Thanks to an international team of researchers who involved, for Italy, the Child Jesus of Rome, one was discovered new ultra-rare genetic disease which to date has only about 20 cases worldwide and which until now had been mistaken for one severe allergic form. Instead, it is a congenital immunodeficiency identified for the first time thanks to the international multicenter study coordinated by the British Columbia Children’s Hospital of Vancouver (Canada), of which the Bambino Gesù Pediatric Hospital is a part for Italy. aimed at this disease, also discovering the underlying genetic cause, was published in the Journal of Experimental Medicine.
The discovery of the new ultra-rare disease
The creation of the Consortium was instrumental in bringing together and sharing data from a group of patients with similar clinical characteristics associated with the same genetic defect. Without this borderless union of forces, such a rare disease would remain hidden by the difficulty of finding an appreciable number of patients. The identification of the disease and its specific genetic causes has already made it possible to successfully adopt new therapeutic strategies, explains Caterina Cancrini, head of the Clinical and Research Unit of Primary Immunodeficiencies belonging to the Complex Operative Unit of Clinical Immunology and Vaccinology of the Hospital.
What the study says
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. Despite the main symptoms may mimic a condition of severe allergy. The anomaly of this gene leads to alterations in the regulation of the immune system. Specifically, Bambino Gesù, the only Italian center to have participated in the study, was involved in the monitoring of one of the 16 patients and in the studies that led to clarifying the underlying mechanism. The patient followed from the first years of life was able to receive a definitive diagnosis in adulthood.