Call for Applications: Research Seed Money Grant for APS Type 1 (Autoimmune Polyglandular Syndrome Type 1)

Call for Applications: Research Seed Money Grant for APS Type 1 (Autoimmune Polyglandular Syndrome Type 1) National Organization for Rare Disorders (NORD), with APS Type 1.org, Announces Research Seed Money Grant (up to $100,000) for APS Type 1 (Autoimmune Polyglandular Syndrome Type 1) Abstract Submission Deadline:  July 10, 2014 NORD, with funding raised in coordination with the patient organization, , is accepting applications for a two-year grant, for a total of $100,000, to conduct a scientific and/or clinical research study related to APS Type 1. Also known as autoimmune polyglandular syndrome, type 1, APS Type 1 is a very rare hereditary disorder that strikes children and adults younger than 35 years of age. It presents as a combination of hypoparathyroidism (below-normal functioning of the parathyroid glands) and adrenal gland insufficiency, accompanied by frequent fungal infections (candidiasis) of the mucous membranes and nails. There may also be T-cell abnormalities and other immune system dysfunction. The abnormally low hormone production caused by APS Type 1 can lead to life-threatening consequences. APS Type 1 appears to be caused by mutations of a single gene, called the AIRE (“autoimmune regulator”) gene, and is the result of autosomal recessive genetic transmission. Currently, treatment consists of careful monitoring and replacement of hormones. Research Objectives The purpose of the NORD Research Grant Program is to encourage merit...
Source: ScanGrants feed - Category: Research Authors: Source Type: funding

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Regulatory B cells (Bregs) are a B cell subset that plays a suppressive role in immune responses. The CD19+CD1dhiCD5+ Bregs that can execute regulatory functions via secreting IL-10 are defined as B10 cells. Bregs suppress autoimmune and inflammatory diseases, whereas they exacerbate infectious diseases caused by bacteria, viruses, or parasites. Notably, the molecular mechanisms regulating the development and functions of Bregs are still largely unknown. Furthermore, the biological impact of Bregs in fungal infection has not yet been demonstrated. Here, we compared the gene expression profiles of IL-10-producing and -nonpr...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
ConclusionExome sequencing as a first-tier test for PIDs granted a diagnosis for 28% of patients. Importantly, molecularly defined diagnoses indicated altered therapeutic options in 34% of cases. In addition, exome sequencing harbors advantages over gene panels as a truly generic test for all genetic diseases, including in silico extension of existing gene lists and re-analysis of existing data.
Source: Genome Medicine - Category: Genetics & Stem Cells Source Type: research
Discussion Facial nerve palsy has been known for centuries, but in 1821 unilateral facial nerve paralysis was described by Sir Charles Bell. Bell’s palsy (BP) is a unilateral, acute facial paralysis that is clinically diagnosed after other etiologies have been excluded by appropriate history, physical examination and/or laboratory testing or imaging. Symptoms include abnormal movement of facial nerve. It can be associated with changes in facial sensation, hearing, taste or excessive tearing. The right and left sides are equally affected but bilateral BP is rare (0.3%). Paralysis can be complete or incomplete at prese...
Source: PediatricEducation.org - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news
Primary immunodeficiencies affecting the function of neutrophils and other phagocytic leukocytes are notable for an increased susceptibility to bacterial and fungal infections as a result of impaired leukocyte recruitment, ingestion, and/or killing of microbes. The underlying molecular defects can also impact other innate immune responses to infectious and inflammatory stimuli, leading to inflammatory and autoimmune complications that are not always directly related to infection. This review will provide an update on congenital disorders affecting neutrophil function in which a combination of host defense and inflammatory ...
Source: Blood - Category: Hematology Authors: Tags: Immunobiology and Immunotherapy, Phagocytes, Granulocytes, and Myelopoiesis, Review Articles, Review Series Source Type: research
Giuseppe Ristagno1*, Francesca Fumagalli1, Barbara Bottazzi2, Alberto Mantovani2,3,4, Davide Olivari1, Deborah Novelli1 and Roberto Latini1 1Department of Cardiovascular Research, Mario Negri Institute for Pharmacological Research IRCCS, Milan, Italy 2Humanitas Clinical and Research Center-IRCCS, Milan, Italy 3Humanitas University, Milan, Italy 4The William Harvey Research Institute, Queen Mary University of London, London, United Kingdom The long pentraxin PTX3 is a member of the pentraxin family produced locally by stromal and myeloid cells in response to proinflammatory signals and microbial moieties. The p...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
Conclusions OCB are important biomarkers that can support MRI diagnostics and help to avoid false-positive MS diagnoses. Therefore, the revised McDonalds criteria have increased the importance of the OCB. New biomarkers such as AQP4 have now established themselves in clinical practice, and others such as Anti-MOG and NfL are about to enter clinical routine. An important focus in the search for new biomarkers is the monitoring of therapy efficacy and the prediction of severe side effects. Many other CSF molecules such as CHI3L1, IL-6, or CXCL13 show potential as markers for clinical practice, but further research is nee...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
Conclusion: IL-2 receptor expression demonstrated the highest diagnostic accuracy, while the peripheral eosinophil count was the only marker tested in more than one study. Presently, liver biopsy remains superior to noninvasive diagnostic biomarkers as most studies exhibited inferior designs, hindering possible translation into clinical application. Introduction Liver transplantation (LT) exhibits 20-year survival rates of up to 50% (1) and is of great clinical importance. LT is the treatment of choice for acute or acute-on-chronic liver failure, while organ replacement therapies are still waiting for the break (2)...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
​Seventy-five percent of trauma injuries involve some kind of thoracic insult, a quarter of which need a procedural intervention like a chest tube. (Surg Clin North Am 2007;87[1]:95; http://bit.ly/2HaoX90.) Long-term illness, lung disease, and post-operative complications may cause pleural effusions or a pneumothorax, so treating these conditions quickly can significantly decrease patient morbidity and mortality. Other indications for chest tube placement include:Trauma: Pneumothorax, hemopneumothorax, or tension pneumothoraxLong-term illness: Pleural effusion (cancer, pneumonia)Infection: Empyema, purulent pleuriti...
Source: The Procedural Pause - Category: Emergency Medicine Tags: Blog Posts Source Type: blogs
Abstract The oral cavity is a unique environment containing teeth juxtaposed with soft tissues, all of which are constantly bathed in microbial products and host-derived factors. While microbial dysbiosis in the oral cavity clearly leads to oral inflammatory disease, recent advances find that endogenous danger-associated molecular patterns (DAMPs) released from oral and salivary tissue also contribute to the progression of inflammatory and autoimmune disease, respectively. In contrast, DAMPs produced during oral fungal infection actually promote the resolution of infection. Here, we present a review of the literat...
Source: Journal of Leukocyte Biology - Category: Hematology Authors: Tags: J Leukoc Biol Source Type: research
Authors: Li PC, Yang XS, Li WY Abstract Invasive fungal disease (IFV) has a high incidence among autoimmune disease patients who have poor immunity. Diagnosis of IFD is difficult in the early stage. Conventional imaging technologies are poor in sensitivity, specificity and detection rate, therefore, an effective method is needed for improving the diagnosis of autoimmune disease complicated with IFD. To study the benefits of galactomannan testing in the diagnosis of IFD, 256 patients who were diagnosed with autoimmune disease in our hospital between December 2014 and December 2016, and who developed pulmonary infect...
Source: Journal of Biological Regulators and Homeostatic Agents - Category: Biomedical Science Tags: J Biol Regul Homeost Agents Source Type: research
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