Spanish researchers discover a new rare disease in a child with unexplained inflammation

A study has discovered a rare new disease that causes persistent inflammation and impairs the immune system in very young children.

The research, in which the Sant Joan de Déu hospital in Barcelona and the Virgen del Rocío hospital in Seville have participated, has helped to identify this genetic alteration in a severely ill child whose inflammatory condition could not be explained.

The patient was first seen in the Infectious Diseases, Rheumatology and Pediatric Immunology unit of the Virgen del Rocío Hospital, where he underwent a genetic study and initial functional and pathological anatomy tests, but “his symptoms did not fit with any immunodeficiency or disease known autoinflammatory”.

“We got in touch with Professor Kaan Boztug, from the Austrian Academy of Sciences, to 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,” said the head of Infectology, Rheumatology and Pediatric Immunology of Virgen del Rocío, Olaf Neth.

“The functional studies and the biological models developed corroborated the suspicion of being before a new entity”, added Olaf Neth. “The appearance with mutations in the same gene of new patients from different families with similar clinical pictures in other foreign centers has been the piece that has completed the puzzle,” he explained.

“It seemed clear that we were facing a clinical situation not previously described,” said Joan Calzada, a doctor from the Pediatric Rheumatology team and researcher at the Sant Joan de Déu Research Institute (IRSJD), who assured that the collaboration International has been key to advancing research.

DOCK11 gene mutation

The study, published in the New England Journal of Medicine, has identified that this rare disease is related to a mutation in the DOCK11 gene that produces an alteration in the formation of the cellular skeleton, the protein framework responsible for conferring the shape and capacity movement to cells.

This alteration leads to a disorder in the regulation of the immune system that is expressed from a very early age 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 disease, although they “have yet to be explored.” according to the head of the Pediatric Rheumatology Service of Sant Joan de Déu, Jordi Antón.

The study was led by the Children's Cancer Research Institute St.. Anna, the Research Center for Molecular Medicine of the Austrian Academy of Sciences and the Medical University of Vienna.