Autosomal recessive hyper-IgE syndrome
| Classification according to ICD-10 | |
|---|---|
| D82.4 | Hyperimmunoglobulin E [IgE] syndrome |
| ICD-10 online (WHO version 2019) | |
The autosomal recessive hyper IgE syndrome is a very rare primary immunodeficiency with clinical similarity to the autosomal dominant HIES syndrome (Job syndrome), but with additional persistent viral infections of the skin.
Synonyms are:
- Autosomal recessive HIES
- Hyperimmunoglobulinemia E syndrome type 2
distribution
The frequency is given as less than 1 in 1,000,000, inheritance is autosomal - recessive , more common in blood relationships . So far over 130 families have been reported.
root cause
Often there are homozygous mutations in the DOCK8 gene at the 9p24.3 gene location.
Clinical manifestations
There is an extreme hypereosinophilia, frequent widespread and long-lasting viral infections.
In addition, involvement of the brain, autoimmune diseases and vascular diseases can occur.
Severe allergies are found in over half of those affected and asthma in 30% . There is an increased risk of malignancy.
Differential diagnosis
A distinction must be made between Job's syndrome and other diseases with increased serum IgE, such as Wiskott-Aldrich syndrome , IPEX syndrome , Netherton syndrome , severe combined immunodeficiency and HIV infection .
therapy
Treatment is to prevent and manage infections.
The disease can by transplantation of hematopoietic stem cells to be healed.
Prospect of healing
Sepsis , central nervous system infections, and early onset malignancies result in early mortality.
