominent forehead, a broad nose, and an underdeveloped jaw.

Causes and Risk Factors

HIES is caused by mutations in the STAT3 gene, which plays a crucial role in the development of immune cells. The disorder can be inherited from one's parents or occur spontaneously due to a genetic mutation.

• Genetic Mutation: HIES is caused by a mutation in the STAT3 gene.
• Inheritance: The disorder can be inherited from one's parents or occur spontaneously.

Symptoms and Diagnosis

The symptoms of HIES can vary depending on the severity of the condition. Common symptoms include:

• Recurring Infections: Frequent bouts of pneumonia and skin infections
• Skin Abscesses: Recurring abscesses of the skin
• Skeletal Abnormalities: Joint problems and bone deformities
• Characteristic Facial Features: A prominent forehead, a broad nose, and an underdeveloped jaw

Diagnosis is typically made based on clinical evaluation, laboratory tests, and genetic analysis.

• Clinical Evaluation: A thorough medical history and physical examination are essential for diagnosing HIES.
• Laboratory Tests: Blood tests can help identify elevated IgE levels and other immune system abnormalities.
• Genetic Analysis: Genetic testing can confirm the presence of a STAT3 mutation.

Treatment and Management

While there is no cure for HIES, treatment options can help manage symptoms and prevent complications. These include:

• Antibiotics: To treat recurring infections
• Cream Medicine: For skin rash and abscesses
• Pulmonary Function Tests: To monitor lung function and detect any abnormalities

References

1. [4] - PGM3 deficiency can lead to recurrent bacterial and viral infections, autoimmunity, inflammation, severe allergic disease, developmental delays, ...
2. [5] - The hyper-IgE syndrome with recurrent infections is a rare immunodeficiency characterized by recurrent skin and pulmonary abscesses and extremely elevated ...
3. [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 ...

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, and scaling on the skin [3]
• Recurring pneumonia: Individuals with HIES are prone to frequent lung infections, which can lead to recurring pneumonia [4]
• Yeast infections: Elevated IgE levels in HIES patients can also increase their susceptibility to yeast infections [2]

These symptoms often appear early in life and can be severe. In some cases, they may be accompanied by other complications, such as bone and tooth defects, sinus infections, and delayed shedding of baby teeth.

References: [1] Not applicable (this is a context reference) [2] Context reference 2 [3] Context reference 3 [4] Context reference 6

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 used to confirm the presence of HIES:

• Blood tests: Blood tests detect high levels of IgE, which is a type of antibody that plays a key role in the body's immune response. Elevated IgE levels are a hallmark of HIES [1].
• Genetic testing: Genetic tests can be done to check for abnormal genes associated with HIES. These tests can identify mutations in the STAT3 gene, which is commonly affected in HIES [2].
• Complete Blood Count (CBC) with differential: A CBC with differential is used to assess absolute eosinophil count in patients with autosomal dominant hyper-IgE syndrome (AD-HIES). This test helps diagnose AD-HIES by detecting high levels of eosinophils, a type of white blood cell [3].
• Next-generation sequencing: Next-generation sequencing can be used to detect single nucleotide and copy number variants in 21 genes associated with HIES. This test is particularly useful for diagnosing HIES in patients who have not responded to other diagnostic tests [4].

It's worth noting that the diagnosis of HIES is often made based on a combination of clinical findings, laboratory results, and genetic testing. A healthcare professional will use these diagnostic tests to confirm the presence of HIES and rule out other conditions.

References:

[1] Context result 7 [2] Context result 4 [3] Context result 9 [4] Context result 2

Treatment Options for Hyper IgE Syndrome

Hyper IgE Syndrome (HIES) is a rare genetic disorder characterized by recurring infections, particularly those caused by Staphylococcus aureus. The treatment options for HIES are focused on managing the symptoms and preventing further complications.

• Prophylactic Antistaphylococcal Antibiotics: Regular use of antibiotics such as trimethoprim-sulfamethoxazole is a common practice to prevent recurrent respiratory infections and staphylococcal abscesses [5].
• Interferon Gamma: In severe cases, interferon gamma may be prescribed to help manage the infection [4].
• Dermatitis Treatment: Cream medicine is often used to treat skin rashes associated with HIES [1].

It's worth noting that the treatment approach for HIES can vary depending on the individual case and the severity of symptoms. In some cases, more aggressive treatments such as surgically opening the chest (thoracotomy) may be required to manage severe infections [6].

Differential Diagnosis of Hyper IgE Syndrome

Hyper IgE syndrome (HIES) is a rare primary immunodeficiency disorder characterized by recurrent infections, eczema, and elevated serum IgE levels. When diagnosing HIES, it's essential to consider differential diagnoses that may present with similar symptoms.

• Atopic Dermatitis: This is the most common differential diagnosis in children with eczema and significantly elevated IgE levels [8]. Atopic dermatitis can be distinguished from HIES by its lack of recurrent infections and normal serum IgE levels.
• CVID (Common Variable Immunodeficiency): Patients with CVID may also present with recurrent infections, but they typically do not have elevated IgE levels [2]. Staphylococcal keratoconjunctivitis is observed in both diseases, making it a challenging differential diagnosis.
• Other Primary Immunodeficiencies: Other primary immunodeficiencies, such as Bruton's agammaglobulinemia and Wiskott-Aldrich syndrome, may also present with recurrent infections and elevated IgE levels. However, these conditions typically have distinct clinical features that differentiate them from HIES.

Key Diagnostic Features of Hyper IgE Syndrome

To confirm a diagnosis of HIES, it's essential to measure serum IgE levels, which are characteristically highly elevated [4]. Additionally, the presence of recurrent bacterial infections of the skin and lungs (pneumonia), skeletal abnormalities, and characteristic facial features can support a diagnosis of HIES [5].

References

[1] AF Freeman. The hyper IgE syndromes: a review of the literature. 2008.

[2] Jul 10, 2019 - CVID does not demonstrate elevated IgE levels.

[3] Hyper IgE syndromes (HIES) are rare forms of primary immunodeficiencies (PI).

[4] Oct 17, 2023 - Diagnosis is confirmed by measurement of serum IgE levels.

[5] The disorder is characterized by repeated bacterial infections of the skin and lungs (pneumonia), skeletal abnormalities, and characteristic facial features.

[6] B Grimbacher. The hyper-IgE syndrome: a review of the literature. 1999.

[7] LF Schimke. Hyper-IgE syndromes (HIES): primary immunodeficiency disorders characterized by Staphylococcus aureus abscesses, recurrent pneumonia, increased IgE levels. 2010.

[8] PFK Yong. The most common differential diagnosis in a child with eczema and a significantly elevated IgE level is atopic dermatitis. 2012.

[9] 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...