2023-07-18 12:23:50
Updated Tuesday, July 18, 2023 – 12:23
At the moment, the investigation continues and there is no clear therapeutic option.
Researcher with the patient’s sampleHospital Sant Joan de DeuSalud A new drug shows slowing of the symptoms of Alzheimer’s disease in its initial phase
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 Du in Barcelona and Virgen del Roco in Sevillehas contributed to identifying this genetic alteration in a severely ill child for whose inflammatory involvement there was no explanation.
The patient was first seen at the Infectious Diseases, Rheumatology and Pediatric Immunology Unit of the Virgen del Roco Hospital, where he underwent a genetic study and initial functional and pathology tests, but “Her 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 Infectology, Rheumatology and Pediatric Immunology of Virgen del Roco, Olaf Neth.
He added that “functional studies and 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”.
“It seemed clear that we were facing a clinical situation not described up to now,” said the doctor on the Pediatric Rheumatologist and researcher at the Sant Joan de Du Research Institute (IRSJD) Joan Calzadawho has assured that international collaboration has been key to advancing in the investigation.
DOCK11 gene mutation
The study, published in the New England Journal of Medicine, has identified that this rare disease is related to a mutation of the gen DOCK11 which produces an alteration in the formation of the cellular skeleton, the protein framework responsible for giving cells shape and the ability to move.
This alteration leads to a disorder in the regulation of the immune system which is expressed from very early ages in the form of persistent inflammation and alteration in the formation of blood cells, as well as in the regulation of the immune system.
The details of DOCK11’s function are “not yet fully understood,” but blood-forming or hematopoietic stem cell transplantation and gene therapy could be therapeutic options for the new diseasealthough “they still have to be explored”, according to the head of the Pediatric Rheumatology Service of Sant Joan de Du, Jordi Antn.
The study was led by the St. Anna Children’s Cancer Research Institute, the Research Center for Molecular Medicine of the Austrian Academy of Sciences and the Medical University of Vienna.
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