Syn .: Hyper-IgE syndrome (HIES), Job’s syndrome.
Def .: Primary immunodeficiency – from the group of disorders associated with dysfunction of the food cells.
Epid .: A rare genetic disease. Autosomal dominant or recessive inheritance.
Etiol .: Mutation of the STAT3 gene (chromosome 17q21) – defect of the cytokine response of Th lymphocytes 1. Disturbance of the signal delivered by IL-15 to the eating cells.
Clinical: In 75% of all patients and 85% over 8 years of age: recurrent abscesses of the skin, subcutaneous tissue or organs (including lung cysts), recurrent, often serious infections of the respiratory tract, including sinuses and bronchi – most often caused by by S. aureus or Aspergillus sp. IgE. There are also eczema-like lesions entangled with bacterial superinfection, itching and healing poorly. Characteristic phenotypic features: thick facial features, rough skin, deep-set eyes, protruding forehead, prognathism, thickened: lower lip, nose and auricles. Delayed falling out of milk teeth, excessive joint mobility, scoliosis.
Hist .: Eosinophilic infiltrates in the skin, lungs, spleen and lymph nodes.
DL: High serum IgE concentrations – often over 5000 IU / ml. Eosinophilia.
DI: Disorder of food cell chemotaxis, impaired production of IFNγδ and IL-17.
DR: CGD syndrome, LAD syndrome, atopic dermatitis.
Heal: No causal treatment. Trials of using IVIG, IFNγδ, cyclosporine. Abscesses require surgical interventions. Prevention of infections.
Year: Coexistence of autoimmune diseases, high tendency to neoplastic growths.
DIG. Z-41. Eczema complicated by bacterial superinfection in a child with hyper-IgE syndrome.
Lit.: [1] Grimbacher B., Holland S.M., Gallin J.I. i wsp.: Hyper-IgE syndrome with recurrent infections . an autosomal dominant multisystem disorder. N Engl J Med 1999, 340; 692-702. [2] Grimbacher B., Holland S.M., Puck J.M.: Hyper-IgE syndromes. Immunol Rev 2005, 203; 244-50.
Source: A. Kaszuba, Z. Adamski: “Lexicon of dermatology”; XNUMXst edition, Czelej Publishing House