Printable factfile
Patient with TYK2 deficiency had a history of atopic dermatitis, recurrent infections, such as otitis media, sinusitis, pneumonias, skin abcesses, BCG lymphadenitis, viral and fungal infections, oral candidiasis. The immunological workup revealed mild eosinophilia, high serum, IgE (2100 IU/ml) with normal Ig classes and subclasses.
Diagnosis
Diagnostic recommendations
Additional Information
- Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity, Immunity 2006(5): 745-55
- 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:
Genetic:
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