Results 101 to 110 of about 94,301 (231)

Targeted NGS based hereditary autoinflammatory disorder screening in routine diagnostics, two year experience in the Netherlands

Pediatric Rheumatology Online Journal, 2015
Hereditary autoinflammatory diseases (AID) are characterized by recurrent bouts of systemic inflammation caused by dysregulation of the innate immunity system.
M. Elferink, P. V. Zon, J. Frenkel, W. Harts, A. Simon, A. V. Royen-Kerkhof, Joost F. Swart, H-K Ploos van Amstel, M. V. Gijn   +8 more
semanticscholar   +1 more source

Fatal Chronic Varicella‐Zoster Viral Infection in a Young Man With Chediak–Higashi Syndrome

Pediatric Dermatology, EarlyView.
ABSTRACT Chediak–Higashi syndrome (CHS) is a rare autosomal recessive primary immunodeficiency characterized by partial oculocutaneous albinism, neurologic involvement, and a predisposition to severe infections. Patients are particularly susceptible to developing hemophagocytic lymphohistiocytosis (HLH), which significantly worsens prognosis. We report
Albane Badet, Clément Pruvot, Zoé Manssens, Wadih Abou‐Chahla, Sébastien Buche   +4 more
wiley   +1 more source

The Therapeutic Role of Interleukin-1 Inhibition in Idiopathic Recurrent Pericarditis: Current Evidence and Future Challenges

Frontiers in Medicine, 2017
Recurrent pericarditis is a common complication of acute pericarditis (15–30%) for which, in most cases, no underlying etiology is found [idiopathic recurrent pericarditis (IRP)]. IRP is currently viewed as an autoinflammatory disease with characteristic
George Lazaros, Katerina Antonatou, Dimitrios Vassilopoulos   +2 more
doaj   +1 more source

Autoinflammatory diseases: Update on classification diagnosis and management [PDF]

, 2017
The spectrum of systemic autoinflammatory disorders broadens continually. In part, this is due to the more widespread application of massive parallel sequencing, helping with novel gene discovery in this and other areas of rare diseases.
McDermott, MF, Pathak, S, Savic, S
core   +1 more source

Dermatologic Findings of RELA‐Associated Autoinflammatory Disease

Pediatric Dermatology, EarlyView.
ABSTRACT Variants in the gene RELA have been implicated in a monogenic, hereditary form of Behcet's‐like syndrome. This case series describes the dermatologic manifestations of three patients with identified RELA‐associated autoinflammatory disease.
Elizabeth Nourse, Vidya Sivaraman, Catherine G. Chung, Shoghik Akoghlanian, Esteban Fernandez Faith   +4 more
wiley   +1 more source

Principles of clinical genetics for rheumatologists: clinical indications and interpretation of broad-based genetic testing

Advances in Rheumatology
Advances in DNA sequencing technologies, especially next-generation sequencing (NGS), which is the basis for whole-exome sequencing (WES) and whole-genome sequencing (WGS), have profoundly transformed immune-mediated rheumatic disease diagnosis. Recently,
Renan Rodrigues Neves Ribeiro do Nascimento, Caio Robledo D’Angioli Costa Quaio, Christine Hsiaoyun Chung, Dewton de Moraes Vasconcelos, Flavio Roberto Sztajnbok, Nilton Salles Rosa Neto, Sandro Félix Perazzio   +6 more
doaj   +1 more source

How to identify a patient with autoinflammatory syndrome: Clinical and diagnostic algorithms

Современная ревматология, 2013
Autoinflammatory syndromes (AISs) are a group of predominantly hereditary diseases associated with the spontaneous uncontrolled production of proinflammatory cytokines. Most diseases are known to have molecular mechanisms and an inheritance pattern.
Mikhail Mikhailovich Kostik, L S Snegireva, M F Dubko, V V Masalova, T S Likhacheva, O V Kalashnikova, V G Chasnyk   +6 more
doaj   +1 more source

Cutaneous vasculitis and recurrent infection caused by deficiency in complement factor I [PDF]

, 2018
Cutaneous leukocytoclastic vasculitis arises from immune complex deposition and dysregulated complement activation in small blood vessels. There are many causes, including dysregulated host response to infection, drug reactions, and various autoimmune ...
Despina Eleftheriou, Ebun Omoyinmi, Kimberly Gilmour, Nigel Klein, Paul A. Brogan, Radhika Ramnath, Sira Nanthapisal, Sira Nanthapisal, Valentina Leone, Ying Hong   +9 more
core   +2 more sources

NEMO‐NDAS: Case Report and Review of the Literature

Pediatric Dermatology, EarlyView.
ABSTRACT NEMO‐deleted exon 5 autoinflammatory syndrome (NEMO‐NDAS) is the result of a gain‐of‐function IKBKG pathogenic variant leading to dysregulated NF‐κB signaling and systemic inflammation. We present a case of NEMO‐NDAS in a 2‐year‐old female presenting with recurrent fevers, subcutaneous nodules, lymphadenopathy, and splenomegaly.
Angela Yang, Kristie Mar, Kimberly A. Morishita, Kevin Meesters, Antonio Torrelo, Joseph M. Lam   +5 more
wiley   +1 more source

Adjunctive Therapeutic Plasma Exchange in Refractory Adult‐Onset Still's Disease Complicated by Secondary Macrophage Activation Syndrome: A Single‐Center Experience

Therapeutic Apheresis and Dialysis, Volume 30, Issue 3, Page 389-396, June 2026.
ABSTRACT Introduction Adult‐onset Still's disease (AOSD) complicated by macrophage activation syndrome (MAS) carries substantial mortality. The role of therapeutic plasma exchange (TPE) remains uncertain. Methods We retrospectively analyzed patients with AOSD‐MAS treated with TPE at a single‐center.
Masataka Ueda, Tomohiro Saito, Masahide Mizobuchi, Tomoki Shimomura, Saki Kawamori, Mitsuru Kawanishi, Natsuko Hattori, Jo Sugiyama, Satoshi Tsubata, Hanami Horiguchi, Kazuki Abe, Nao Iida, Yuki Kajio, Nao Oguro, Ryo Yanai, Hirokazu Honda   +15 more
wiley   +1 more source