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 …

Genetic and epigenetic dysregulation of innate immune mechanisms in autoinflammatory diseases

LM Merlo Pich, A Ziogas, MG Netea - The FEBS Journal, 2024 - Wiley Online Library
Dysregulation and hyperactivation of innate immune responses can lead to the onset of
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 …

[HTML][HTML] Ophthalmic manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) syndrome, an inherited NF κB …

LA Huryn, CT Kozycki, JY Serpen, WM Zein, E Ullah… - Ophthalmology, 2023 - Elsevier
Purpose We aimed to characterize the ocular phenotype of patients with ROSAH (retinal
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 …

Challenges and management of childhood noninfectious chronic uveitis

I Maccora, E Marrani, I Pagnini… - Expert Review of …, 2023 - Taylor & Francis
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 …

[HTML][HTML] Update on inborn errors of immunity

H IJspeert, ESJ Edwards, RE O'Hehir… - Journal of Allergy and …, 2024 - Elsevier
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 …

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 …

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 …

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 …