Snapshot A 3-year-old boy with a history of multiple infections presents with an intensely itchy rash. His skin is covered with an erythematous, crusty, scaly rash. Excoriations are seen where he scratched his skin. His face has thickened skin (coarse facies) and a wide-set nose. He has several abscesses without any pus formation over his arms. Labs come back with IgE levels of 3000 IU/mL. Introduction Primary immunodeficiency syndrome from defect in neutrophil chemotaxis Also known as Job syndrome Also known as hyperimmunoglobulinemia E syndrome (HIES) Genetics autosomal dominant STAT3 mutation Pathogenesis defect in JAK-STAT pathway impaired Th17 cells → impaired recruitment of neutrophils → cells inadequately make IFN-γ characterized by FATED coarse Facies cold staphylococcal Abscesses retained primary Teeth ↑ IgE Dermatologic problems Presentation Symptoms recurrent colds Physical exam eczematous rash similar to atopic dermatitis papulopustular, crusted rash especially affects the face intensely pruritic skin infections noninflamed abscesses on body cool to touch retained primary teeth two rows of teeth coarse facies Evaluation ↑ IgE ↑ eosinophils ↓ IFN-γ Differential Atopic dermatitis Wiskott-Aldrich syndrome SCID Treatment Skin care for eczematoid dermatitis Prophylactic trimethoprim-sulfamethoxazole to prevent infections Antibiotics to treat infections Prognosis, Prevention, and Complications Prognosis leading cause of death is infection average age of death 29 years Complications ↑ risk of lymphoma
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