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How to build a fire: the genetics of autoinflammatory diseases
J Zhang, PY Lee, I Aksentijevich… - Annual Review of …, 2023 - annualreviews.org
Systemic autoinflammatory diseases (SAIDs) are a heterogeneous group of disorders
caused by excess activation of the innate immune system in an antigen-independent …
caused by excess activation of the innate immune system in an antigen-independent …
Genetic and epigenetic dysregulation of innate immune mechanisms in autoinflammatory diseases
Dysregulation and hyperactivation of innate immune responses can lead to the onset of
systemic autoinflammatory diseases. Monogenic autoinflammatory diseases are caused by …
systemic autoinflammatory diseases. Monogenic autoinflammatory diseases are caused by …
ALPK1 mutants causing ROSAH syndrome or Spiradenoma are activated by human nucleotide sugars
T Snelling, A Saalfrank, NT Wood, P Cohen - Proceedings of the National …, 2023 - pnas.org
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 …
heptose and phosphorylates TIFA to switch on a signaling pathway that combats microbial …
[HTML][HTML] Ophthalmic manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) syndrome, an inherited NF κB …
Purpose We aimed to characterize the ocular phenotype of patients with ROSAH (retinal
dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache) syndrome and …
dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache) syndrome and …
Evaluation and management of dry mouth and its complications in rheumatology practice
Z Khavandgar, BM Warner, AN Baer - Expert review of clinical …, 2024 - Taylor & Francis
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 …
diagnostic clue to the presence of common systemic diseases encountered in rheumatology …
Challenges and management of childhood noninfectious chronic uveitis
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 …
recognized and treated can lead to several ocular complications and blindness. It represents …
[HTML][HTML] Update on inborn errors of immunity
Ever since the first description of an inherited immunodeficiency in 1952 in a boy with
gammaglobulin deficiency, new insights have progressed rapidly in disorders that are now …
gammaglobulin deficiency, new insights have progressed rapidly in disorders that are now …
The relationship of ALPK1, hyaluronic acid and M1 macrophage polarization in the temporomandibular joint synovitis
J Zhao, Y Feng, X Liu, H Li, H Guo… - Journal of Cellular and …, 2024 - Wiley Online Library
M1 macrophage polarization and synovitis play an important role in the pathogenesis of
temporomandibular joint osteoarthritis (TMJOA). Reduced molecular weight of hyaluronic …
temporomandibular joint osteoarthritis (TMJOA). Reduced molecular weight of hyaluronic …
Explore on the mechanism of miRNA-146a/TAB1 in the regulation of cellular apoptosis and inflammation in ulcerative colitis based on NF-κB pathway
X **a, Q Yang, X Han, Y Du, S Guo… - Current Molecular …, 2025 - ingentaconnect.com
Objective: Ulcerative colitis (UC) is a chronic non-specific inflammatory disease of the
rectum and colon with unknown etiology. A growing number of evidence suggest that the …
rectum and colon with unknown etiology. A growing number of evidence suggest that the …
Discovery and functional analysis of a novel ALPK1 variant in ROSAH syndrome
T Snelling, LO Garnotel, I Jeru, M Tusseau… - Open …, 2024 - royalsocietypublishing.org
Retinal dystrophy, optic nerve oedema, splenomegaly, anhidrosis and migraine headache
(ROSAH) syndrome is an autosomal dominant disorder and to date is known to be caused …
(ROSAH) syndrome is an autosomal dominant disorder and to date is known to be caused …