Systemic autoinflammatory diseases (SAIDs) are a heterogeneous group of disorders
caused by excess activation of the innate immune system in an antigen-independent …

Introduction Childhood uveitis is a sight-threatening condition, because if not properly
recognized and treated can lead to several ocular complications and blindness. It represents …

Purpose We aimed to characterize the ocular phenotype of patients with ROSAH (retinal
dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache) syndrome and …

Introduction The symptom of dry mouth has multiple potential etiologies and can be a
diagnostic clue to the presence of common systemic diseases encountered in rheumatology …

The atypical protein kinase ALPK1 is activated by the bacterial nucleotide sugar ADP-
heptose and phosphorylates TIFA to switch on a signaling pathway that combats microbial …

Update on autoinflammatory diseases : Current Opinion in Rheumatology Update on
autoinflammatory diseases : Current Opinion in Rheumatology Log in or Register Subscribe to …

Nuclear factor kappa-light-chain-enhancer of activated B cells (NF-kB) is a protein family of
transcription factors that is involved in a diverse range of cellular functions. NF-kB was first …

Dysregulation and hyperactivation of innate immune responses can lead to the onset of
systemic autoinflammatory diseases. Monogenic autoinflammatory diseases are caused by …

Introduction Retinal degenerative or inflammatory changes may occur with hereditary
immunological disorders (HID) due to variants in approximately 20 genes. This study aimed …

To suggest a unique missense variant candidate based on long‐term ophthalmological
changes and associated systemic signs described in five patients from two unrelated …