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Primary immune deficiency

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https://www.readbyqxmd.com/read/29330115/pediatric-onset-evans-syndrome-heterogeneous-presentation-and-high-frequency-of-monogenic-disorders-including-lrba-and-ctla4-mutations
#1
Caroline Besnard, Eva Levy, Nathalie Aladjidi, Marie-Claude Stolzenberg, Aude Magerus-Chatinet, Olivier Alibeu, Patrick Nitschke, Stéphane Blanche, Olivier Hermine, Eric Jeziorski, Judith Landman-Parker, Guy Leverger, Nizar Mahlaoui, Gérard Michel, Isabelle Pellier, Felipe Suarez, Isabelle Thuret, Geneviève de Saint-Basile, Capucine Picard, Alain Fischer, Bénédicte Neven, Frédéric Rieux-Laucat, Pierre Quartier
Evans syndrome (ES) is defined by the combination of autoimmune hemolytic anemia and immune thrombocytopenia. Clinical presentation includes manifestations of immune dysregulation, found in primary immune deficiencies, autoimmune lymphoproliferative syndrome with FAS (ALPS-FAS), Cytotoxic T Lymphocyte Antigen-4 (CTLA-4) and Lipopolysaccharide-Responsive vesicle trafficking Beige-like and Anchor protein (LRBA) defects. We report the clinical history and genetic results of 18 children with ES after excluding ALPS-FAS...
January 9, 2018: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/29316339/reply-x-chromosome-short-arm-involvement-in-autoimmune-diseases-comment-on-the-report-by-sharma-et-al
#2
R Hal Scofield, Rohan Sharma, Valerie M Harris
Studying Klinefelter's syndrome (male 47,XXY) and triple X (female 4,7XXX), we propose that the number of X chromosomes mediates the female bias of systemic lupus erythematosus (SLE) and Sjögren's syndrome (SS). Our recent paper described SLE and SS patients with extremely rare X chromosome aneuploides in which distal Xp was triplicated, implicating genes lying on the short arm of X1 . Brooks points out that X-linked chronic granulomatosus disease (X-CGD) can also have gene duplication from Xp21.2 to Xp terminus, and some female carriers of X-CDG have a cutaneous lupus-like illness...
January 5, 2018: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/29307770/a-young-girl-with-severe-cerebral-fungal-infection-due-to-card-9-deficiency
#3
Pinar Gur Cetinkaya, Deniz Cagdas Ayvaz, Betül Karaatmaca, Rahsan Gocmen, Figen Söylemezoğlu, Wayne Bainter, Janet Chou, Talal A Chatila, Ilhan Tezcan
Pattern recognition receptors (PRRs), receptors of the innate immune system, are important in interaction with pathogens. Caspase Recruitment Domain-containing protein 9 (CARD9), a member of PRRs, is an intracellular adaptor protein important in fungal defense. CARD9 deficiency causes a rare primary immunodeficiency (PID) characterized by superficial and deep fungal infections. We report a 17year-old female with a homozygous nonsense mutation in CARD9, who presented with severe cerebral fungal infection of the central nervous system...
January 4, 2018: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/29259605/role-of-monocyte-macrophages-during-hiv-siv-infection-in-adult-and-pediatric-acquired-immune-deficiency-syndrome
#4
REVIEW
Kristen M Merino, Carolina Allers, Elizabeth S Didier, Marcelo J Kuroda
Monocytes/macrophages are a diverse group of cells that act as first responders in innate immunity and then as mediators for adaptive immunity to help clear infections. In performing these functions, however, the macrophage inflammatory responses can also contribute to pathogenesis. Various monocyte and tissue macrophage subsets have been associated with inflammatory disorders and tissue pathogeneses such as occur during HIV infection. Non-human primate research of simian immunodeficiency virus (SIV) has been invaluable in better understanding the pathogenesis of HIV infection...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/29249625/genetic-disorders-of-gh-action-pathway
#5
Horacio M Domené, Gustavo Fierro-Carrión
While insensitivity to GH (GHI) is characterized by low IGF-I levels, normal or elevated GH levels, and lack of IGF-I response to GH treatment, IGF-I resistance is characterized by elevated IGF-I levels with normal/high GH levels. Several genetic defects are responsible for impairment of GH and IGF-I actions resulting in short stature that could affect intrauterine growth or be present in the postnatal period. The genetic defects affecting GH and/or IGF-I action can be divided into five different groups: GH insensitivity by defects affecting the GH receptor (GHR), the intracellular GH signaling pathway (STAT5B, STAT3, IKBKB, IL2RG, PIK3R1), the synthesis of insulin-like growth factors (IGF1, IGF2), the transport/bioavailability of IGFs (IGFALS, PAPPA2), and defects affecting IGF-I sensitivity (IGF1R)...
December 12, 2017: Growth Hormone & IGF Research
https://www.readbyqxmd.com/read/29248323/staphylococcal-scalded-skin-syndrome-an-uncommon-symptomatology-revealing-an-immune-deficiency
#6
H Ajmi, N Jemmali, S Mabrouk, S Hassayoun, M Ben-Ali, M-R Barbouche, M Mokni, S Abroug
Primary immune deficiencies associated with hyper-IgE syndrome are rare diseases with clinical features dominated by recurring cutaneous and visceral bacterial infections, particularly infections due to Staphylococcus species. Most of these infections are associated with milder inflammation compared to normal. We report a primary immune deficiency associated with a hyper-IgE syndrome revealed by a staphylococcal scalded skin syndrome in a 5-year-old girl. The patient presented with a severe staphylococcal infection with extensive skin lesions and disseminated intravascular coagulation...
December 13, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/29236713/sirt3-deficiency-does-not-affect-venous-thrombosis-or-netosis-despite-mild-elevation-of-intracellular-ros-in-platelets-and-neutrophils-in-mice
#7
Hideki Hayashi, Deya Cherpokova, Kimberly Martinod, Thilo Witsch, Siu Ling Wong, Maureen Gallant, Stephen M Cifuni, Leonard P Guarente, Denisa D Wagner
Inflammation is a common denominator in chronic diseases of aging. Yet, how inflammation fuels these diseases remains unknown. Neutrophils are the primary leukocytes involved in the early phase of innate immunity and inflammation. As part of their anti-microbial defense, neutrophils form extracellular traps (NETs) by releasing decondensed chromatin lined with cytotoxic proteins. NETs have been shown to induce tissue injury and thrombosis. Here, we demonstrated that Sirt3, a nicotinamide adenine dinucleotide (NAD+)-dependent protein deacetylase, an enzyme linked to human longevity, was expressed in mouse neutrophils and platelets...
2017: PloS One
https://www.readbyqxmd.com/read/29234503/study-protocol-for-a-phase-ii-dose-evaluation-randomized-controlled-trial-of-cholecalciferol-in-critically-ill-children-with-vitamin-d-deficiency-vitdal-picu-study
#8
Dayre McNally, Karin Amrein, Katharine O'Hearn, Dean Fergusson, Pavel Geier, Matt Henderson, Ali Khamessan, Margaret L Lawson, Lauralyn McIntyre, Stephanie Redpath, Hope A Weiler, Kusum Menon
Background: Clinical research has recently demonstrated that vitamin D deficiency (VDD) is highly prevalent in the pediatric intensive care unit (PICU) and associated with worse clinical course. Multiple adult ICU trials have suggested that optimization of vitamin D status through high-dose supplementation may reduce mortality and improve other clinically relevant outcomes; however, there have been no trials of rapid normalization in the PICU setting. The objective of this study is to evaluate the safety and efficacy of an enteral weight-based cholecalciferol loading dose regimen in critically ill children with VDD...
2017: Pilot and Feasibility Studies
https://www.readbyqxmd.com/read/29229095/primary-immune-deficiency-diseases-as-unrecognized-causes-of-chronic-respiratory-disease
#9
REVIEW
Melvin Berger, Bob Geng, D William Cameron, Ladonna M Murphy, Edward S Schulman
BACKGROUND: More than half of all primary immune deficiency diseases (PIDD) affect antibody production and are well known as causes of recurrent sinusitis and lung infections. Chronic and recurrent infections of the upper and/or lower airways can contribute to inflammatory and obstructive processes in the lower airways which are initially reversible and considered "asthma", but can eventually cause irreversible remodeling and chronic obstructive pulmonary disease (COPD). Conversely, several lines of evidence suggest that many patients who present with a diagnosis of asthma have an increased incidence of infection, suggesting underlying host-defense defects...
November 2017: Respiratory Medicine
https://www.readbyqxmd.com/read/29223537/rankl-signaling-sustains-primary-tumor-growth-in-genetically-engineered-mouse-models-of-lung-adenocarcinoma
#10
Julien Faget, Caroline Contat, Nadine Zangger, Solange Peters, Etienne Meylan
HYPOTHESIS: Non-small cell lung cancer (NSCLC) is the leading cause of cancer mortality. Recent retrospective clinical analyses suggest that blocking the receptor activator of NF-κB (RANK) signaling pathway inhibits the growth of NSCLC and might represent a new treatment strategy. METHODS: RANK and RANKL expression in human lung adenocarcinoma was interrogated from publicly available gene expression datasets. Several genetically engineered mouse models were used to evaluate treatment efficacy of RANK-Fc to block RANKL, with primary tumor growth measured longitudinally using micro-computed tomography...
December 6, 2017: Journal of Thoracic Oncology
https://www.readbyqxmd.com/read/29222479/gdf15-deficiency-exacerbates-chronic-alcohol-and-carbon-tetrachloride-induced-liver-injury
#11
Hyo Kyun Chung, Jung Tae Kim, Hyeon-Woo Kim, Minjoo Kwon, So Yeon Kim, Minho Shong, Koon Soon Kim, Hyon-Seung Yi
Growth differentiation factor 15 (GDF15) has recently been shown to have an important role in the regulation of mitochondrial function and in the pathogenesis of complex human diseases. Nevertheless, the role of GDF15 in alcohol-induced or fibrotic liver diseases has yet to be determined. In this study, we demonstrate that alcohol- or carbon tetrachloride (CCl4)-mediated hepatic GDF15 production ameliorates liver inflammation and fibrosis. Alcohol directly enhanced GDF15 expression in primary hepatocytes, which led to increased oxygen consumption...
December 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29213299/cervical-cancer-patients-presentation-and-survival-in-the-only-oncology-referral-hospital-ethiopia-a-retrospective-cohort-study
#12
Muluken Gizaw, Adamu Addissie, Sefonias Getachew, Wondimu Ayele, Israel Mitiku, Ulrike Moelle, Tigist Yusuf, Mathias Begoihn, Mathewos Assefa, Ahmedin Jemal, Eva Johanna Kantelhardt
Background: Women infected with Human Immune Deficiency Virus (HIV) are assumed to be at higher risk of developing Cervical Cancer (CC). This is due to a rapid progression of pre-invasive to invasive lesions. However, evidences suggest, due to the availability of antiretroviral therapy (ART) and care services; an improved survival and treatment outcome of CC patients (CCPs) with HIV infection is expected. Objective: The aim of this study is to examine the clinical characteristics and survival of of CCPs registered at the radiotherapy center of Tikur Anbessa Specialized Hospital (TASH), Addis Ababa University, Ethiopia...
2017: Infectious Agents and Cancer
https://www.readbyqxmd.com/read/29207798/does-vitamin-d-supplementation-improve-glycaemic-control-in-children-with-type-1-diabetes-mellitus-a-randomized-controlled-trial
#13
Shreya Sharma, Niranjan Biswal, Adhisivam Bethou, Medha Rajappa, Sadish Kumar, Vickneshwaran Vinayagam
Introduction: Vitamin D endocrine system is a potential immune system modulator and has been implicated in the pathogenesis of several autoimmune diseases including Type 1 Diabetes Mellitus (T1DM). Studies have demonstrated an inverse risk relationship between T1DM and Vitamin D levels and also, shown a reduced risk of the disease with its supplementation. Aim: To evaluate the role of Vitamin D as an adjuvant in improving glycaemic control and residual pancreatic beta-cell function...
September 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/29207757/vitamin-d-levels-and-associations-in-indian-patients-with-primary-sj%C3%A3-gren-s-syndrome
#14
Pulukool Sandhya, Gowri Mahasampath, Puneet Mashru, Joseph Dian Bondu, Victoria Job, Debashish Danda
Introduction: Vitamin D is a steroid hormone belonging to the class of secosteroids with myriad immune functions and has been implicated in aetiopathogenesis of various autoimmune diseases. Although, there have been various studies showing the association of vitamin D in rheumatoid arthritis and lupus in different populations, there have been limited studies on vitamin D and primary Sjögren's Syndrome (pSS). There are no studies on association of vitamin D and pSS from any tropical country including Indian subcontinent...
September 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/29198088/-efficacy-of-ivig-treatment-in-bronchiectasis-associated-with-igg-subclass-deficiency
#15
REVIEW
Yael Shostak, Mordechai R Kramer
Bronchiectasis is characterized by an abnormal dilatation of the bronchi leading to a chronic inflammatory process, airway blockage and impaired clearance of secretions. The damage to the airways is usually progressive and is the result of several pathogenic processes. In the past, healing of infections (especially pulmonary tuberculosis) was the main cause of airway dilatation and progression of chronic inflammation. Today, congenital illnesses, anatomical defects and immune deficiency play an important role in the pathogenesis of bronchiectasis formation...
November 2017: Harefuah
https://www.readbyqxmd.com/read/29181272/new-insights-in-the-use-of-immunoglobulins-for-the-management-of-immune-deficiency-pid-patients
#16
REVIEW
Gergely Krivan, Stephen Jolles, Eduardo Lopes Granados, Phillipe Paolantonacci, Rabye Ouaja, Ousmane Alfa Cissé, Ewa Bernatowska
Immunoglobulin replacement therapy (IRT) is standard treatment for patients with primary immunodeficiency (PID). Because most of the patients with PID will require long life-time immunoglobulin replacement therapy, the quality of the prescribed products is of utmost importance. The IRT is generally administered either intravenously (abbreviated IVIG), or subcutaneously (abbreviated SCIG). Both routes have been demonstrated to be effective. The preferred route may vary at different times during a given patient's life...
2017: American Journal of Clinical and Experimental Immunology
https://www.readbyqxmd.com/read/29180007/tyrosine-kinase-fyn-regulates-inos-expression-in-lps-stimulated-astrocytes-via-modulation-of-erk-phosphorylation
#17
Hyun Myung Ko, Sung Hoon Lee, Minji Bang, Ki Chan Kim, Se Jin Jeon, Yeong-Min Park, Seol-Heui Han, Hahn Young Kim, Jongmin Lee, Chan Young Shin
The high concentrations of nitric oxide (NO) produced by inducible nitric oxide synthase (iNOS) in activated glial cells in response to neuroinflammatory stimuli have neurotoxic effects on the brain. At basal levels, iNOS expression is low, and proinflammatory stimuli induce iNOS expression in astrocytes, microglia, and oligodendrocytes. Fyn, a non-receptor tyrosine kinase, regulates iNOS expression in several types of immune cells. However, its role in stimulated astrocytes is less clear. In this study, we investigated the role of Fyn in the regulation of lipopolysaccharide (LPS)-induced iNOS expression in astrocytes from mice and rats...
November 24, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29179771/paracrine-effects-of-human-amniotic-epithelial-cells-protect-against-chemotherapy-induced-ovarian-damage
#18
Qiuwan Zhang, Shixia Bu, Junyan Sun, Minhua Xu, Xiaofen Yao, Kunyan He, Dongmei Lai
BACKGROUND: Human amniotic epithelial cells (hAECs) are attractive candidates for regenerative medical therapy, with the potential to replace deficient cells and improve functional recovery after injury. Previous studies have demonstrated that transplantation of hAECs effectively alleviate chemotherapy-induced ovarian damage via inhibiting granulose cells apoptosis in animal models of premature ovarian failure/insufficiency (POF/POI). However, the underlying molecular mechanism accounting for hAECs-mediated ovarian function recovery is not fully understood...
November 28, 2017: Stem Cell Research & Therapy
https://www.readbyqxmd.com/read/29176972/interleukin-4-receptor-alpha-from-innate-to-adaptive-immunity-in-murine-models-of-cutaneous-leishmaniasis
#19
REVIEW
Ramona Hurdayal, Frank Brombacher
The interleukin (IL)-4 receptor alpha (IL-4Rα), ubiquitously expressed on both innate and adaptive immune cells, controls the signaling of archetypal type 2 immune regulators; IL-4 and IL-13, which elicit their signaling action by the type 1 IL-4Rα/gamma common and/or the type 2 IL-4Rα/IL-13Rα complexes. Global gene-deficient mouse models targeting IL-4, IL-13, or the IL-4Rα chain, followed by the development of conditional mice and generation of important cell-type-specific IL-4Rα-deficient mouse models, were indeed critical to gaining in-depth understanding of detrimental T helper (Th) 2 mechanisms in type 1-controlled diseases...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/29176466/the-challenge-of-next-generation-sequencing-in-a-boy-with-severe-mononucleosis-and-ebv-related-lymphoma
#20
Federico Verzegnassi, Erica Valencic, Valentina Kiren, Nagua Giurici, Anna Monica Bianco, Annalisa Marcuzzi, Diego Vozzi, Alberto Tommasini, Flavio Faletra
A severe course of infectious mononucleosis should always lead up to the suspicion of a primary immunodeficiency. We describe the case of a boy with severe mononucleosis accompanied by the development of hemophagocytic lymphohistiocytosis and lymphoma. By whole exome sequencing, we identified a mutation of uncertain significance in CTPS2, a gene closely related to CTPS1, which is involved in a primary immune deficiency with susceptibility to herpesviruses. We discuss the challenge of a correct interpretation of data from whole exome sequencing, questioning whether the CTPS2 variant found in our patient is just an incidental finding or a mutation with variable penetrance...
November 23, 2017: Journal of Pediatric Hematology/oncology
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