Mutation in the NLRP3 Gene: Causes & Reasons

Possible Causes for Mutation in the NLRP3 Gene

Familial Cold Autoinflammatory Syndrome Type 1

Some patients with a classical phenotype of FCAS, MWS or CINCA syndrome may not have mutations in NLRP3, suggesting involvement of additional genes. [orpha.net]

Amyloidosis, arthritis are uncommon while deafness, lymphadenopathy, and serositis are absent Etiology FCAS is caused by gain-of-function point mutations in the NLRP3 gene [orpha.net]

Mutations in NLRP3 gene ultimately lead to the increased secretion of the proinflammatory cytokine interleukin (IL)-1 beta and dysregulated inflammation. [orpha.net]

Cryopyrin-Associated Periodic Syndrome

The genetic analysis detected the heterozygous germline p.R260W mutation in the NLRP3 gene in the three women, confirming the diagnosis of CAPS. [ncbi.nlm.nih.gov]

Mutations in the NLRP3 ( CIAS1 ) Gene Cause CAPS Need a Genetic Test Panel for Autoinflammatory Diseases? [autoinflammatory.org]

[…] in the NLRP3 gene. [acrabstracts.org]

Muckle-Wells Syndrome

The three diseases are related to mutations in the NLRP3 gene located in the chromosome1q44. [6] Various mutations, mostly missense, in exon 3 of this gene have been identified [jpgmonline.com]

[…] by recurrent systemic inflammation (1) - caused by missense mutations in the cold-induced autoinflammatory syndrome-1-gene (CIAS1), also referred to as NLRP3 or NALP3 CAPS [gpnotebook.com]

There is a 50% chance that a parent with CAPS will pass the NLRP3 gene mutation onto their child. [autoinflammatory.org]

CINCA Syndrome

CINCA syndrome is an autosomal dominant disorder caused by mutations of the NLRP3 gene. [moldiag.com]

[…] in the NLRP3 gene on chromosome 1q. [diseases.jensenlab.org]

[…] characterized by neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation that has_material_basis_in heterozygous mutation [diseases.jensenlab.org]

Mucinous Cystadenocarcinoma of the Ovary

NLRP3 gene mutations are believed to result in hyperactive cryopyrin proteins. [raregenomics.org]

It is associated with mutations in the NLRP3 gene (before known as CIAS1) which codifies cryopyrin. [scielo.br]

Schnitzler Syndrome

We identified mutations in the NLRP3 gene that were unnoticed in the Sanger sequencing. [radboudumc.nl]

This condition is caused by activating mutations in the NLRP3 gene (nucleotide-binding oligomerization domain-leucine-rich repeats containing pyrin domain 3). [ashpublications.org]

Long-term clinical course of patients carrying the Q703K mutation in the NLRP3 gene: a case series. [austinpublishinggroup.com]

Wells Syndrome

NLRP3 gene mutations are believed to result in hyperactive cryopyrin proteins. [raregenomics.org]

We report two patients with MWS in an Indian family associated with the p.D303N mutation in the NLRP3 gene. [jpgmonline.com]

Multicentric Castleman's Disease

NLRP3 gene mutations are believed to result in hyperactive cryopyrin proteins. [raregenomics.org]

[…] in the NLRP3 gene. [mdedge.com]

Cold Urticaria

Some patients with a classical phenotype of FCAS, MWS or CINCA syndrome may not have mutations in NLRP3, suggesting involvement of additional genes. [orpha.net]

These are autoinflammatory inherited disorders caused by autosomal dominant gain-of-function mutations in the NLRP3 gene, located on chromosome 1q44. [doi.org]

Mutations in the NLRP3 and NLRP12 genes cause familial cold autoinflammatory syndrome. [ghr.nlm.nih.gov]

Keratitis Fugax Hereditaria

Domain-Containing 3 (NLRP3) Gene. [eyewiki.aao.org]

[…] in the Nucleotide-Binding Domain, Leucine-Rich Repeat Family, Pyrin Domain-Containing 3 (NLRP3) Gene. [pubmed.ncbi.nlm.nih.gov]

Domain-Containing 3 (NLRP3) Gene Joni A Turunen et al. [pubmed.ncbi.nlm.nih.gov]

Autoinflammatory Syndrome

It is often described as "an allergy to cold" Genetic Mutation In the NLRP3 ( CIAS1 ) Gene Autosomal dominant inheritance leads to the passing on of the the CAPS genetic mutation [autoinflammatory.org]

In conditions such as FCAS, there is an underlying mutation in the NLRP3 gene, causing high levels of active IL-1β and IL-18 to be cleaved and secreted. [immunology.org]

FCAS is one of the cryopyrin associated periodic syndromes (CAPS) caused by mutations in the CIAS1/NLRP3 gene. [rarediseases.org]

Menstrual Cycle-Dependent Periodic Fever

CAPS is caused by mutations in the NLRP3/CIAS1 gene. The disease is dominant and about 75% of patients with milder disease have affected relatives. [ucl.ac.uk]

[…] in a single gene, NLRP3. [clinicaladvisor.com]

NLRP3 down-modulation was induced by in vitro silencing of the NLRP3 gene. [ard.bmj.com]

Cold-Induced Sweating Syndrome Type 1

FCAS is one of the cryopyrin associated periodic syndromes (CAPS) caused by mutations in the CIAS1/NLRP3 gene. [rarediseases.org]

Molecular biology and genetics Mutations occur in the NLRP3 gene which codes for cryopyrin, a component of protein complexes called inflammasomes found inside cells and involved [dermnetnz.org]

Yao Syndrome

All three cryopyrinopathies are caused by mutations in the NLRP3 gene in chromosome 1, encoding a protein called cryopyrin (also known as NALP3, CIAS1, or PYPAF1). [musculoskeletalkey.com]

conjunctivitis and sensorineural hearing loss associated with NLRP3 mutations that may be revealed by gene sequencing.12-14 Tumor necrosis factor receptor-associated periodic [the-rheumatologist.org]

In patients with FMF, the mutations in the MEFV gene result in the production of pyrin even in the absence of external triggers, leading to the formation of the NLRP3 inflammasome [musculoskeletalkey.com]

Familial Cold Autoinflammatory Syndrome Type 4

Mutations in the gene encoding cryopyrin, NLRP3, are associated with deregulation of caspase-1 activity, excessive interleukin-1 production and an autoinflammatory syndrome [typeset.io]

[…] in the gene encoding cryopyrin, NLRP3, are associated with deregulation of caspase-1 activity, excessive interleukin-1 production and an autoinflammatory syndrome, which [typeset.io]

[…] partie sur l’anamnese, la presence d’une inflammation en crise et sur des analyses genetiques de plus en plus performantes. ...read moreread less Journal Article•DOI• TL;DR: Mutations [typeset.io]

Familial Episodic Pain Syndrome Type 3

FCAS is one of the cryopyrin associated periodic syndromes (CAPS) caused by mutations in the CIAS1/NLRP3 gene. [rarediseases.org]

Causes FCAS is usually inherited in an autosomal dominant condition and is caused by a heterozygous mutation in a gene identified as CIAS1/NLRP3 that codes for the protein [rarediseases.org]

Confirmation of the diagnosis is achieved through DNA gene analysis and the identification of a CIAS1/NLRP3 mutation(4), although not all FCAS patients possess a mutation [rarediseases.org]

Cold-Induced Sweating Syndrome Type 2

Molecular biology and genetics Mutations occur in the NLRP3 gene which codes for cryopyrin, a component of protein complexes called inflammasomes found inside cells and involved [dermnetnz.org]

This syndrome is also characterized by autosomal dominant inherited genetic mutation on the NLRP3 ( CIAS1 ) gene that codes the protein cryopyrin. [autoinflammatory.org]

Familial Enteropathy with Villous Edema and IgG2 Deficiency

Rarely, some patients may also develop late-onset renal amyloidosis ( Hoffman et al., 2000 ).Overlapping syndromes also caused by mutation in the NLRP3 gene include Muckle-Wells [mendelian.co]

Familial Episodic Pain Syndrome Type 2

FCAS is one of the cryopyrin associated periodic syndromes (CAPS) caused by mutations in the CIAS1/NLRP3 gene. [rarediseases.org]

Causes FCAS is usually inherited in an autosomal dominant condition and is caused by a heterozygous mutation in a gene identified as CIAS1/NLRP3 that codes for the protein [rarediseases.org]

Confirmation of the diagnosis is achieved through DNA gene analysis and the identification of a CIAS1/NLRP3 mutation(4), although not all FCAS patients possess a mutation [rarediseases.org]

Ansell-Bywaters-Elderking Syndrome

In CAPS (FCAS, MWS, and NOMID/CINCA) there is constitutive activation of the NLRP3 inflammasome caused by autosomal dominant mutations in the NLRP3 gene. [jacionline.org]

The discovery that genetic mutations in exon 3 of the gene NLRP3 (NALP3, CIAS1) cause all 3 disease phenotypes explains the IL-1β overproduction seen in all 3. [jacionline.org]

Nevertheless, up to 40% of patients with clinical NOMID have no demonstrable mutations in NLRP3, suggesting the likelihood that mutations will eventually be found in other [jacionline.org]

Autosomal Recessive Deafness 24

An interesting form of autosomal dominant, nonsyndromic (or let’s say non-dysmorphic) is Muckle-Wells syndrome, caused by heterozygous mutation in the NLRP3 gene. [bredagenetics.com]

Carcinomatous Polyarthritis

[…] in the NLRP3 gene have affected components of the inflammasomes (e.g, cryopyrin) which are important in recognizing microbial products and endogenous danger signals (11). [rheumaknowledgy.com]

These diseases are characterized by unprovoked, recurrent episodes of fever, serositis, arthritis, and cutaneous inflammation resulting from specific genetic mutations affecting [rheumaknowledgy.com]

Cryopyrin-Associated Periodic Syndromes (CAPS) which include: Familial Cold Autoinflammatory Syndrome, Muckle-Wells Syndrome (MWS), Neonatal-Onset Multisystem Inflammatory Disease (NOMID), mutations [rheumaknowledgy.com]

Deafness, Autosomal Dominant 23

An interesting form of autosomal dominant, nonsyndromic (or let’s say non-dysmorphic) is Muckle-Wells syndrome, caused by heterozygous mutation in the NLRP3 gene. [bredagenetics.com]

Autosomal Recessive Deafness 1B

An interesting form of autosomal dominant, nonsyndromic (or let’s say non-dysmorphic) is Muckle-Wells syndrome, caused by heterozygous mutation in the NLRP3 gene. [bredagenetics.com]

X-Linked Non-Syndromic Sensorineural Deafness Type DFN

An interesting form of autosomal dominant, nonsyndromic (or let’s say non-dysmorphic) is Muckle-Wells syndrome, caused by heterozygous mutation in the NLRP3 gene. [bredagenetics.com]

Majeed Syndrome

There is a 50% chance that a parent with CAPS will pass the NLRP3 gene mutation onto their child. [autoinflammatory.org]

In the 21st century, genetic mutations in the NLRP3 ( CIAS1 ) gene were found to be present in most patients with these syndromes. [nomidalliance.org]

Mutation PubMed.gov: The expanding spectrum of low-penetrance TNFRSF1A gene variants in adults presenting with recurrent inflammatory attacks: clinical manifestations and [saidsupport.org]

Idiopathic Recurrent Pericarditis

This particular mutation has been found in some individuals who have Muckle-Wells syndrome, a known syndrome associated with mutations in the NLRP3 gene. [healio.com]

She was found to have a mutation in the NLPR3 gene, which causes NOMID. [healio.com]

Autosomal Dominant Deafness 11

An interesting form of autosomal dominant, nonsyndromic (or let’s say non-dysmorphic) is Muckle-Wells syndrome, caused by heterozygous mutation in the NLRP3 gene. [bredagenetics.com]

Autosomal Dominant Deafness 56

An interesting form of autosomal dominant, nonsyndromic (or let’s say non-dysmorphic) is Muckle-Wells syndrome, caused by heterozygous mutation in the NLRP3 gene. [bredagenetics.com]

Nonpenetrating Wound

Domain-Containing 3 (NLRP3) Gene. [disorders.eyes.arizona.edu]

Genetics Heterozygous mutations in the NLRP3 gene (1q44) encoding cryopyrin have been identified in European (Finnish) populations with this disorder. [disorders.eyes.arizona.edu]

Repeat Family, Pyrin Domain-Containing 3 (NLRP3) Gene Turunen JA, Wedenoja J, Repo P, Jarvinen RS, Jantti JE, Mortenhumer S, Riikonen AS, Lehesjoki AE, Majander A, Kivela [disorders.eyes.arizona.edu]