Familial cold urticaria (familial cold Autoinflammatory syndrome ...) (Familial cold autoinflammatory syndrome) - Genes NLRP3 and NLRP12 .

Syndrome or familial cold urticaria syndrome "family Autoinflammatory cold", is a disorder that causes episodes of fever, rash and joint pain after exposure to cold temperatures. These episodes usually begin in childhood and occur throughout life. People with this condition usually develop symptoms after exposure to the cold for an hour or more, although some individuals only requires a few minutes of exposure to manifest. Symptoms may appear up to take few hours after exposure to cold, and persist for an average of 12 hours, but sometimes persist for 3 days.

In people with familial cold autoinflammatory syndrome, the most common symptom that occurs during an episode is an itchy rash accompanied by itching or burning. The rash usually starts on the face or extremities and extends through the body. Sometimes, it can cause swelling in the extremities. In addition to the rash, episodes are characterized by fever, chills and joint pain, most often it affects the hands, knees and ankles. In addition, it may appear redness of conjunctivitis, sweating, drowsiness, headache, thirst and nausea.

This process is due to mutations in genes NLRP3 and NLRP12. The NLRP3 gene, also known as CIAS1), located on the long arm of chromosome 1, encodes cryopyrin protein, which is found mainly in blood leukocytes and chondrocytes (cartilage forming cells). Mutations in the gene result NLRP3 overactive cryopyrin protein, which triggers an inappropriate inflammatory response. These mutations are mainly in exon 3 of the gene.

The NLRP12 gene, located on the long arm of chromosome 19 (19q13-42), encoding Monarch-1 protein, which is found in some blood leukocytes. Have identified two mutations in the gene NLRP12 appear to reduce the ability of the Monarch-1 protein to inhibit inflammation, causing episodes of fever and inflammation that occur in this process.

These proteins are involved in the immune system, regulating the inflammation process. Inflammation occurs when the immune system releases cytokines and blood leukocytes come to a focus of injury or disease to combat microbial invaders and facilitate tissue repair. When this has been accomplished, the body inhibits the inflammatory response to prevent damage to its own cells and tissues.

This condition is inherited in an autosomal dominant pattern of an affected parent; whereby a copy of the altered gene in each cell is sufficient to cause the disorder.

Tests in IVAMI: in IVAMI perform detection of mutations associated with syndrome familial cold urticaria, by complete PCR amplification of the exons of NLRP3 and NLRP12 genes, respectively, and subsequent sequencing.

Samples recommended: EDTA blood collected for separation of blood leukocytes, or impregnated sample card with dried blood (IVAMI may mail the card to deposit the blood sample).