All of the following are true regarding Hyper IgE syndrome, except:
Correct Answer: Low serum IgG, IgA and IgM levels
Description: Hyper IgE syndrome / Job's syndrome Autosomal dominant inhibitory mutations in signal transducer and activator of transcription 3 (STAT3) lead to inhibition of normal STAT signaling Patients have characteristic facies:- Broad nose Kyphoscoliosis Osteoporosis Eczema Abnormal chemotaxis is a variable feature Recurrent sinopulmonary and cutaneous infections ("cold abscesses") Serum IgE level is significantly elevated whereas IgM, IgG and IgA level are normal In vivo assessment of inflammation is possible with a Rebuck skin window test or an in vivo skin blister assay, which measures the ability of leukocytes and inflammatory mediators to accumulate locally in the skin. In vitro tests of phagocyte aggregation, adherence, chemotaxis, phagocytosis, degranulation, and microbicidal activity (for S. aureus) are used for laboratory diagnosis
Category:
Pathology
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