ImmunoDeficiency Resource (IDR)

Diagnosis

Diagnostic recommendations

• ESID/PAGID recommendations by IDR

Additional Information

• Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. Nature 2007(7157): 1058-62
• STAT3 Mutations in the Hyper-IgE Syndrome, N Engl J Med 2007(357)
• Hyperimmunoglobulinemia E (Job) Syndrome, eMedicine
• Job Syndrome, eMedicine
• Hyperimmunoglobulinemia E Syndrome, MedlinePlus, U.S. National Library of Medicine, NIH
• Health Library Job Syndrome, Northwestern Memorial Hospital
• Hyperimmunoglobulinemia E, The Doctor's doctor
• Job Syndrome, National Organisation for Rare Disorders

Diagnostic laboratories

Clinical:

• Job syndrome, ORPHANET
• Job Syndrome, eMedicine
• Hyperimmunoglobulinemia E, eMedicine

Genetic:

• STAT3, IDdiagnostics

Therapeutic options

• Intravenous immunoglobulins should be used for the antibody deficiency. Antibiotic therapy (10-14 days) together with physiotherapy and postural drainage in case of lung damage. Ciprofloxacin is a valuable antibiotic but is not licensed for small children. Oral poliovaccine should not be given because there is risk of paralytic disease.
• Hyperimmunoglobulinemia E (Job) Syndrome, eMedicine
• Job Syndrome, eMedicine

Research programs, clinical trials

• European Initiative for Primary Immunodeficiencies.