Muckle-Wells syndrome can present with non-classical genetics
Genetic linkage of the Muckle-Wells Syndrome to chromosome 1g44.
New mutations of CIAS1 that are responsible for Muckle-Wells Syndrome and Familial Cold Urticaria: A novel mutation underlies both syndromes.
Muckle-Wells syndrome without mutation in exon 3 of the NLRP3 gene, identified by evidence of excessive monocyte production of functional interleukin 1[sz] and rapid response to anakinra.
Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes.
Skin biopsies revealed lymphocytic infiltrate, leading to a diagnosis of Muckle-Wells syndrome
Publishing their findings in the medical journal Nature Medicine, their discovery of the molecule labelled MCC950 has been found to suppress the NLRP3 inflammasome , which is an activator of the key process in inflammatory diseases, multiple sclerosis (MS), arthritis, motor neuron disease and Muckle-Wells syndrome
For instance, the CIAS1 gene in the pyrin domain is responsible for three different conditions: familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), and neonatal onset multisystem inflammatory disease (NOMID)/chronic infantile neurologic cutaneous articular syndrome (CINCA).
Muckle-Wells syndrome is more severe; patients also may haw sensorineural hearing loss, conjunctivitis, retinitis, arthritis, periodic fevers, abdominal pain, and amyloidosis.