Hyperimmunoglobulin E syndrome
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Incidence of Hyperimmunoglobulin E syndrome (HIGE) is 1/100000 to 1/200000. This syndrome divided in two groups including; autosomal dominant with mutation in signal transducer and activator of transcription-3 (STAT 3) (chromosome 17, MIM=147060) type one and autosomal recessive with mutation in Dedicator of Cytokinesis 8 (Dock-8) (chromosome 9, MIM=243700) (type2) (1).
Mutations of autosomal recessive HIES-like disorders following;
1. Tyrosine kinase 2 gene (TYK2), encoded on chromosome 19p13.2 (MIM #611521).
2. Phosphoglucomutase 3 gene (PGM3), which encodes an enzyme in the biosynthesis of N-glucans (MIM #615816) (2).
About skin manifestations of HIGE syndrome, we reported a boy (16-year-old) of HIGE presented with skin psoriasis disease from one year ago. His history was recurrent infections including otitis media, pneumonia, diarrhea and skin infection. Histologic finding was hyperkeratosis; parakeratosis of acanthotic epidermis with regular elongation of rete ridges.
This is the first report of association or relation between hyperactive IgE immunoglobulinemia and psoriasis disorder.
We reported another case of HIGE whit recurrent infections and pneumatocle in the left and right of lung. Because there were multiple large pneumaocles, there was no possible surgery.
The role of Bone Marrow Transplant (BMT) has different results. Hematopoietic stem cell transplantation (HSCT) was done for different kinds of HIES, but information and experience about the long term results of this therapy is little (1).
Recently studies suggest that HSCT can improve immunologic parameters and reduce frequency and severity of infections although Nonhematologic organ failers are not corrected (5).
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