02. Autoinflammatory syndromes

TNF receptor associated periodic syndrome Other names Familial Hibernian fever, Tumor necrosis factor receptor associated periodic syndrome Symptoms Vertigo, pericarditis[1] Causes Mutations in the TNFRSF1A gene[2] Diagnostic method Blood test, Genetic test[3][4] Treatment Corticosteroids, NSAIDS [1] TNF receptor associated periodic syndrome (TRAPS[5]) is a periodic fever syndrome associated with mutations in a receptor for the molecule tumor necrosis factor (TNF) that is inheritable… read more »

Muckle–Wells syndrome Other names Urticaria-deafness-amyloidosis syndrome (UDA),[1] This condition is inherited in an autosomal dominant manner Specialty Dermatology  Muckle–Wells syndrome (MWS), is a rare autosomal dominant disease which causes sensorineural deafness and recurrent hives, and can lead to amyloidosis. Individuals with MWS often have episodic fever, chills, and joint pain. As a result, MWS is considered a type of periodic fever syndrome. MWS is caused by a… read more »

Majeed syndrome is an inherited skin disorder characterized by chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anemia and a neutrophilic dermatosis.[1] It is classified as an autoinflammatory bone disorder. The condition is found in people with two defective copies (autosomal recessive inheritance) of the LPIN2 gene. LPIN2 encodes lipin-2 which is involved in lipid metabolism. The pathogenesis of this mutation with the clinical… read more »

Mevalonate kinase deficiency Other names Mevalonic aciduria[1] and Hyper immunoglobin D syndrome (HIDS) A patient with mevalonate kinase deficiency at the age of 21 months, displaying characteristic craniofacial features Specialty Hematology, neurology, immunology, medical genetics, endocrinology  Mevalonic acid Mevalonate kinase deficiency (MKD), is an autosomal recessive [2] metabolic disorder that disrupts the biosynthesis of cholesterol and isoprenoids.[3] It is characterized by an elevated level of immunoglobin D in the blood. Mevalonate kinase (MVK) is… read more »

Familial Mediterranean fever Familial Mediterranean fever has an autosomal recessive pattern of inheritance Specialty Rheumatology  Familial Mediterranean fever (FMF) is a hereditary inflammatory disorder.[1]:149 FMF is an autoinflammatory disease caused by mutations in Mediterranean fever gene, which encodes a 781–amino acid protein called pyrin.[2] While all ethnic groups are susceptible to FMF, it usually occurs in people of Mediterranean origin—including Sephardic Jews, Mizrahi Jews, Ashkenazi Jews,[3][4] Assyrians, Armenians, Azerbaijanis, Arabs, Kurds, Greeks, Turks and Italians.[5][6][7][8] The disorder has… read more »

Cold urticaria Other names Cold hives Allergic urticaria on leg in the form of hives induced by cold. Specialty Dermatology Causes Exposure to cold stimulus Cold urticaria (essentially meaning cold hives) is a disorder where hives (urticaria) or large red welts form on the skin after exposure to a cold stimulus.[1] The welts are usually itchy and often… read more »

Neonatal-onset multisystem inflammatory disease Other names Chronic infantile neurologic cutaneous and articular syndrome,[1]:149 or CINCA Specialty Neurology, dermatology, rheumatology  Neonatal-onset multisystem inflammatory disease is a rare genetic periodic fever syndrome which causes uncontrolled inflammation in multiple parts of the body starting in the newborn period. Symptoms include skin rashes, severe arthritis, and chronic meningitis leading to neurologic damage. It is one of the cryopyrin-associated periodic syndromes. NOMID can… read more »