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A Boy with Relentless Pruritus: Job's Syndrome
Kamran Khan1, Susan E Wozniak1, Anna Lucia Giannone2
1Department of General Surgery, Sinai Hospital of Baltimore, Baltimore, MD, USA.
Insights
Job's syndrome, a rare immunodeficiency, can mimic atopic dermatitis. Early genetic testing for STAT3 mutations is crucial for accurate diagnosis and management of this severe skin condition.
Area of Science:
- Immunology
- Genetics
- Dermatology
Background:
- Job's syndrome (hyperimmunoglobulin E syndrome) is an extremely rare primary immunodeficiency.
- Characterized by a high incidence of skin and lung infections, eczema, and elevated serum IgE levels.
- This manuscript focuses on the diagnosis and management of Job's syndrome.
Observation:
- A 6-year-old boy presented with severe, persistent pruritus and eczematous skin lesions since infancy.
- Initial diagnosis of atopic dermatitis was made, but conservative management failed.
- Serum IgE levels rose exponentially, reaching 57,400 IU/ml by age 7.
Findings:
- Molecular genetic testing revealed a dominant-negative mutation in the Signal Transducer and Activator of Transcription (STAT3) gene.
- This confirmed the diagnosis of Job's syndrome.
- Treatment involved meticulous skin care, prophylactic antibiotics, immunomodulators, and psychotherapy.
Implications:
- Job's syndrome is often misdiagnosed as atopic dermatitis due to overlapping symptoms.
- Genetic testing for STAT3 mutations is recommended for refractory atopic dermatitis cases.
- Psychotherapy is vital for managing the psychological distress associated with chronic pruritus in children.
Background:
Job's syndrome (hyper IgE syndrome) is a very rare primary immunodeficiency disease that has an annual approximate incidence of less than 1/1,000,000. This manuscript aims to provide education regarding diagnosis and management strategies of this syndrome worldwide.
Case Report:
A 6-year-old boy was seen at the clinic secondary to persistent pruritus interfering with sleep. At the age of 2 months, the patient developed diffuse eczematous and desquamating skin lesions. He was subsequently diagnosed with atopic dermatitis and managed conservatively. From 2 months to 7 years of age, intermittent exacerbations of dermatitis persisted despite an aggressive treatment regimen. The serum IgE level increased exponentially over a period of 7 years, with a peak value of 57,400 IU/ml. Molecular genetic testing revealed a dominant negative mutation within the SH2 domain of the Signal Transducer and Activator of Transcription (STAT3) gene. The patient was subsequently diagnosed with Job's syndrome. Management included proper skin care, prophylactic antibiotics, immunomodulating agents, and psychotherapy.
Conclusions:
Job's syndrome can often go unrecognized and masquerade as atopic dermatitis. Therefore, genetic testing for this condition should be obtained in all patients with treatment-refractory AD. Additionally, psychotherapy can be a successful management strategy for the grating psychological impact that can be imposed on children with excessive pruritus.
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