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Primary immunodeficiences

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https://www.readbyqxmd.com/read/28239902/ecthyma-gangrenosum-without-bacteraemia-evidence-in-favour-of-a-broader-definition
#1
L Ferguson, H Chong, M Singh
Ecthyma gangrenosum (EG) is often defined as a cutaneous manifestation of Pseudomonas aeruginosa septicaemia, typically secondary to neutropenia. There is increasing recognition that a broader definition is warranted, as numerous causative organisms and predisposing conditions have been reported. We describe two cases of EG that occurred without bacteraemia. In this atypical subset of cases, the skin is thought to represent the primary inoculation site from which haematogenous spread can occur. The first case occurred in the context of human immunodeficiency virus (HIV) infection, a rarely reported association...
February 27, 2017: Clinical and Experimental Dermatology
https://www.readbyqxmd.com/read/28239376/a-mature-nk-profile-at-the-time-of-hiv-primary-infection-is-associated-with-an-early-response-to-cart
#2
Françoise Gondois-Rey, Antoine Chéret, Françoise Mallet, Ghislain Bidaut, Samuel Granjeaud, Camille Lécuroux, Mickaël Ploquin, Michaela Müller-Trutwin, Christine Rouzioux, Véronique Avettand-Fenoël, Andrea De Maria, Gilles Pialoux, Cécile Goujard, Laurence Meyer, Daniel Olive
Natural killer (NK) cells are major effectors of the innate immune response. Despite an overall defect in their function associated with chronic human immunodeficiency virus (HIV) infection, their role in primary HIV infection is poorly understood. We investigated the modifications of the NK cell compartment in patients from the ANRS-147-Optiprim trial, a study designed to examine the benefits of intensive combination antiretroviral therapy (cART) in patients with acute or early primary HIV infection. Multiparametric flow cytometry combined with bioinformatics analyses identified the NK phenotypes in blood samples from 30 primary HIV-infected patients collected at inclusion and after 3 months of cART...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28237128/primary-immunodeficiency-diseases-in-northern-iran
#3
I Mohammadzadeh, B Moazzami, J Ghaffari, A Aghamohammadi, N Rezaei
INTRODUCTION: Primary immunodeficiency diseases (PID) are a heterogeneous group of inherited disorders, characterised by recurrent severe infections, autoimmunity and lymphoproliferation. Despite impressive progress in identification of novel PID, there is an unfortunate lack of awareness among physicians in identification of patients with PID, especially in non-capital cities of countries worldwide. RESULT: This study was performed in a single-centre paediatric hospital in Northern Iran during a 21-year period (1994-2015)...
February 22, 2017: Allergologia et Immunopathologia
https://www.readbyqxmd.com/read/28236292/the-role-of-genomics-in-common-variable-immunodeficiency-disorders
#4
REVIEW
Anne-Kathrin Kienzler, Chantal E Hargreaves, Smita Y Patel
The advent of next generation sequencing (NGS) and 'omic' technologies has revolutionised the field of genetics and its implementation in healthcare has the potential to realise precision medicine. Primary immunodeficiencies (PID) are a group of rare diseases which have benefitted from NGS, with a massive increase in causative genes identified in the past few years. Common Variable Immunodeficiency Disorders (CVID) are a heterogeneous form of PID and the most common form of antibody failure in children and adults...
February 25, 2017: Clinical and Experimental Immunology
https://www.readbyqxmd.com/read/28236219/gastrointestinal-manifestations-in-x-linked-agammaglobulinemia
#5
Sara Barmettler, Iris M Otani, Jasmit Minhas, Roshini S Abraham, Yenhui Chang, Morna J Dorsey, Zuhair K Ballas, Francisco A Bonilla, Hans D Ochs, Jolan E Walter
PURPOSE: X-linked agammaglobulinemia is a primary humoral immunodeficiency characterized by hypogammaglobulinemia and increased susceptibility to infection. Although there is increased awareness of autoimmune and inflammatory complications in X-linked agammaglobulinemia (XLA), the spectrum of gastrointestinal manifestations has not previously been fully explored. METHODS: We present a case report of a family with two affected patients with XLA. Given the gastrointestinal involvement of the grandfather in this family, we performed a retrospective descriptive analysis of XLA patients with reported diagnoses of GI manifestations and inflammatory bowel disease (IBD) or enteritis registered at the United States Immunodeficiency Network, a national registry of primary immunodeficiencies...
February 24, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28236085/supplement-frontiers-in-immunoglobulin-therapy-of-primary-immunodeficiency-disease
#6
EDITORIAL
Ralph S Shapiro
No abstract text is available yet for this article.
February 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28231257/targeted-sequencing-identifies-a-novel-sh2d1a-pathogenic-variant-in-a-chinese-family-carrier-screening-and-prenatal-genetic-testing
#7
Jun-Yu Zhang, Song-Chang Chen, Yi-Yao Chen, Shu-Yuan Li, Lan-Lan Zhang, Ying-Hua Shen, Chun-Xin Chang, Yu-Qian Xiang, He-Feng Huang, Chen-Ming Xu
X-linked lymphoproliferative disease type 1 (XLP1) is a rare primary immunodeficiency characterized by a clinical triad consisting of severe EBV-induced hemophagocytic lymphohistiocytosis, B-cell lymphoma, and dysgammaglobulinemia. Mutations in SH2D1A gene have been revealed as the cause of XLP1. In this study, a pregnant woman with recurrence history of birthing immunodeficiency was screened for pathogenic variant because the proband sample was unavailable. We aimed to clarify the genetic diagnosis and provide prenatal testing for the family...
2017: PloS One
https://www.readbyqxmd.com/read/28231239/surveillance-for-health-care-access-and-health-services-use-adults-aged-18-64-years-behavioral-risk-factor-surveillance-system-united-states-2014
#8
Catherine A Okoro, Guixiang Zhao, Jared B Fox, Paul I Eke, Kurt J Greenlund, Machell Town
PROBLEM/CONDITION: As a result of the 2010 Patient Protection and Affordable Care Act, millions of U.S. adults attained health insurance coverage. However, millions of adults remain uninsured or underinsured. Compared with adults without barriers to health care, adults who lack health insurance coverage, have coverage gaps, or skip or delay care because of limited personal finances might face increased risk for poor physical and mental health and premature mortality. PERIOD COVERED: 2014...
February 24, 2017: MMWR. Surveillance Summaries: Morbidity and Mortality Weekly Report. Surveillance Summaries
https://www.readbyqxmd.com/read/28230570/refractory-pure-red-cell-aplasia-manifesting-as-deficiency-of-adenosine-deaminase-2
#9
Hasan Hashem, Rachel Egler, Jignesh Dalal
Primary progress has been made in the last 2 years, particularly in finding novel disease-causing genes for a number of autoinflammatory diseases and primary immunodeficiencies. Whole-exome sequencing has dramatically increased the pace at which causative genes are being discovered. CECR1 (Cat eye syndrome chromosome region, candidate 1) gene encodes adenosine deaminase 2 (ADA2) protein. Patients who carry CECR1 mutation(s) suffer from deficiency of ADA2 (DADA2). Here, we describe a patient with pure red cell aplasia discovered to have DADA2...
February 22, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28224361/modeling-strategy-to-identify-patients-with-primary-immunodeficiency-utilizing-risk-management-and-outcome-measurement
#10
Vicki Modell, Jessica Quinn, Grant Ginsberg, Ron Gladue, Jordan Orange, Fred Modell
This study seeks to generate analytic insights into risk management and probability of an identifiable primary immunodeficiency defect. The Jeffrey Modell Centers Network database, Jeffrey Modell Foundation's 10 Warning Signs, the 4 Stages of Testing Algorithm, physician-reported clinical outcomes, programs of physician education and public awareness, the SPIRIT® Analyzer, and newborn screening, taken together, generates P values of less than 0.05%. This indicates that the data results do not occur by chance, and that there is a better than 95% probability that the data are valid...
February 21, 2017: Immunologic Research
https://www.readbyqxmd.com/read/28222032/unexplained-cyanosis-caused-by-hepatopulmonary-syndrome-in-a-girl-with-apeced-syndrome
#11
Fatih Celmeli, Abdullah Kocabas, Ishak A Isik, Mesut Parlak, Kai Kisand, Serdar Ceylaner, Doga Turkkahraman
Autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED) is a rare but devastating primary immunodeficiency disease caused by loss-of-function mutations in autoimmune regulator (AIRE) gene on chromosome 21q22.3. The clinical spectrum of the disease is characterized by a wide heterogeneity because of autoimmune reactions toward different endocrine and non-endocrine organs. Here, we report a 17-year-old Turkish girl diagnosed with APECED at 9 years in whom a novel homozygote mutation in AIRE gene p...
February 21, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28219603/acute-rejection-of-a-kidney-transplant-in-a-patient-with-common-variable-immunodeficiency-a-case-report
#12
O Al Nimri, A Rajput, E Martinez, J M Fahrenholz, P Paueksakon, A Langone, B P Concepcion
Common variable immunodeficiency is a primary immunodeficiency characterized by hypogammaglobulinemia and recurrent bacterial infections. We report a case of a 44-year-old male patient with end-stage renal disease and an established diagnosis of common variable immunodeficiency who underwent a living unrelated kidney transplant. He remained nearly infection free on maintenance immunoglobulin replacement. However, his posttransplant course was complicated by acute rejection that ultimately led to allograft loss...
March 2017: Transplantation Proceedings
https://www.readbyqxmd.com/read/28218713/transgene-expression-and-host-cell-responses-to-replication-defective-single-cycle-and-replication-competent-adenovirus-vectors
#13
Catherine M Crosby, Michael A Barry
Most adenovirus (Ad) vectors are E1 gene deleted replication defective (RD-Ad) vectors that deliver one transgene to the cell and all expression is based on that one gene. In contrast, E1-intact replication-competent Ad (RC-Ad) vectors replicate their DNA and their transgenes up to 10,000-fold, amplifying transgene expression markedly higher than RD-Ad vectors. While RC-Ad are more potent, they run the real risk of causing adenovirus infections in vector recipients and those that administer them. To gain the benefits of transgene amplification, but avoid the risk of Ad infections, we developed "single cycle" Ad (SC-Ad) vectors...
February 18, 2017: Genes
https://www.readbyqxmd.com/read/28216434/human-nlrp3-inflammasome-activity-is-regulated-by-and-potentially-targetable-via-btk
#14
Xiao Liu, Tica Pichulik, Olaf-Oliver Wolz, Truong-Minh Dang, Andrea Stutz, Carly Dillen, Magno Delmiro Garcia, Helene Kraus, Sabine Dickhöfer, Ellen Daiber, Lisa Münzenmayer, Silke Wahl, Nikolaus Rieber, Jasmin Kümmerle-Deschner, Amir Yazdi, Mirita Franz-Wachtel, Boris Macek, Markus Radsak, Sebastian Vogel, Berit Schulte, Juliane Sarah Walz, Dominik Hartl, Eicke Latz, Stephan Stilgenbauer, Bodo Grimbacher, Lloyd Miller, Cornelia Brunner, Christiane Wolz, Alexander N R Weber
BACKGROUND: The Nod-like receptor, NACHT, LRR and PYD domains-containing protein 3 (NLRP3), and Bruton's tyrosine kinase (BTK) are protagonists in innate and adaptive immunity, respectively: NLRP3 senses exogenous and endogenous insults leading to inflammasome activation, which occurs spontaneously in Muckle-Wells Syndrome (MWS); BTK mutations cause the genetic immunodeficiency X-linked agammaglobulinemia (XLA). However, to date few proteins that regulate NLRP3 inflammasome activity in human primary immune cells have been identified and clinically promising pharmacological targeting strategies remain elusive...
February 16, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28214184/-systemic-lupus-erythematosus-and-lymphopenia-clinical-and-pathophysiological-features
#15
M Martin, A Guffroy, X Argemi, T Martin
Lymphopenia is frequent in systemic lupus erythematosus (SLE) and profound (<500/mm(3)) in 10% of cases. T lymphocytes, especially CD4+, are more affected than B cells. The pathophysiological mechanisms are complex, involving lymphocytotoxic antibodies, excess of apoptosis, increased susceptibility of T cells to complement mediated cytolysis, as well as lymphopoiesis impairment and lymphocyte sequestration. Lymphopenia in SLE is independent from other cytopenia and immunosuppressive drug regiments, and associated with disease activity, risk of flare and damage scores...
February 14, 2017: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/28212436/antibody-deficiency-in-patients-with-frequent-exacerbations-of-chronic-obstructive-pulmonary-disease-copd
#16
Brian N McCullagh, Alejandro P Comellas, Zuhair K Ballas, John D Newell, M Bridget Zimmerman, Antoine E Azar
Chronic Obstructive Pulmonary Disease is the third leading cause of death in the US, and is associated with periodic exacerbations, which account for the largest proportion of health care utilization, and lead to significant morbidity, mortality, and worsening lung function. A subset of patients with COPD have frequent exacerbations, occurring 2 or more times per year. Despite many interventions to reduce COPD exacerbations, there is a significant lack of knowledge in regards to their mechanisms and predisposing factors...
2017: PloS One
https://www.readbyqxmd.com/read/28202953/fully-human-cd19-specific-chimeric-antigen-receptors-for-t-cell-therapy
#17
D Sommermeyer, T Hill, S M Shamah, A I Salter, Y Chen, K M Mohler, S R Riddell
Impressive results have been achieved by adoptively transferring T-cells expressing CD19-specific CARs with binding domains from murine mAbs to treat B-cell malignancies. T-cell mediated immune responses specific for peptides from the murine scFv antigen-binding domain of the CAR can develop in patients and result in premature elimination of CAR-T-cells increasing the risk of tumor relapse. As fully human scFv might reduce immunogenicity, we generated CD19-specific human scFvs with similar binding characteristics as the murine FMC63-derived scFv using human Ab/DNA-libraries...
February 16, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/28201953/acute-hiv-1-infection-presenting-with-fulminant-encephalopathy
#18
Eun J Lee, Young H Kim, Jeong Y Lee, Jun-Sang Sunwoo, Se Y Park, Tae H Kim
Human immunodeficiency virus (HIV)-1 directly affects the nervous system, causes distinct neurological symptoms, and indirectly results in opportunistic infections, which include herpes virus simplex (HSV)-1, HSV-2, varicella zoster virus, and cytomegalovirus encephalitis caused by immunodeficiency. Early HIV-1 invasion of the central nervous system is also possible, and acute encephalopathy is a potentially lethal complication. We encountered a case of fulminant encephalopathy as a primary presentation of acute HIV-1 infection, in which highly active antiretroviral treatment resulted in a full clinical recovery...
January 1, 2017: International Journal of STD & AIDS
https://www.readbyqxmd.com/read/28199798/the-hotel-study-clinical-and-health-service-effectiveness-in-a-cohort-of-homeless-or-marginally-housed-persons
#19
William G Honer, Alejandro Cervantes-Larios, Andrea A Jones, Fidel Vila-Rodriguez, Julio S Montaner, Howard Tran, Jimmy Nham, William J Panenka, Donna J Lang, Allen E Thornton, Talia Vertinsky, Alasdair M Barr, Ric M Procyshyn, Geoffrey N Smith, Tari Buchanan, Mel Krajden, Michael Krausz, G William MacEwan, Kristina M Gicas, Olga Leonova, Verena Langheimer, Alexander Rauscher, Krista Schultz
OBJECTIVE: The Hotel Study was initiated in Vancouver's Downtown East Side (DTES) neighborhood to investigate multimorbidity in homeless or marginally housed people. We evaluated the clinical effectiveness of existing, illness-specific treatment strategies and assessed the effectiveness of health care delivery for multimorbid illnesses. METHOD: For context, we mapped the housing locations of patients presenting for 552,062 visits to the catchment hospital emergency department (2005-2013)...
January 1, 2017: Canadian Journal of Psychiatry. Revue Canadienne de Psychiatrie
https://www.readbyqxmd.com/read/28197791/clinical-manifestations-and-genetic-analysis-of-17-patients-with-autosomal-dominant-hyper-ige-syndrome-in-mainland-china-new-reports-and-a-literature-review
#20
Jing Wu, Ji Chen, Zhi-Qing Tian, Hao Zhang, Ruo-Lan Gong, Tong-Xin Chen, Li Hong
PURPOSE: Autosomal dominant hyper-IgE syndrome (AD-HIES) is a rare complicated primary immunodeficiency disease (PID). Signal transducer and activator of transcription 3 (STAT3) gene mutation is found to cause AD-HIES. The distribution of AD-HIES patients with STAT3 deficiency in the Chinese population is not clear. Herein, we retrospectively report 17 AD-HIES patients with STAT3 deficiency and demonstrate their clinical, immunological, and genetic features. METHODS: Patients' clinical data were collected from their medical records...
February 2017: Journal of Clinical Immunology
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