Summary about Disease
Job syndrome, also known as Hyperimmunoglobulin E syndrome (HIES), is a rare primary immunodeficiency disorder characterized by a triad of symptoms: recurrent skin abscesses, recurrent pneumonia, and high levels of immunoglobulin E (IgE) in the blood. It is often associated with mutations in genes involved in immune cell signaling and function. The condition affects both children and adults, and while there's no cure, symptoms can be managed.
Symptoms
The primary symptoms of Job syndrome include:
Recurrent Skin Abscesses: Often caused by Staphylococcus aureus, these abscesses may lack typical signs of inflammation (redness, heat, pain).
Recurrent Pneumonia: Lung infections are common and can lead to the formation of pneumatoceles (air-filled cavities in the lungs).
Eczema-like Rash: A chronic, itchy skin rash is often present.
Elevated IgE Levels: Significantly high levels of IgE antibodies in the blood.
Skeletal Abnormalities: Can include scoliosis, bone fractures, and characteristic facial features (broad nasal bridge, prominent forehead, deep-set eyes).
Dental Abnormalities: Delayed shedding of baby teeth, double rows of teeth.
Fungal Infections: Increased susceptibility to fungal infections, particularly Candida (yeast) infections of the mouth (thrush) and skin.
Causes
The most common cause of Job syndrome is a mutation in the STAT3 gene. This gene plays a critical role in immune cell signaling and function. Mutations in STAT3 disrupt the normal development and function of immune cells, leading to the characteristic features of the syndrome. Less commonly, mutations in other genes like *TYK2*, *DOCK8*, *PGM3* and *SPINK5* can also cause HIES. The inheritance pattern is typically autosomal dominant for *STAT3* mutations, meaning only one copy of the mutated gene is needed to cause the condition. Some cases arise from new mutations and aren't inherited.
Medicine Used
Treatment focuses on managing the symptoms and preventing complications. Medications used include:
Antibiotics: To treat bacterial infections (skin abscesses, pneumonia). Often long-term prophylactic antibiotics are prescribed to prevent recurrent infections.
Antifungal Medications: To treat fungal infections (thrush, skin infections).
Antihistamines and Topical Corticosteroids: To manage the eczema-like rash and itching.
Immunoglobulin Therapy (IVIG): In some cases, intravenous immunoglobulin (IVIG) may be used to boost the immune system.
Interferon-gamma: Used in some cases to improve immune function.
Is Communicable
Job syndrome itself is not communicable. It is a genetic disorder caused by gene mutations and is not caused by an infectious agent. The *infections* that individuals with Job syndrome are susceptible to (like bacterial and fungal infections) can be communicable, but the underlying Job syndrome is not.
Precautions
Precautions for individuals with Job syndrome focus on preventing infections and managing symptoms:
Good Hygiene: Frequent handwashing and meticulous skin care are essential to prevent bacterial and fungal infections.
Prompt Treatment of Infections: Seek medical attention immediately at the first sign of infection.
Avoid Exposure to Potential Irritants: Minimize exposure to allergens and irritants that can exacerbate eczema.
Dental Care: Regular dental checkups are important due to the dental abnormalities associated with the syndrome.
Vaccinations: Follow recommended vaccination schedules, but consult with a physician regarding live vaccines, as they may pose a risk to individuals with immune deficiencies.
Avoidance of Crowds: Limiting exposure to large crowds, especially during cold and flu season, can help reduce the risk of infection.
How long does an outbreak last?
There are no outbreaks. The disease is chronic.
How is it diagnosed?
Diagnosis of Job syndrome typically involves a combination of:
Clinical Evaluation: Assessing the characteristic symptoms (recurrent skin abscesses, pneumonia, eczema).
Laboratory Tests:
IgE Levels: Measuring IgE levels in the blood. Markedly elevated levels are a key diagnostic feature.
White Blood Cell Count: May reveal elevated eosinophil counts (eosinophilia).
Immune Function Tests: To assess the function of immune cells.
Genetic Testing: Genetic testing for mutations in the STAT3 gene (and other associated genes) can confirm the diagnosis.
Timeline of Symptoms
The onset and progression of symptoms can vary, but a general timeline is:
Infancy/Early Childhood: Eczema often appears early in life, followed by recurrent skin infections (usually Staphylococcus aureus). Pneumonia may also begin in early childhood.
Childhood: Dental abnormalities (delayed shedding of baby teeth) and skeletal problems (scoliosis) may become apparent.
Adolescence/Adulthood: Continued susceptibility to infections, potential development of lung damage (pneumatoceles). The exact timeline and severity of symptoms can vary greatly between individuals.
Important Considerations
Genetic Counseling: Important for families with a history of Job syndrome to understand the inheritance pattern and recurrence risk.
Multidisciplinary Care: Management requires a team approach involving immunologists, dermatologists, pulmonologists, and other specialists.
Psychological Support: The chronic nature of the disease and the impact on quality of life can necessitate psychological support for both the individual and their family.
Long-Term Monitoring: Regular monitoring is essential to detect and manage complications, such as lung damage.
New Therapies: Research is ongoing to develop new therapies for Job syndrome, including targeted therapies that address the underlying genetic defects.