Novel NLRP12 mutations associated with intestinal amyloidosis in a patient diagnosed with common variable immunodeficiency

Borte, Stephan; Celiksoy, Mehmet Halil; Menzel, Volker; Özkaya, Ozan; Özen, Fatma Zeynep; Hammarström, Lennart; Yıldıran, Alişan

doi:10.1016/j.clim.2014.07.003

Cited by 31 publications

(20 citation statements)

References 44 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…In our study, we used this protocol to successfully identify a pathogenic mutation in a family with FCAS, which illustrated the effectiveness of exome sequencing technology for the identification of disease-causing genes for an extremely rare disease. We acknowledge one report that used exome sequencing to identify the mutation in NLRP12 for common variable immunodeficiency disease [ 21 ].…”

Section: Discussionmentioning

confidence: 99%

Identification of a Novel NLRP12 Nonsense Mutation (Trp408X) in the Extremely Rare Disease FCAS by Exome Sequencing

et al. 2016

View full text Add to dashboard Cite

Familial cold autoinflammatory syndrome (FCAS) is an extremely rare autosomal dominant inherited disease. Although there are four genes that have been linked with FCAS, its molecular diagnosis has been challenging in a relatively large proportion of cases. In this study, we aimed to investigate the genetic defect of a recruited FCAS family using exome sequencing followed by in-depth bioinformatics analysis. As a result, a novel heterozygous stop-gain mutation (Trp408X) in NLRP12 was identified in autosomal dominant inherited FCAS with clinical features of recurrent fever and skin urticaria due to cold conditions. When combined with previous studies, all of the reported mutations were found to have occurred in a highly conserved region in the NACHT domain coding sequence in NLRP12 exon 3, suggesting that a screening strategy for FCAS should focus on this area of the gene. In conclusion, this study demonstrates the importance of exome sequencing for clinical diagnosis of genetic disorders and provides molecular insight into FCAS treatment and diagnosis.

show abstract

Section: Discussionmentioning

confidence: 99%

Identification of a Novel NLRP12 Nonsense Mutation (Trp408X) in the Extremely Rare Disease FCAS by Exome Sequencing

et al. 2016

View full text Add to dashboard Cite

show abstract

“…The genes and the pathways identified in this study may be further pursued by studies with larger sample size and functional studies. In addition to whole genome-sequencing, recently exome-sequencing identified additional mutations that are related or causative in individual CVID patients, such as the newly identified mutations in genes NLRP12 [53], NFKB2 [54], ITPKB [55] and RAG1 [56]. A recent genetic study using whole exome-sequencing and comparative genomic hybridization array identified multiple heterozygous mutations and deletions in gene IKZF1 responsible for a form of CVID with drastically reduced number of B cells.…”

Section: Whole Genome Sequencing and Rna Sequencingmentioning

confidence: 97%

Understanding the genetic and epigenetic basis of common variable immunodeficiency disorder through omics approaches

Jin

Wei

et al. 2016

Biochimica et Biophysica Acta (BBA) - General Subjects

View full text Add to dashboard Cite

“…Recently, LRP12 mutations were found in patients with intestinal amyloidosis and CVID, which denotes the complex association between immunodeficiency and autoinflammatory disease [ 8 ].…”

Section: Discussionmentioning

confidence: 99%

Intestinal Amyloidosis in Common Variable Immunodeficiency and Rheumatoid Arthritis

Meira

Sousa

Cordeiro

et al. 2015

Case Reports in Gastrointestinal Medicine

View full text Add to dashboard Cite

We present a case of reactive amyloidosis that developed secondary to common variable immunodeficiency and rheumatoid arthritis. A 66-year-old woman, with prior history of common variable immunodeficiency and rheumatoid arthritis, was referred to our clinic for chronic diarrhea investigation. The patient was submitted to colonoscopy with ileoscopy, which did not show relevant endoscopic alterations. However, undertaken biopsies revealed amyloid deposition. Since amyloidosis with GI involvement is a rare cause of chronic diarrhea, this pathology should be considered in etiologic investigation, especially when associated with chronic inflammatory diseases.

show abstract

Novel NLRP12 mutations associated with intestinal amyloidosis in a patient diagnosed with common variable immunodeficiency

Cited by 31 publications

References 44 publications

Identification of a Novel NLRP12 Nonsense Mutation (Trp408X) in the Extremely Rare Disease FCAS by Exome Sequencing

Identification of a Novel NLRP12 Nonsense Mutation (Trp408X) in the Extremely Rare Disease FCAS by Exome Sequencing

Understanding the genetic and epigenetic basis of common variable immunodeficiency disorder through omics approaches

Intestinal Amyloidosis in Common Variable Immunodeficiency and Rheumatoid Arthritis

Contact Info

Product

Resources

About