Beware of other conditions that can mimic hyper-IgE syndrome: DNA sequencing of DOCK8 is the diagnostic test to confirm DOCK8 deficiency. Th17 cells are reduced, but not to the extent that is seen in STAT3 deficiency. Cutaneous viral infections increase in frequency and severity with age. The somatic features are unreliable and less pronounced, if present at all. Patients with DOCK8 deficiency have eczema, allergies, IgE elevation and recurrent infections. DNA sequencing of STAT3 is the diagnostic test to confirm Job’s syndrome. By late adolescence, there is usually no question about the diagnosis, as patients have had events in each of the above categories. Some of the features of the full-blown Job’s syndrome are developmental, such as the characteristic facies, the failure of primary teeth to deciduate and craniosynostosis therefore, it can be hard to make a firm clinical diagnosis in a young child. Scoliosis, pathologic fractures, and lung cysts are seen in more than half of cases at some point in their lives. T cells producing IL-17 (Th17 cells) are characteristically very low in the circulation in Job’s syndrome. Onychomycosis and mucocutaneous candidiasis are also common. Eczema, recurrent boils, IgE elevation, and pneumonia are classic findings. Patients with proven STAT3 mutated Job’s syndrome almost always have both immune and somatic signs. Are you sure your patient has hyper-IgE syndrome? What should you expect to find? Allergies tend to be to a broad array of items, including foods. The risk of malignancy is higher in DOCK8 deficiency than STAT3 deficiency. aureus, as well as severe recurrent cutaneous infections with herpes simplex viruses, human papilloma viruses, and molluscum contagiosum. DOCK8 deficient patients typically have early onset of severe eczema with superinfection with S. These patients also have elevated IgE and recurrent infections, but the somatic aspects (lung cysts, scoliosis, fractures) are typically less severe or absent. Cutaneous viral infections are not part of STAT3 deficiency.ĭOCK8 deficiency is caused by complete deficiency of the protein DOCK8, encoded by the gene of the same name. Despite the elevated IgE these patients have very little in the way of abnormal allergic phenomena. There are also complications in other organ systems: coronary artery aneurysms which occasionally cause myocardial infarctions, demyelinated plaques in the brain, craniosynostosis and failure of primary teeth to deciduate.
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