SEVILLE, August 29 (Benin News) –
A medical team from the Andalusia Health Service (SAS), specifically from the Virgen del Rocío University Hospital, has discovered a rare cold-induced autoinflammatory syndrome in a family from Seville. This disease, detected in two sisters, is associated with a gene that they share.
As the regional Ministry of Health and Consumers noted in a note, the case was published in the prestigious scientific journal “Clinical Experimental Rheumatology”. The article describes the symptoms they suffer from since childhood, in general, such as hives, fever, bumps or lesions on the skin, and edema in the hands and fingers. The mother had similar complaints to her daughters, but they subsided after the first pregnancy. The father, however, has always been healthy.
A team of specialists in allergology and immunology from Seville Hospital therefore decided to study a panel of 14 genes present in the maternal family, because a brother of the mother was also suspected of suffering from the disease. To do this, they used next-generation genomic sequencing (NGS) techniques and real-time PCR to quantify the presence of certain proteins.
They found a gene present in both sisters and the mother — NLRC4 p.Leu339Pro — that elevates a protein linked to the symptoms that sisters exhibit when they come into contact with the cold. This was confirmed by the ice cube test, after which the reaction is clearly visible.
Les auteurs de cette étude sont les spécialistes en allergologie, Manuel Prados and Marina Labella Álvarez Castaño; et les experts in immunology, Marco Antonio Montes Cano, Raquel Muñoz García, José Manuel Lucena Soto, José Raúl García Lozano and María Francisca González Escribano.
Until now, cold-induced autoinflammatory syndrome was associated with other genes. The contribution of Virgen del Rocío’s team to the international scientific community is to have found a new gene at the origin of the disease, “which opens the door to its diagnosis in new patients”. For now, it is a rare pathology, chronic in nature and well controlled by biological treatments.