A new ultra-rare genetic disease has been discovered which to date has about 20 known cases worldwide: it is a congenital immunodeficiency which until now was considered a serious allergy, identified thanks to the international multicenter study coordinated by the British Columbia Children's Hospital in Vancouver, of which the Bambino Gesù Pediatric Hospital is a part for Italy. The work was published in the Journal of Experimental Medicine.
The identification of the disease and the underlying genetic cause has already enabled the successful adoption of new therapeutic strategies.
The study involved 16 children/young people with a common clinical picture of severe allergy, recurrent infections, atopic dermatitis and asthma, identifying mutations in the STAT6 gene, which plays a crucial role in the formation of a cell type of the immune system , T lymphocytes, mainly involved in the allergic response.
Although the main symptoms can mimic a condition of severe allergy.
The anomaly of this gene leads to alterations in the regulation of the immune system.
(HANDLE).