Elevated serum level and altered glycosylation of _1-acid glycoprotein in hyperimmunoglobulinemia D and periodic fever syndrome: evidence for persistent inflammation [PDF]
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Dijk, W. van +4 more
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We report on a patient homozygous for a novel autosomal recessive loss‐of‐function CARD11 variant, with susceptibility to live attenuated virus (LAV) vaccines and impaired clearance of multiple naturally acquired respiratory viral infections. Inborn errors of immunity affecting the CARD11‐BCL10‐MALT1 (CBM) complex should be considered in individuals ...
Hamish Anderson +12 more
wiley +1 more source
The burgeoning field of innate immune-mediated disease and autoinflammation. [PDF]
Immune-mediated autoinflammatory diseases are occupying an increasingly prominent position among the pantheon of debilitating conditions that afflict mankind.
McDermott, MF +3 more
core +1 more source
The challenge of autoinflammatory syndromes: with an emphasis on hyper-IgD syndrome [PDF]
Autoinflammatory syndromes are disorders with an exaggerated inflammatory response, mostly in the absence of an appropriate trigger. Prototypic autoinflammatory syndromes are FMF, hyper-IgD syndrome (also known as mevalonate kinase deficiency), TNF receptor-associated periodic syndrome and cryopyrin-associated periodic syndrome. The clinical phenotypes
Meer, J.W.M. van der, Simon, A.
openaire +3 more sources
Review of Biological Agents in the Therapeutic Management of Monogenic Genodermatoses
Monogenic genodermatoses encompass a diverse group of over 400 distinct disorders, presenting significant therapeutic challenges. Recent advancements in the clinical application of biological agents have heralded a new era in the management of these conditions.
Xueying Wang +4 more
wiley +1 more source
Naturally occurring mutation affecting the MyD88-binding site of TNFRSF13B impairs triggering of class switch recombination [PDF]
Mutations in the transmembrane activator and calcium-modulating cyclophilin ligand interactor (TACI) were previously found to be associated with hypogammaglobulinemia in humans.
Almejún, María Belén +7 more
core +4 more sources
Background Acute graft‐versus‐host disease (aGvHD) is a major immune complication of allogeneic hematopoietic stem cell transplantation (Allo‐HSCT), driven by complex immune‐cytokine interactions. This study employed machine learning (ML) algorithms to develop early predictive models for aGvHD using immune and cytokine profiles of Allo‐HSCT recipients ...
Mohini Mendiratta +22 more
wiley +1 more source
Systemic sclerosis (SSc) is a rare autoimmune disease, and lung complications (ILD) are the main cause of death. This study compared SSc patients with and without lung disease to healthy volunteers. We found increased inflammation, specific proteins, and higher triglyceride levels linked to lung disease progression. These findings suggest triglycerides
Selena Bouffette +16 more
wiley +1 more source
Bilateral Lung Transplantation in a Patient with Humoral Immune Deficiency: A Case Report with Review of the Literature [PDF]
Humoral immune deficiencies have been associated with noninfectious disease complications including autoimmune cytopenias and pulmonary disease. Herein we present a patient who underwent splenectomy for autoimmune cytopenias and subsequently was ...
Astor, Todd L. +6 more
core +4 more sources
Report of a case marshall syndrome in Western Azerbaijan [PDF]
زمینه و هدف: سندروم PFAPA یا مارشال اختلال نسبتاً جدید شناخته شده است. این عارضه با مجموعه ای از علائم، شامل دوره های راجعه تب، آفت دهانی، گلودرد و بزرگی غدد لنفاوی شناخته می شود.
Behpour, Naser. +4 more
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