Journal of Allergy and Clinical Immunology
The positions of non-missense deleterious variants in RELA allow the estimation of the associated functional changes, facilitating the precise diagnosis of AD RelA deficiency. Conversely, RELA missense variants require functional verification, as their impact cannot be predicted solely from their position.
CD25 expression in HLMCs is upregulated by IL-33 and dynamically regulated in human lung tissues.
Children with FPIES exhibit gut microbial dysbiosis characterized by reduced Bifidobacterium and Verrucomicrobiota abundance, suggesting potential links between early-life microbiota development and disease pathogenesis.
Pyrin Inflammasome Activation Triggers an IL-18-Driven IFNγ Response in Mevalonate Kinase Deficiency
Our findings identify a pyrin-inflammasome driven IL-18/IFNγ axis as a key signaling module of MKD-associated inflammation. This pathway may represent a novel target for therapeutic intervention in MKD.

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