Discovered a new ultra-rare genetic disease that looks like an allergy – breaking latest news

Considering the symptoms it seems to all intents and purposes a serious form of allergy, in reality a Consortium of international researchers coordinated by the British Columbia Children’s Hospital of Vancouver, and of which the Bambino Ges Pediatric Hospital of Rome is also a part, has demonstrated that it is instead of a genetically based primary immunodeficiency. The results of the study, published in the Journal of Experimental Medicineshow that the mutation of the gene STAT6 which involves alterations in the regulation of the immune system, impacting on a type of cell (T lymphocytes) involved in the allergic response.

The study involved 16 children/adults who presented with similar symptoms and were later found to have the STAT6 gene mutation. The identification of the genetic causes associated with this ultra-rare disease (which currently involves 20 people worldwide) makes it possible to make early diagnoses, to reduce the use of cortisone drugs and to adopt new therapeutic strategies, even personalized ones, for treatment. Sometimes, children with allergic pictures could be affected by “Congenital Immunity Error on a genetic basis”, explains Professor Caterina Cancrini, head of the Clinical and Research Unit of Primary Immunodeficiencies belonging to the Complex Operative Unit of Clinical Immunology and Vaccinology at the Bambino Ges Hospital. The precocity of onset and/or the severity of symptoms of immuno-dysregulation (severe, recurrent and resistant allergic manifestations to conventional therapy) must always suggest a condition of immunodeficiency on a genetic basis, concludes the expert.