Muckle–Wells syndrome: manifestations and diagnosis in four generations of a Portuguese family

Azevedo, Soraia; Peixoto, Daniela

doi:10.1007/s12519-020-00358-0

Cited by 1 publication

(1 citation statement)

References 4 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In 1999, Cuisset et al, through a genome-wide study, in three affected families identified a locus at chromosome 1q44 responsible for MWS ( 66 ), while, as mentioned above, in 2011 Hoffman et al, identified NLRP3 pathogenic variants associated with both MWS and FCAS ( 59 ). Although progressive sensorineural hearing loss and the tendency to develop renal amyloidosis, with the increase of serum levels of amyloid A protein (SAA), are considered the most specific findings in MWS, atypical symptoms such as severe abdominal pain, recurrent genital and oral ulcers, and livedo reticularis have also been reported in some families ( 67 , 68 ), together with the widely reported MWS/FCAS ( 69 – 73 ) and MWS/CINCA/NOMID ( 74 – 76 ) overlap features.…”

Section: The Caps Spectrum: Clinical Laboratory and Genetic Findingsmentioning

confidence: 99%

NLRP3 inflammasome and NLRP3-related autoinflammatory diseases: From cryopyrin function to targeted therapies

2022

View full text Add to dashboard Cite

The NLRP3 inflammasome is one of the NOD-like receptor family members with the most functional characterization and acts as a key player in innate immune system, participating in several physiological processes including, among others, the modulation of the immune system response and the coordination of host defences. Activation of the inflammasome is a crucial signaling mechanism that promotes both an acute and a chronic inflammatory response, which can accelerate the production of pro-inflammatory cytokines, mainly Interleukin (IL)-1β and IL-18, leading to an exacerbated inflammatory network. Cryopyrin associated periodic syndrome (CAPS) is a rare inherited autoinflammatory disorder, clinically characterized by cutaneous and systemic, musculoskeletal, and central nervous system inflammation. Gain-of-function mutations in NLRP3 gene are causative of signs and inflammatory symptoms in CAPS patients, in which an abnormal activation of the NLRP3 inflammasome, resulting in an inappropriate release of IL-1β and gasdermin-D-dependent pyroptosis, has been demonstrated both in in vitro and in ex vivo studies. During recent years, two new hereditary NLRP3-related disorders have been described, deafness autosomal dominant 34 (DFN34) and keratitis fugax hereditaria (KFH), with an exclusive cochlear- and anterior eye- restricted autoinflammation, respectively, and caused by mutations in NLRP3 gene, thus expanding the clinical and genetic spectrum of NLRP3-associated autoinflammatory diseases. Several crucial mechanisms involved in the control of activation and regulation of the NLRP3 inflammasome have been identified and researchers took advantage of this to develop novel target therapies with a significant improvement of clinical signs and symptoms of NLRP3-associated diseases. This review provides a broad overview of NLRP3 inflammasome biology with particular emphasis on CAPS, whose clinical, genetic, and therapeutic aspects will be explored in depth. The latest evidence on two “new” diseases, DFN34 and KFH, caused by mutations in NLRP3 is also described.

show abstract

Section: The Caps Spectrum: Clinical Laboratory and Genetic Findingsmentioning

confidence: 99%

NLRP3 inflammasome and NLRP3-related autoinflammatory diseases: From cryopyrin function to targeted therapies

2022

View full text Add to dashboard Cite

show abstract

Muckle–Wells syndrome: manifestations and diagnosis in four generations of a Portuguese family

Cited by 1 publication

References 4 publications

NLRP3 inflammasome and NLRP3-related autoinflammatory diseases: From cryopyrin function to targeted therapies

NLRP3 inflammasome and NLRP3-related autoinflammatory diseases: From cryopyrin function to targeted therapies

Contact Info

Product

Resources

About