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European Society for Immunodeficiencies (ESID) and European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN RITA) Complement Guideline : Deficiencies, Diagnosis, and Management

This guideline aims to describe the complement system and the functions of the constituent pathways, with particular focus on primary immunodeficiencies (PIDs) and their diagnosis and management. The complement system is a crucial part of the innate immune system, with multiple membrane-bound and soluble components. There are three distinct enzymatic cascade pathways within the complement system,

Imagination

Imagination is a human capacity that reproduces and transforms experiences and thoughts. The capacity is manifested in children’s pretend play and is an important part of adults’ ability to process the past, and to plan the future. A first step in the development of imagination is the ability to represent objects and events and to change these representations into alternatives to reality. For adap

Liquid chromatography-tandem mass spectrometry assay for the quantification of free and total sialic acid in human cerebrospinal fluid

Background: Analysis of sialic acid (SA) metabolites in cerebrospinal fluid (CSF) is important for clinical diagnosis. In the present study, a high-performance liquid chromatography-tandem mass spectrometry (HPLC/MS/MS) method for free sialic acid (FSA) and total sialic acid (TSA) in human CSF was validated. Methods: The method utilized a simple sample-preparation procedure of protein precipitatio

The human cationic antimicrobial protein (hCAP18), a peptide antibiotic, is widely expressed in human squamous epithelia and colocalizes with interleukin-6

Peptide antibiotics are widespread in nature and, by providing a rapid first line of defense, may be key players in the innate immune system. Although epithelia are the main barriers shielding the internal environment from microorganisms, the role for peptide antibiotics in epithelial protection is unclear. We recently reported that the human cationic antimicrobial protein hCAP18, the precursor of

Glucose-6-phosphate dehydrogenase deficiency genotypes and allele frequencies in the Kavango and Zambezi regions of northern Namibia

Background: Namibia has made significant gains in the fight against malaria, with a target of elimination by 2023. We examined the genotype and allele frequencies of glucose-6-phosphate dehydrogenase (G6PD) deficiency to inform decisions on primaquine use, as we recently detected clusters of Plasmodium ovale curtisi in Kavango. Methods: A multistaged cross-sectional sampling method was used to enr

Undifferentiated pleomorphic sarcomas with PRDM10 fusions have a distinct gene expression profile

Undifferentiated pleomorphic sarcoma (UPS) is a highly aggressive soft tissue tumor. A subset of UPS is characterized by a CITED2–PRDM10 or a MED12–PRDM10 gene fusion. Preliminary data suggest that these so-called PRDM10-rearranged tumors (PRT) are clinically more indolent than classical high-grade UPS, and hence important to recognize. Here, we assessed the spectrum of accompanying mutations and

Impact of spring rape varieties on protein extraction from press cake, emulsifying properties and antinutrient content

BACKGROUND: Rapeseed is the second most cultivated oilseed globally after soybean and a protein-rich press cake is generated after liberation of the oil. However, its use in food applications is limited by high levels of anti-nutrients such as glucosinolates and phytic acid. Although differences between botanical varieties are known, controlled comparisons of modern spring varieties for protein fu

Auriga Streams III : the mass–metallicity relation does not rule out tidal mass-loss in Local Group satellites

The mass–metallicity relation is a fundamental galaxy scaling law that has been extended to the faintest systems in the Local Group. We show that the small scatter in this relation, which has been used to argue against tidal mass-loss in Local Group satellites, is consistent with the level of disruption in the Auriga simulations. For every accreted system in Auriga, we compute stellar masses and m

Intradermal Delivery of TLR Agonists in a Human Explant Skin Model: Preferential Activation of Migratory Dendritic Cells by Polyribosinic-Polyribocytidylic Acid and Peptidoglycans

TLR agonists are attractive candidate adjuvants for therapeutic cancer vaccines as they can induce a balanced humoral and T cell-mediated immune response. With a dense network of dendritic cells (DCs) and draining lymphatics, the skin provides an ideal portal for vaccine delivery. Beside direct DC activation, TLR agonists may also induce DC activation through triggering the release of inflammatory

ARID1a Associates with Lymphoid-Restricted Transcription Factors and Has an Essential Role in T Cell Development

Maturation of lymphoid cells is controlled by the action of stage and lineage-restricted transcription factors working in concert with the general transcription and chromatin remodeling machinery to regulate gene expression. To better understand this functional interplay, we used Biotin Identification in human embryonic kidney cells to identify proximity interaction partners for GATA3, TCF7 (TCF1)

Recognition of maturity-onset diabetes of the young in China

Aims/Introduction: Given that mutations related to maturity-onset diabetes of the young (MODY) are rarely found in Chinese populations, we aim to characterize the mutation spectrum of MODY pedigrees. Materials and Methods: Maturity-onset diabetes of the young candidate gene- or exome-targeted capture sequencing was carried out in 76 probands from unrelated families fulfilling the clinical diagnost

Influenza A facilitates sensitization to house dust mite in infant mice leading to an asthma phenotype in adulthood

The origins of allergic asthma, particularly in infancy, remain obscure. Respiratory viral infections and allergen sensitization in early life have been associated with asthma in young children. However, a causal link has not been established. We investigated whether an influenza A infection in early life alters immune responses to house dust mite (HDM) and promotes an asthmatic phenotype later in

Resident and pro-inflammatory macrophages in the colon represent alternative context-dependent fates of the same Ly6C(hi) monocyte precursors

Macrophages (m phi) are essential for intestinal homeostasis and the pathology of inflammatory bowel disease (IBD), but it is unclear whether discrete m phi populations carry out these distinct functions or if resident m phi change during inflammation. We show here that most resident m phi in resting mouse colon express very high levels of CX3CR1, are avidly phagocytic and MHCII hi, but are resist

A dose-dependent role for EBF1 in repressing non-B-cell-specific genes

In the absence of early B-cell factor 1 (EBF1), B-cell development is arrested at an uncommitted progenitor stage that exhibits increased lineage potentials. Previously, we investigated the roles of EBF1 and its DNA-binding partner Runx1 by evaluating B lymphopoiesis in single (EBF1(het) and Runx1(het)) and compound haploinsufficent (Ebf1(+/-) Runx1(+/-), ERhet) mice. Here, we demonstrate that dec

Antibodies to influenza virus A/H1N1 hemagglutinin in type 1 diabetes children diagnosed before, during and after the Swedish A(H1N1)pdm09 vaccination campaign 2009-2010.

We determined A/H1N1-HA antibodies in relation to HLA-DQ genotypes and islet autoantibodies at clinical diagnosis in 1141 incident 0.7-18 years old type 1 diabetes patients diagnosed April 2009 - December 2010. Antibodies to (35) S-methionine-labeled A/H1N1 hemagglutinin were determined in a radiobinding assay in patients diagnosed before (n=325), during (n=355) and after (n=461) the October 2009

Studies on Factivity, Complementation, and Propositional Attitudes

This dissertation is a collection of seven papers in which a number of questions are investigated regarding verbs that take a sentential complement as their direct object. These verbs are considered from different perspectives, namely from the perspective of the propositional attitude they express, or from the perspective of the syntactic construction they select, or from the point of view of the

Wnt5a induces a tolerogenic phenotype of macrophages in sepsis and breast cancer patients.

A well-orchestrated inflammatory reaction involves the induction of effector functions and, at a later stage, an active downregulation of this potentially harmful process. In this study we show that under proinflammatory conditions the noncanonical Wnt protein, Wnt5a, induces immunosuppressive macrophages. The suppressive phenotype induced by Wnt5a is associated with induction of IL-10 and inhibit

Water Accommodation on Ice and Organic Surfaces: Insights from Environmental Molecular Beam Experiments

Water uptake on aerosol and cloud particles in the atmosphere modifies their chemistry and microphysics with important implications for climate on Earth. Here, we apply an environmental molecular beam (EMB) method to characterize water accommodation on ice and organic surfaces. The adsorption of surface-active compounds including short-chain alcohols, nitric acid, and acetic acid significantly aff

Sample Size in Clinical Cardioprotection Trials Using Myocardial Salvage Index, Infarct Size, or Biochemical Markers as Endpoint.

Cardiac magnetic resonance (CMR) can quantify myocardial infarct (MI) size and myocardium at risk (MaR), enabling assessment of myocardial salvage index (MSI). We assessed how MSI impacts the number of patients needed to reach statistical power in relation to MI size alone and levels of biochemical markers in clinical cardioprotection trials and how scan day affect sample size.