National Awards “Science and Research”
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Job Syndrome – Autosomal recessive type
HiperIgE syndrome or Job syndrome is a rare primary immune deficiency with autosomal dominant or recessive transmission manifested by extreme hyperimmunoglobulinemia E with an increased incidence of infections and connective tissue abnormalities. The authors present one fatal case with severe symptoms since infancy, aggravated by chronic anemia and malnutrition, and exceed corticotherapy and antibiotherapy, included as an autosomal recessive type.
Key words: HiperIgE, infections, allergy