hyper IgE recurrent infection syndrome 2

Hyper IgE Recurrent Infection Syndrome (HIES)

Hyper IgE Recurrent Infection Syndrome, also known as Job's syndrome, is a rare immunodeficiency characterized by:

• Recurrent skin and pulmonary abscesses: People with HIES often experience repeated infections of the skin and lungs, which can lead to serious complications.
• Extremely elevated levels of IgE in serum: Individuals with HIES have extremely high levels of Immunoglobulin E (IgE) in their blood, which is a type of antibody that plays a key role in the immune system.
• Associated facial features: Some people with HIES may exhibit characteristic facial features, such as eczema or other skin abnormalities.

This condition is often inherited and can be caused by genetic mutations. Early diagnosis and prompt management of infections are essential to improve outcomes for individuals with HIES.

References:

• [2] The hyper-IgE syndrome with recurrent infections is a rare immunodeficiency characterized by recurrent skin and pulmonary abscesses and extremely elevated levels of IgE in serum.
• [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 single gene defects characterized by eczema, recurrent infections, combined immunodeficiency and elevated serum IgE.

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 repeated lung infections, which can lead to pneumonia [5]
• Yeast infections: Elevated IgE levels in HIES patients can also increase their susceptibility to yeast infections [2]
• Elevated IgE levels: A hallmark of HIES, elevated serum IgE levels are a key diagnostic criterion for this condition [4]

Additionally, some individuals with HIES may experience other symptoms, such as:

• Recurring sinus infections
• Bone and tooth defects, including fractures and delayed loss of baby teeth
• Skin abscesses and infection

These signs and symptoms can vary in severity and frequency among affected individuals.

Diagnostic Tests for Hyper-IgE Recurrent Infection Syndrome 2 (HIES2)

Hyper-IgE recurrent infection syndrome 2 (HIES2) is an autosomal recessive immunologic disorder characterized by recurrent staphylococcal infections, eczema, and elevated levels of IgE in the blood. The diagnosis of HIES2 can be made based on a combination of clinical findings and laboratory tests.

Laboratory Tests

• Blood tests that demonstrate elevated levels of IgE in the blood are a key diagnostic criterion for HIES2 [5].
• Genetic testing can be done to check for the abnormal genes associated with HIES2. This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 21 genes associated with hyper-IgE syndromes [3].

Other Diagnostic Tests

• Laboratory studies that may aid in a diagnosis include blood tests that demonstrate elevated levels of IgE in the blood and elevated levels of certain white blood cells [9].
• Imaging studies such as MRI, CT scans, and X-rays may be ordered to evaluate for complications or comorbidities associated with HIES2.

Genetic Testing Information

• Genetic testing information is available through various registries, including the National Institutes of Health's (NIH) Genetic Testing Registry [7].
• Quest Diagnostics Incorporated offers genetic testing services, including CLIA-certified laboratories that provide HIPAA-covered services [10].

It's essential to consult with a healthcare professional for an accurate diagnosis and treatment plan. They will interpret the results of these tests and provide guidance on further management.

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 syndromes. [5] Oct 17, 2023 — Diagnosis of hyper-IgE syndrome is suspected based on symptoms and confirmed by serum IgE levels > 2000 IU/mL (> 4800 mcg/L). Genetic testing can be done to check for the abnormal genes. [7] Aug 1, 2019 — Genetic Testing Information. Genetic Testing Registry: Hyper-IgE recurrent infection syndrome 1, autosomal dominant From the National Institutes of Health's (NIH) Genetic Testing Registry. [9] Laboratory studies that may aid in a diagnosis include blood tests that demonstrate elevated levels of IgE in the blood and elevated levels of certain white blood cells.

Treatment Options for Hyper-IgE Recurrent Infection Syndrome

Hyper-IgE Recurrent Infection Syndrome (HIES), also known as Job's syndrome, is a rare genetic disorder characterized by recurring skin and respiratory infections. While there is no cure for HIES, various treatment options are available to manage the symptoms and prevent infections.

Prophylactic Antibiotics

• Trimethoprim-sulfamethoxazole: This antibiotic combination is commonly used as prophylaxis against recurrent respiratory infections and staphylococcal abscesses [4].
• Long-term prophylactic antibiotics: Traditionally, long-term use of antibiotics has been a mainstay in the treatment of HIES to prevent recurring infections [2].

Biologics

• Dupilumab: A recent case series found that dupilumab led to improvements in skin condition and a reduction in bacterial infections for pediatric patients with HIES [5].
• Omalizumab: This biologic has been used in combination with standard anti-infection therapy to manage symptoms of HIES [6].

Other Treatments

• Interferon gamma: In severe cases, interferon gamma may be prescribed to help manage infections [3].
• Supportive care: Dermatitis and other skin manifestations can be managed with supportive care, such as topical creams and ointments.

It's essential to note that each individual with HIES may require a tailored treatment approach based on their specific symptoms and medical history. Consultation with a healthcare professional is necessary to determine the best course of treatment.

References: [1] Not applicable [2] CJ Su (2021) [2] [3] Oct 17, 2023 [3] [4] [4] [5] Oct 18, 2024 [5] [6] by J Lan · 2022 · Cited by 7 — [6]

The differential diagnosis for Hyper-IgE Recurrent Infection Syndrome (HIES) includes several conditions that can present with similar symptoms, such as:

• Atopic dermatitis: This is the most common differential diagnosis in children with eczema and significantly elevated IgE levels [6][10]. Atopic dermatitis is a chronic skin condition characterized by dry, itchy, and scaly skin.
• Cystic fibrosis: This genetic disorder can cause recurrent respiratory infections, which may be similar to those seen in HIES [9].
• Chronic granulomatous disease (CGD): CGD is a rare genetic disorder that affects the immune system's ability to fight off certain types of bacteria and fungi, leading to recurring infections.
• Severe atopic dermatitis: This condition can present with similar skin symptoms to HIES, but without the elevated IgE levels [9].
• HIV infection: In some cases, HIV infection can cause recurrent infections that may be mistaken for HIES.

It's essential to note that a definitive diagnosis of HIES requires measurement of serum IgE levels and other diagnostic tests. Treatment for HIES typically involves supportive measures, such as lifelong prophylactic antibiotics, and may also include immunoglobulin replacement therapy [4].