Hyperimmunoglobulin E syndrome

javad ghaffari


Hashemi et al recently published an article with title:  Hyperimmunoglobulin E syndrome: Genetics, immunopathogenesis, clinical findings, and treatment modalities in your journal that it is a good paper. Despite without limitation for searching, there are not a few of related papers in their working.

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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