A study has discovered a new rare disease which causes persistent inflammation and alters the immune system in very young children.
The investigation, in which hospitals have participated Sant Joan de Déu of Barcelona and Virgen del Rocío of Sevillehas contributed to identifying this genetic alteration in a severely ill child for whose inflammatory affectation there was no explanation.
The patient was first seen at the Infectious Diseases, Rheumatology and Pediatric Immunology Unit of the Virgen del Rocío Hospital, where he underwent a genetic study and initial functional and pathology tests, but “His symptomatology was not consistent with any known immunodeficiency or autoinflammatory disease.”
“We got in touch with Professor Kaan Boztug, of the Austrian Academy of Sciencesto find out if they had references from other patients in the world who could be in the same situation to achieve a minimum of scientific evidence”, pointed out the Chief of Infectious Diseases, Rheumatology and Pediatric Immunology of Virgen del Rocío, Olaf Neth.
He added that “the functional studies and the biological models developed corroborated the suspicion of being before a new entity” and that, later, “the appearance in other foreign centers of new patients from different families with similar clinical pictures and also with mutations in the same gene It has been the piece that has completed the puzzle”.