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hyper IgE recurrent infection syndrome 1
Description
Hyper IgE Recurrent Infection Syndrome (HIES) Description
Hyper IgE Recurrent Infection Syndrome, also known as Job's syndrome, is a rare immunodeficiency disorder characterized by recurring skin and pulmonary abscesses, extremely elevated levels of IgE in serum, and other clinical manifestations.
- Recurring Skin Abscesses: Affected individuals tend to have frequent bouts of skin abscesses, often caused by Staphylococcus aureus.
- Pulmonary Abscesses: Recurrent pneumonia is a common feature of HIES, with affected individuals experiencing repeated episodes of lung infections.
- Elevated IgE Levels: Extremely high levels of IgE in serum are a hallmark of this condition, often exceeding 2000 IU/ml.
- Facial and Skeletal Features: Characteristic facial features include a prominent forehead, broad nasal bridge, and facial asymmetry. Skeletal abnormalities may also be present.
Genetic Basis
HIES is an autosomal dominant disorder, meaning that a single copy of the mutated gene is sufficient to cause the condition. The genetic basis of HIES is poorly understood, but it is believed to involve mutations in genes such as STAT3 and DOCK8.
Clinical Features
The clinical features of HIES include:
- Recurring skin abscesses
- Pulmonary abscesses (recurrent pneumonia)
- Elevated IgE levels
- Characteristic facial features (prominent forehead, broad nasal bridge, facial asymmetry)
- Skeletal abnormalities
References
- Davis et al. (1966) [1]
- Buckley et al. (1972) [not cited but implied in context 1]
- Miller et al. (1999) [12]
Additional Characteristics
- Skeletal abnormalities
- Elevated IgE levels
- Recurring skin abscesses
- Pulmonary abscesses (recurrent pneumonia)
- Characteristic facial features (prominent forehead, broad nasal bridge, facial asymmetry)
Signs and Symptoms
Recurring Infections and Skin Problems
Hyper-IgE recurrent infection syndrome, also known as Job's syndrome or Hyper-IgE syndrome, is characterized by recurring infections and skin problems.
- Frequent Infections: Patients with this condition often experience frequent infections, including pneumonia and sinusitis. These infections can be severe and may require aggressive treatment.
- Skin Abscesses: One of the hallmark signs of Hyper-IgE syndrome is the presence of recurrent skin abscesses, which are painful and pus-filled bumps on the skin.
- Severe Eczema: Many patients with this condition also experience severe eczema, a type of skin rash that can be itchy and uncomfortable.
- Pulmonary Pneumatoceles: In some cases, Hyper-IgE syndrome can cause air-filled cysts to develop in the lungs, which can lead to respiratory problems.
These symptoms often begin in childhood and can persist into adulthood. Early diagnosis and treatment are essential to manage this condition effectively.
References:
- [1] Symptoms typically include recurrent staphylococcal abscesses of the skin, lungs, joints, and viscera. Patients may also have sinopulmonary infections, pulmonary pneumatoceles, and a severe pruritic eosinophilic dermatitis.
- [3] Hyper-IgE syndrome typically causes recurrent staphylococcal abscesses of the skin, lungs, joints, and viscera.
- [11] Symptoms and Signs of Hyper-IgE Syndrome. Hyper-IgE syndrome typically causes recurrent staphylococcal abscesses of the skin, lungs, joints, and viscera.
- [13] Common features are severe eczema, increased susceptibility to infections and markedly raised levels of immunoglobulin E (IgE).
Additional Symptoms
- Frequent Infections
- Sinopulmonary infections
- Skin Abscesses
- Severe Eczema
- Pulmonary Pneumatoceles
- Recurrent staphylococcal abscesses of the skin, lungs, joints, and viscera
- Severe pruritic eosinophilic dermatitis
Diagnostic Tests
Diagnostic Tests for Hyper IgE Recurrent Infection Syndrome 1
Hyper IgE recurrent infection syndrome 1 (HIES1) is a rare primary immunodeficiency disorder that requires accurate diagnosis to initiate proper treatment. The following diagnostic tests can aid in confirming the presence of HIES1:
- Blood tests: Elevated levels of IgE are a hallmark of HIES1. Blood tests, such as absolute eosinophil count and serum globulin electrophoresis, can detect high blood IgE levels [9].
- Genetic testing: Genetic tests can be performed to identify mutations in the STAT3 gene, which is associated with HIES1 [10]. This test utilizes next-generation sequencing to detect single nucleotide and copy number variants in 21 genes associated with hyper-IgE syndrome [3].
- Laboratory studies: Blood tests that demonstrate elevated IgE levels can aid in a diagnosis of HIES1. Additionally, laboratory studies may include blood differential and serum globulin electrophoresis to look for high blood IgE level [7].
Early Diagnosis is Key
Early diagnosis and prompt management of infections are essential in improving outcomes for individuals with HIES1. A clinical resource provides information about HIES1, including its clinical features, available genetic tests from US labs, and links to practice guidelines and authoritative resources [10].
Treatment
Treatment Options for Hyper IgE Recurrent Infection Syndrome
Hyper IgE recurrent infection syndrome (HIES) is a rare immunodeficiency characterized by recurrent skin and pulmonary abscesses, and extremely elevated levels of IgE in serum. While there is no cure for HIES, various treatment options are available to manage the symptoms and prevent complications.
Prophylactic Antibiotics
Prophylactic antibiotics are often prescribed to prevent infections in individuals with HIES. This can include medications such as:
- Mupirocin 2% ointment (as mentioned in [6])
- Other topical or oral antibiotics, depending on the severity of the infection
Treatment of Specific Infections
The treatment of specific infections, such as pneumonia, is guided by the etiologic agent. Bronchoscopy may be helpful to recover the pathogen and guide treatment.
Dermatitis Treatment
Dermatitis in HIES patients can be treated with skin hydration, emollient creams, antihistamines, and antibiotics if infections are suspected (as mentioned in [3]).
Bone Marrow Transplantation
In severe cases of HIES, bone marrow transplantation may be considered as a treatment option ([9]).
It's essential to note that the effectiveness of these treatments can vary depending on individual circumstances. A healthcare professional should be consulted for personalized advice and guidance.
References: [3], [6], [9]
Recommended Medications
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
**Differential
Additional Differential Diagnoses
- List of possible causes for the symptoms presented
Additional Information
- rdf-schema#domain
- https://w3id.org/def/predibionto#has_symptom_10227
- owl#annotatedSource
- t423598
- oboInOwl#hasOBONamespace
- disease_ontology
- rdf-schema#comment
- OMIM mapping confirmed by DO. [SN].
- oboInOwl#id
- DOID:3261
- core#notation
- DOID:3261
- oboInOwl#hasDbXref
- UMLS_CUI:C2936739
- IAO_0000115
- A hyper IgE syndrome that has_material_basis_in heterozygous mutation in the STAT3 gene on chromosome 17q21.
- rdf-schema#label
- hyper IgE recurrent infection syndrome 1
- oboInOwl#hasExactSynonym
- Job's syndrome
- rdf-schema#subClassOf
- t423421
- oboInOwl#inSubset
- http://purl.obolibrary.org/obo/doid#NCIthesaurus
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000147
- 22-rdf-syntax-ns#type
- http://www.w3.org/2002/07/owl#Class
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It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.