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https://www.readbyqxmd.com/read/29777376/comprehensive-molecular-diagnosis-of-epstein-barr-virus-associated-lymphoproliferative-diseases-using-next-generation-sequencing
#1
Shintaro Ono, Manabu Nakayama, Hirokazu Kanegane, Akihiro Hoshino, Saeko Shimodera, Hirofumi Shibata, Hisanori Fujino, Takahiro Fujino, Yuta Yunomae, Tsubasa Okano, Motoi Yamashita, Takahiro Yasumi, Kazushi Izawa, Masatoshi Takagi, Kohsuke Imai, Kejian Zhang, Rebecca Marsh, Capucine Picard, Sylvain Latour, Osamu Ohara, Tomohiro Morio
Epstein-Barr virus (EBV) is associated with several life-threatening diseases, such as lymphoproliferative disease (LPD), particularly in immunocompromised hosts. Some categories of primary immunodeficiency diseases (PIDs) including X-linked lymphoproliferative syndrome (XLP), are characterized by susceptibility and vulnerability to EBV infection. The number of genetically defined PIDs is rapidly increasing, and clinical genetic testing plays an important role in establishing a definitive diagnosis. Whole-exome sequencing is performed for diagnosing rare genetic diseases, but is both expensive and time-consuming...
May 18, 2018: International Journal of Hematology
https://www.readbyqxmd.com/read/29775036/consensus-on-updating-immunizations-in-patients-with-primary-immunodeficiencies
#2
(no author information available yet)
No abstract text is available yet for this article.
April 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29761739/efficacy-safety-and-quality-of-life-in-patients-receiving-subcutaneous-igg-treatment-experience-in-bogot%C3%A3-colombia
#3
María Claudia Ortega-López, Javier Garay, Mónica León Pinilla
AIM: Investigate efficacy, safety and quality of life of gammanorm® 16.5% (subcutaneous immunoglobulin [SCIG]) in patients with primary immunodeficiencies (PIDs) and safety and to lesser extent efficacy in autoimmune diseases. PATIENTS & METHODS: Medical records were extracted from 31 pediatric and 12 adult patients who received SCIG as part of the Personalized Program at University Children's Hospital, Bogotá, Colombia. RESULTS: Mean SCIG dose was 28...
May 15, 2018: Immunotherapy
https://www.readbyqxmd.com/read/29755533/new-onset-colitis-in-an-adult-patient-with-chronic-granulomatous-disease-treated-with-hematopoietic-stem-cell-transplantation-a-diagnostic-dilemma
#4
Kara Robertson, Stephen Couban, Desmond Leddin, Imran Ahmad, Lori Connors
Background: Chronic granulomatous disease (CGD) is a rare primary immunodeficiency characterized by recurrent life-threatening bacterial and fungal infections, granuloma formation and intestinal disease. This disease is caused by defects in NADPH oxidase, which result in the inability of phagocytes (neutrophils, monocytes and macrophages) to destroy certain microbes. The only established curative therapy for CGD is hematopoietic stem cell transplantation. Case presentation: A 23-year-old Caucasian male with X-linked chronic granulomatous disease underwent a reduced-intensity conditioning, matched unrelated donor peripheral blood stem cell transplant, after which he was started on tacrolimus and mycophenolate for graft-versus-host disease prophylaxis...
2018: Allergy, Asthma, and Clinical Immunology
https://www.readbyqxmd.com/read/29754192/gastrointestinal-disorders-associated-with-primary-immunodeficiency-diseases
#5
REVIEW
Stella Hartono, Michelina Rosa Ippoliti, Maria Mastroianni, Ricardo Torres, Nicholas L Rider
There are now 354 inborn errors of immunity (primary immunodeficiency diseases (PIDDs)) with 344 distinct molecular etiologies reported according to the International Union of Immunological Sciences (IUIS) (Clin Gastroenterol Hepatol 11: p. 1050-63, 2013, Semin Gastrointest Dis 8: p. 22-32, 1997, J Clin Immunol 38: p. 96-128, 2018). Using the IUIS document as a reference and cross-checking PubMed ( www.ncbi.nlm.nih.pubmed.gov ), we found that approximately one third of the 354 diseases of impaired immunity have a gastrointestinal component [J Clin Immunol 38: p...
May 13, 2018: Clinical Reviews in Allergy & Immunology
https://www.readbyqxmd.com/read/29753156/antiviral-t-cells-for-adenovirus-in-the-pre-transplant-period-a-bridge-therapy-for-severe-combined-immunodeficiency
#6
Holly K Miller, Patrick J Hanley, Haili Lang, Christopher A Lazarski, Elizabeth A Chorvinsky, Sarah McCormack, Lauren Roesch, Shuroug Albihani, Marcus Dean, Fahmida Hoq, Roberta H Adams, Catherine Bollard, Michael D Keller
Viral infections can be life-threatening in patients with severe combined immunodeficiency (SCID) and other forms of profound primary immunodeficiency disorders both before and after hematopoietic stem cell transplant (HSCT). Adoptive immunotherapy with virus-specific T-cells (VST) has been utilized in many patients in the setting of HSCT, but has very rarely been attempted for treatment of viral infections before HSCT. Here we describe the use of VSTs in an infant with RAG1 SCID who had developed disseminated adenovirus which failed to improve on cidofovir...
May 9, 2018: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/29746681/prevention-of-infectious-complications-in-patients-with-chronic-granulomatous-disease
#7
Maria A Slack, Isaac P Thomsen
Chronic granulomatous disease (CGD) is a primary immunodeficiency that confers a markedly increased risk of bacterial and fungal infections caused by certain opportunistic pathogens. Current evidence supports the use of prophylactic antibacterial, antifungal, and immunomodulatory therapies designed to prevent serious or life-threatening infections in patients with CGD. In this review, we discuss current strategies for the prevention of infections in children and adults with CGD and the evidence that supports those strategies...
May 9, 2018: Journal of the Pediatric Infectious Diseases Society
https://www.readbyqxmd.com/read/29746679/noninfectious-manifestations-and-complications-of-chronic-granulomatous-disease
#8
Sarah E Henrickson, Artemio M Jongco, Kelly F Thomsen, Elizabeth K Garabedian, Isaac P Thomsen
Chronic granulomatous disease (CGD), a primary immunodeficiency characterized by a deficient neutrophil oxidative burst and the inadequate killing of microbes, is well known to cause a significantly increased risk of invasive infection. However, infectious complications are not the sole manifestations of CGD; substantial additional morbidity is driven by noninfectious complications also. These complications can include, for example, a wide range of inflammatory diseases that affect the gastrointestinal tract, lung, skin, and genitourinary tract and overt autoimmune disease...
May 9, 2018: Journal of the Pediatric Infectious Diseases Society
https://www.readbyqxmd.com/read/29746675/chronic-granulomatous-disease-epidemiology-pathophysiology-and-genetic-basis-of-disease
#9
N L Rider, M B Jameson, C B Creech
Chronic Granulomatous Disease is one of the classic primary immunodeficiencies of childhood. While the incidence and severity of bacterial and fungal infections have been greatly reduced in this patient population, much remains to be learned about the pathophysiology of the disease, particularly for autoinflammatory manifestations. In this review, we examine the epidemiology, pathophysiology, and genetic basis for CGD.
May 9, 2018: Journal of the Pediatric Infectious Diseases Society
https://www.readbyqxmd.com/read/29746674/considerations-in-the-diagnosis-of-chronic-granulomatous-disease
#10
Joyce E Yu, Antoine E Azar, Hey J Chong, Artemio M Jongco, Benjamin T Prince
Chronic granulomatous disease (CGD) is a rare primary immunodeficiency that is caused by defects in the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex. The disease presents in most patients initially with infection, especially of the lymph nodes, lung, liver, bone, and skin. Patients with CGD are susceptible to a narrow spectrum of pathogens, and Staphylococcus aureus, Burkholderia cepacia complex, Serratia marcescens, Nocardia species, and Aspergillus species are the most common organisms implicated in North America...
May 9, 2018: Journal of the Pediatric Infectious Diseases Society
https://www.readbyqxmd.com/read/29744952/individualized-immunoglobulin-treatment-in-pediatric-patients-with-primary-humoral-immunodeficiency-disease
#11
REVIEW
Niraj C Patel
Primary immunodeficiency diseases (PIDD) are a group of genetic conditions that are generally considered to be underdiagnosed, and gaps may exist in the knowledge of treatment options. This review focuses on the diagnosis of pediatric patients with primary antibody deficiency and considerations for treatment with immunoglobulin (IgG) to optimize multiple dosing variables and minimize adverse events. The possibility of individualizing IgG therapy in clinical practice represents, in this field, the next pivotal step with the goal of improving the quality of life of pediatric patients with PIDD...
May 9, 2018: Pediatric Allergy and Immunology
https://www.readbyqxmd.com/read/29744787/ada-deficiency-evaluation-of-the-clinical-and-laboratory-features-and-the-outcome
#12
Deniz Cagdas, Pınar Gur Cetinkaya, Betül Karaatmaca, Saliha Esenboga, Cagman Tan, Togay Yılmaz, Ersin Gümüş, Safa Barış, Barış Kuşkonmaz, Tuba Turul Ozgur, Pawan Bali, Ines Santisteban, Diclehan Orhan, Aysel Yüce, Duygu Cetinkaya, Kaan Boztug, Michael Hershfield, Ozden Sanal, İlhan Tezcan
INTRODUCTION: Adenosine deaminase (ADA) deficiency is an autosomal recessive primary immunodeficiency. It results in the intracellular accumulation of toxic metabolites which have effects particularly on lymphocytes and the brain. The aim of this study was to evaluate the outcome of 13 ADA-deficient patients. We planned to evaluate their clinical and laboratory findings before and after enzyme replacement therapy (ERT), allogeneic hematopoietic stem cell transplantation (aHSCT), and hematopoietic stem cell gene therapy (HSCGT)...
May 9, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29744770/global-report-on-primary-immunodeficiencies-2018-update-from-the-jeffrey-modell-centers-network-on-disease-classification-regional-trends-treatment-modalities-and-physician-reported-outcomes
#13
Vicki Modell, Jordan S Orange, Jessica Quinn, Fred Modell
Primary immunodeficiencies (PI) are genetic defects of the immune system that result in chronic, serious, and often life-threatening infections, if not diagnosed and treated. Many patients with PI are undiagnosed, underdiagnosed, or misdiagnosed. In fact, recent studies have shown that PI may be more common than previously estimated and that as many as 1% of the population may be affected with a PI when all types and varieties are considered. In order to raise awareness of PI with the overall goal of reducing associated morbidity and mortality, the Jeffrey Modell Foundation (JMF) established a network of specialized centers that could better identify, diagnose, treat, and follow patients with PI disorders...
May 9, 2018: Immunologic Research
https://www.readbyqxmd.com/read/29741690/severe-multisystem-involvement-of-chronic-granulomatous-disease-in-a-pediatric-patient
#14
Zuhal Bayramoglu, Ibrahim Adaletli, Emine Caliskan, Manolya Acar, Selda Hancerli Torun, Ayper Somer
Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder identified by recurrent pyogenic and fungal infections infections secondary to defective nicotinamide adenine dinucleotide phosphate oxidase enzyme. In the present study, we demonstrated a case with a history of multiple segmental lung resections because of invasive bronchopulmonary aspergillosis, multifocal hepatic and splenic granulomas, bilateral adnexal calcific foci presumed to be related with old granulomatous infection and finally gastric outlet obstruction secondary to the involvement of the stomach wall thickening with granulomatous tissue...
May 7, 2018: Journal of Tropical Pediatrics
https://www.readbyqxmd.com/read/29739685/b-cell-subsets-imbalance-and-reduced-expression-of-cd40-in-ataxia-telangiectasia-patients
#15
C T M Pereira, D C Bichuetti-Silva, N V F da Mota, R Salomão, M K C Brunialti, B T Costa-Carvalho
BACKGROUND: Ataxia-telangiectasia (AT) is a well-known primary immunodeficiency with recurrent sinopulmonary infections and variable abnormalities in both the humoral and cellular immune system. Dysfunctions in immunoglobulin production, reduced number of B cells, and B-cell receptor excision circles copies have been reported. We aimed to understand the immunological mechanisms involving the humoral compartment in AT patients by analysing peripheral blood B cells subsets, B-T lymphocyte cooperation through the expression of CD40 and CD40 ligand (CD40L), and cytokines involved in class-switch recombination production...
May 5, 2018: Allergologia et Immunopathologia
https://www.readbyqxmd.com/read/29731008/molecular-classification-of-primary-immunodeficiencies-of-t-lymphocytes
#16
William A Comrie, Michael J Lenardo
Proper regulation of the immune system is required for protection against pathogens and preventing autoimmune disorders. Inborn errors of the immune system due to inherited or de novo germline mutations can lead to the loss of protective immunity, aberrant immune homeostasis, and the development of autoimmune disease, or combinations of these. Forward genetic screens involving clinical material from patients with primary immunodeficiencies (PIDs) can vary in severity from life-threatening disease affecting multiple cell types and organs to relatively mild disease with susceptibility to a limited range of pathogens or mild autoimmune conditions...
2018: Advances in Immunology
https://www.readbyqxmd.com/read/29725107/compound-heterozygous-tyk2-mutations-underlie-primary-immunodeficiency-with-t-cell-lymphopenia
#17
Michiko Nemoto, Hiroyoshi Hattori, Naoko Maeda, Nobuhiro Akita, Hideki Muramatsu, Suzuko Moritani, Tomonori Kawasaki, Masami Maejima, Hirotaka Ode, Atsuko Hachiya, Wataru Sugiura, Yoshiyuki Yokomaku, Keizo Horibe, Yasumasa Iwatani
Complete tyrosine kinase 2 (TYK2) deficiency has been previously described in patients with primary immunodeficiency diseases. The patients were infected with various pathogens, including mycobacteria and/or viruses, and one of the patients developed hyper-IgE syndrome. A detailed immunological investigation of these patients revealed impaired responses to type I IFN, IL-10, IL-12 and IL-23, which are associated with increased susceptibility to mycobacterial and/or viral infections. Herein, we report a recessive partial TYK2 deficiency in two siblings who presented with T-cell lymphopenia characterized by low naïve CD4+ T-cell counts and who developed Epstein-Barr virus (EBV)-associated B-cell lymphoma...
May 3, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29715199/cxcr4-haploinsufficient-bone-marrow-transplantation-corrects-leukopenia-in-an-unconditioned-whim-syndrome-model
#18
Ji-Liang Gao, Erin Yim, Marie Siwicki, Alexander Yang, Qian Liu, Ari Azani, Albert Owusu-Ansah, David H McDermott, Philip M Murphy
For gene therapy of gain-of-function autosomal dominant diseases, either correcting or deleting the disease allele is potentially curative. To test whether there may be an advantage of one approach over the other for WHIM (warts, hypogammaglobulinemia, infections and myelokathexis) syndrome - a primary immunodeficiency disorder caused by gain-of-function autosomal dominant mutations in chemokine receptor CXCR4 - we performed competitive transplantation experiments using both lethally irradiated wild-type (Cxcr4+/+) and unconditioned WHIM (Cxcr4+/w) recipient mice...
May 1, 2018: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29713328/high-incidence-of-severe-combined-immunodeficiency-disease-in-saudi-arabia-detected-through-combined-t-cell-receptor-excision-circle-and-next-generation-sequencing-of-newborn-dried-blood-spots
#19
Hamoud Al-Mousa, Ghadah Al-Dakheel, Amal Jabr, Fahd Elbadaoui, Mohamed Abouelhoda, Mansoor Baig, Dorota Monies, Brian Meyer, Abbas Hawwari, Majed Dasouki
Severe combined immunodeficiency disease (SCID) is the most severe form of primary immunodeficiency disorders (PID). T-cell receptor excision circle (TREC) copy number analysis is an efficient tool for population-based newborn screening (NBS) for SCID and other T cell lymphopenias. We sought to assess the incidence of SCID among Saudi newborn population and examine the feasibility of using targeted next generation sequencing PID gene panel (T-NGS PID) on DNA isolated from dried blood spots (DBSs) in routine NBS programs as a mutation screening tool for samples with low TREC count...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29702748/chronic-mucocutaneous-candidosis-due-to-gain-of-function-mutation-in-stat1
#20
REVIEW
Barbara Carey, Jonathan Lambourne, Stephen Porter, Tim Hodgson
Chronic mucocutaneous candidiasis (CMC) is a heterogenous group of primary immunodeficiency diseases characterised by susceptibility to chronic or recurrent superficial Candida infection of skin, nails and mucous membranes. Gain-of-function mutations in the STAT1 gene (STAT1-GOF) are the most common genetic aetiology for CMC, and mutation analysis should be considered. These mutations lead to defective responses in type 1 and type 17 helper T cells (Th1 and Th17), which, depending on the mutation, also predispose to infection with Staphylococci, Mycobacteria & Herpesviridae...
April 27, 2018: Oral Diseases
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