THURSDAY, Sept. 20 (HealthDay News) -- Mutations in a signaling protein that regulates interleukin-6 have been found in patients with inherited and sporadic cases of hyper-IgE syndrome, a rare immunodeficiency syndrome characterized by dermatitis, boils, infections and bone abnormalities, according to a report published online Sept. 19 in the New England Journal of Medicine.
Steven M. Holland, M.D., from the National Institutes of Health in Bethesda, Md., and colleagues examined cytokine secretion in leukocytes from patients with hyper-IgE syndrome, leading them to sequence the STAT3 gene.
The researchers found that stimulated mononuclear cells from these patients produced significantly higher levels of tumor necrosis factor-alpha as well as significantly lower levels of monocyte chemoattractant protein 1 in response to interleukin-6. Noting that STAT3 is a downstream mediator of interleukin-6, they found missense mutations and single-codon in-frame deletions in the STAT3 gene in 50 familial and sporadic cases of the disease.
"Mutations in STAT3 underlie sporadic and dominant forms of the hyper-IgE syndrome, an immunodeficiency syndrome involving increased innate immune response, recurrent infections, and complex somatic features," Holland and colleagues conclude.
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