Results 111 to 120 of about 4,846,243 (320)
Treg in inborn errors of immunity: gaps, knowns and future perspectives
Frontiers in ImmunologyRegulatory T cells (Treg) are essential for immune balance, preventing overreactive responses and autoimmunity. Although traditionally characterized as CD4+CD25+CD127lowFoxP3hi, recent research has revealed diverse Treg subsets such as Tr1, Tr1-like, and
Rebeca Kennedy-Batalla +7 more
semanticscholar +1 more source
Medicina, 2019 The term congenital hypopigmentary disorders refers to a wide group of heterogeneous hereditary diseases, clinically characterized by inborn pigmentary defects of the iris, hair, and/or skin.
Laura Cristina Gironi +10 more
doaj +1 more source
Advanced Science, EarlyView.Clinical intramuscular thymus transplantation yields only short‐lived efficacy and marginal therapeutic benefits. Benefiting from the spleen's intrinsic strengths—rapid vascular perfusion, abundant developmental factors, and resident progenitors—the intrasplenic thymic grafts achieve robust thymic regeneration and substantial T‐cell reconstitution ...
Shaocong Wang +10 more
wiley +1 more source
Griscelli syndrome type 2: Rare 3 cases from Iraq
Iraqi Journal of HematologyGriscelli syndrome (GS) is multisystem disorder of three subtypes, hereditary autosomal recessive diseases characterized by inborn silvery gray hair, partial skin albinism & immune deficiency. It was first reported by Griscelli et al. in 1978.
Mouroge Hashim AL Ani, Farah Samer Yahya
doaj +1 more source
Advanced Science, EarlyView.In human CAVD, KLF5 is reduced in VIC‐rich regions and remodeling/stress‐associated VIC states. In VICs, KLF5 sustains BNIP3 promoter activity and BNIP3‐mediated mitophagy, thereby limiting cytosolic mtDNA accumulation. KLF5 loss weakens mitochondrial quality control and enhances mtDNA‐sensitive STING/NF‐κB/NLRP3 inflammatory signaling under osteogenic
Jin‐Hui Bian +13 more
wiley +1 more source
Rheumatological manifestations in inborn errors of immunity
, 2020 Rare monogenetic diseases serve as natural models to dissect the molecular pathophysiology of the complex disease traits. Rheumatologic disorders by their nature are considered complex diseases with partially genetic origin, as illustrated by their ...
ÖZEN, SEZA +7 more
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Causal Association between Periodontal Diseases and Cardiovascular Diseases
, 2021 Observational studies have revealed that dental diseases such as periodontitis and dental caries increase the risk of cardiovascular diseases (CVDs). However, the causality between periodontal disease (PD) and CVDs is still not clarified.
Jiangtao Dong +3 more
core +1 more source
Advanced Science, EarlyView.BNC2 exhibits context‐dependent opposing functions across multiple cancer types. This study reveals BNC2 as an oncogenic driver of melanoma proliferation and metastasis through transcriptional activation of PIK3CA. The natural compound TSN simultaneously degrades BNC2 and its oncogenic partner SMAD3 via CRBN‐dependent ubiquitination.
Hui Dai +7 more
wiley +1 more source
Revista Electrónica Dr. Zoilo E. Marinello Vidaurreta, 2017 The Shprintzen-Goldberg syndrome is an extremely rare disorder of the connective tissue, characterized by Marfanoid bodily habitus, craniosynostosis with peculiar facies and skeletal alterations associated with intellectual disability.
Elayne Esther Santana Hernández
doaj
The Hyperactivation of JAK-STAT Signaling Connects Inborn Errors of Immunity and Autoimmune Diseases
JAK-STAT signaling pathway is an important cytokine signaling transduction pathway. Many monogenic loss-of-function or gain-of-function mutations in this pathway can cause inborn errors of immunity (IEI).
ZHAO Xiaodong, JIANG Yi, AN Yunfei
core +1 more source