Dysregulated immune system secondary to novel heterozygous mutation of CIITA gene presenting with recurrent infections and Systemic lupus erythematosus

Chidambaram, Aakash Chandran; Ramamoorthy, Jaikumar Govindaswamy; Krishnamurthy, Sriram; Manivannan, Prabhu; Karunakar, Pediredla

doi:10.22541/au.159248830.04720089

Cited by 1 publication

(1 citation statement)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Multiple organs such as Kidney, Lung and CNS Over-expression of NOD2, NLRP3, SNPs in CIITA, NLRP1 and NLRX1 [26,[41][42][43][44] Vitiligo Skin Increased expression/activation of NLRP1 and NLRP3 [26,[44][45][46] Psoriasis Epidermal layer (from the limbs to eyelids)…”

Section: Thyroiditis Thyroid Glandmentioning

confidence: 99%

Nod-like Receptors: Critical Intracellular Sensors for Host Protection and Cell Death in Microbial and Parasitic Infections

Babamale

Chen

2021

IJMS

View full text Add to dashboard Cite

Cell death is an essential immunological apparatus of host defense, but dysregulation of mutually inclusive cell deaths poses severe threats during microbial and parasitic infections leading to deleterious consequences in the pathological progression of infectious diseases. Nucleotide-binding oligomerization domain (NOD)-Leucine-rich repeats (LRR)-containing receptors (NLRs), also called nucleotide-binding oligomerization (NOD)-like receptors (NLRs), are major cytosolic pattern recognition receptors (PRRs), their involvement in the orchestration of innate immunity and host defense against bacteria, viruses, fungi and parasites, often results in the cleavage of gasdermin and the release of IL-1β and IL-18, should be tightly regulated. NLRs are functionally diverse and tissue-specific PRRs expressed by both immune and non-immune cells. Beyond the inflammasome activation, NLRs are also involved in NF-κB and MAPK activation signaling, the regulation of type I IFN (IFN-I) production and the inflammatory cell death during microbial infections. Recent advancements of NLRs biology revealed its possible interplay with pyroptotic cell death and inflammatory mediators, such as caspase 1, caspase 11, IFN-I and GSDMD. This review provides the most updated information that caspase 8 skews the NLRP3 inflammasome activation in PANoptosis during pathogen infection. We also update multidimensional roles of NLRP12 in regulating innate immunity in a content-dependent manner: novel interference of NLRP12 on TLRs and NOD derived-signaling cascade, and the recently unveiled regulatory property of NLRP12 in production of type I IFN. Future prospects of exploring NLRs in controlling cell death during parasitic and microbial infection were highlighted.

show abstract