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8 Possible Causes for Mutation in the NLRC4 Gene

  • Olfactory Neuroblastoma

    However, in the original surgical resection specimen (prior to evidence of metastatic disease), mutations in KDR, MYC, SIN3B, and NLRC4 genes were not present, suggesting[ncbi.nlm.nih.gov] In the metastatic ONB samples collected several months prior to WGS, all seven mutations were present.[ncbi.nlm.nih.gov]

  • Adult-Onset Still Disease

    A157: macrophage activation syndrome-like illness due to an activating mutation in NLRC4. Arthritis Rheumatol. 2014;66(Suppl 11):S203. CrossRef Google Scholar 86.[doi.org] Gene expression profiling of peripheral blood from patients with untreated new-onset systemic juvenile idiopathic arthritis reveals molecular heterogeneity that may predict[doi.org]

  • CINCA Syndrome

    It belongs to the group of the so-called inflammasome-pathies, together with other conditions associated to mutations of genes that are members of the same protein family[ojrd.biomedcentral.com] (NLRP12, NLRC4, NLRP12).[ojrd.biomedcentral.com]

  • Familial Mediterranean Fever

    Using a short priming step, the response of monocytes from FMF patients to NLRP3- and NLRC4-activating stimuli was normal indicating that MEFV mutations trigger a specific[ncbi.nlm.nih.gov] […] exon 10 pathogenic variants displayed an increased Pyrin inflammasome response compared with monocytes from patients with a single exon 10 pathogenic variant indicating a gene-dosage[ncbi.nlm.nih.gov]

  • Hyper IgD Syndrome

    gene; indeed, the clinical spectrum of the diseases associated to mutations of the following genes MEFV, NLRC4, NOD2, PSTPiP1 has been extended [ 4, 5, 6, 7, 8 ].[em-consulte.com] Another advance in genetics is the discovery of patients displaying somatic mutations of genes associated with AID either when the disease occurs late in life or if it occurs[em-consulte.com] Interestingly, genetic discoveries in recent years have shown that some monogenic diseases have a different clinical expression depending on the site of the mutation in the[em-consulte.com]

  • Schmidt Syndrome

    NLRC4 gene.[wjgnet.com] Familial cold autoinflammatory syndrome 4 is an autosomal dominant disease caused by heterozygous mutation in the NLRC4 gene and characterized by intermittent episodes of[wjgnet.com] It has also been shown that this mutation, functionally associated with gain of function, cosegregates in the family with the disease[ 39 ].[wjgnet.com]

  • Enteropathy, Familial with Villous Edema and IgG2 Deficiency

    , caused by mutation in the PLCG2 gene ( OMIM ) on chromosome 16q23; and FCAS4 ( OMIM ), caused by mutation in the NLRC4 gene ( OMIM ) on chromosome 2p22.[mendelian.co] Genetic Heterogeneity of Familial Cold Autoinflammatory SyndromeSee also FCAS2 ( OMIM ), caused by mutation in the NLRP12 gene ( OMIM ) on chromosome 19q13; FCAS3 ( OMIM )[mendelian.co]

  • Combined Immunodeficiency due to LRBA Deficiency

    NLRC4 gene.[wjgnet.com] Familial cold autoinflammatory syndrome 4 is an autosomal dominant disease caused by heterozygous mutation in the NLRC4 gene and characterized by intermittent episodes of[wjgnet.com] It has also been shown that this mutation, functionally associated with gain of function, cosegregates in the family with the disease[ 39 ].[wjgnet.com]

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