Disease
Job Syndrome (Hyper-IgE Syndrome)
Overview of Job Syndrome (Hyper-IgE Syndrome)
Job Syndrome medically known as Hyper-IgE Syndrome (HIES), it is a rare primary immunodeficiency disorder characterised by extremely high levels of immunoglobulin E (IgE), recurring infections, eczema-like skin rashes and skeletal or connective tissue abnormalities. Named after the biblical figure Job, who was plagued with painful sores, this condition affects the immune system’s ability to respond effectively to infections. It can be inherited or sporadic, and early diagnosis is key for managing the complications effectively.
Types of Job Syndrome
- Autosomal Dominant Hyper-IgE Syndrome (AD-HIES)
- Caused by STAT3 gene mutations; most common type; includes skeletal and connective tissue symptoms.
- Autosomal Recessive Hyper-IgE Syndrome (AR-HIES)
- Caused by DOCK8 gene deficiency; more severe viral infections and neurologic issues observed.
- PHOX2B-associated Hyper-IgE Syndrome
- Rare and less understood; associated with autonomic nervous system abnormalities.
Symptoms of Hyper-IgE Syndrome
- Recurrent staphylococcal skin abscesses
- Pneumonia leading to lung cysts or pneumatocele
- Severe eczema-like rash starting in infancy
- Frequent sinus and ear infections
- Elevated IgE levels in blood tests
- Delayed shedding of baby teeth
- Joint hyperextensibility and scoliosis
- Fractures with minor trauma
- Facial features like a broad nasal bridge or deep-set eyes
Causes of Job Syndrome (Hyper-IgE Syndrome)
- Caused by genetic mutations (mainly in STAT3 or DOCK8).
- Autosomal dominant or recessive inheritance.
- Disruption in immune system signaling pathways.
- Inherited from one or both parents or occurs as a new mutation.
Complications in Job Syndrome (Hyper-IgE Syndrome)
- Lung infections leading to chronic damage or abscesses.
- Fungal infections (e.g., candidiasis).
- Sepsis due to weak immune defense.
- Allergic reactions and anaphylaxis.
- Higher risk of lymphomas and other malignancies in some forms.
- Growth delays or developmental anomalies in children.
Risk Factors of Job Syndrome (Hyper-IgE Syndrome)
- Family history of immunodeficiency syndromes.
- Genetic predisposition (STAT3 or DOCK8 mutations).
- Consanguineous parents in recessive types.
- Presence of recurrent infections and eczema in early childhood.
Preventions of Job Syndrome (Hyper-IgE Syndrome)
- Currently not preventable due to genetic nature.
- Genetic counseling for families with a history.
- Prenatal testing may be considered in some cases.
- Early detection and management help minimize complications.
Diagnosis of Job Syndrome (Hyper-IgE Syndrome)
- High IgE levels on blood tests (often >2000 IU/mL)
- Genetic testing to confirm STAT3 or DOCK8 mutations
- Clinical scoring systems for example NIH score for AD-HIES
- Skin biopsies for rash examination
- Assessment of family history and immune function tests
Treatments of Job Syndrome (Hyper-IgE Syndrome)
- Long-term antibiotics to prevent bacterial infections
- Antifungal medications for recurrent fungal infections
- Immunoglobulin replacement therapy (IVIG or SCIG)
- Surgical drainage for abscesses if needed
- Bone marrow transplant for severe DOCK8 deficiency
- Regular follow-ups with immunologist and dermatologist
Prognosis of Job Syndrome (Hyper-IgE Syndrome)
- Variable life expectancy based on severity and type.
- With early diagnosis and proper care, many live into adulthood.
- Autosomal dominant type tends to have a better prognosis.
- Severe infections or cancers may reduce life span if unmanaged.
Care at MyhealthMydoctor
- Expert coordination for genetic testing and immunology panels.
- Personalised treatment planning including IVIG therapy.
- Multidisciplinary team approach like immunology, dermatology, pulmonology.
- Support with visa, travel, and accommodation for international patients.
- Compassionate care and ongoing medical guidance post-treatment.
Some Important Questions Patients Should Ask Their Doctor During a Consultation
- Why does my child keep getting skin and lung infections?
- What is the role of IgE in this condition?
- Can this disease be completely cured?
- Is genetic testing necessary for diagnosis?
- Are there any dietary restrictions for this condition?
What Patients Expect from Doctors During Consultation?
- Clear explanation of your diagnosis and treatment options.
- Honest discussion about the prognosis and long-term care.
- Supportive answers for emotional and family concerns.
- Guidance on infection prevention and hygiene practices.
- Help with arranging necessary genetic testing or referrals.
- Coordination with other specialties for complete care.