Open AccessGeneralized Cytokine Increase in the Setting of a Multisystem Clinical Disorder and Carcinoid Syndrome Associated with a Novel NLRP12 Variant
Author(s) -
Noam Jacob,
Sonya Dasharathy,
Viet L. Bui,
Jihane N. Benhammou,
Wayne W. Grody,
Ram Raj Singh,
Joseph R. Pisegna
Publication year - 2019
Publication title -
digestive diseases and sciences
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.14
H-Index - 124
eISSN - 1573-2568
pISSN - 0163-2116
DOI - 10.1007/s10620-019-05525-6
Subject(s) - proband , immunology , subfamily , exome sequencing , pyrin domain , rash , medicine , exome , genetics , biology , gene , mutation , inflammation , inflammasome
Nucleotide-binding oligomerization domain (NOD)-like receptors (NLRs) are a group of cytoplasmic sensors that survey danger signals released by invading pathogens or damaged tissue. Mutations in the NLRP subfamily affect pro-inflammatory mediators and cause nonspecific systemic symptoms.