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https://www.readbyqxmd.com/read/28318195/-serratia-infections-should-we-think-about-primary-immunodeficiencies
#1
Alicia Montaner Ramón, Laura Murillo Sanjuán, Cristina Martínez Faci, Carmelo Guerrero Laleona, Carmen Rodríguez-Vigil Iturrate
Chronic granulomatous disease (CGD) is a primary immunodeficiency with an incidence of 1/200,000-250,000 live births. CGD affects mainly male patients, most of the mutations being X-linked, and autosomal recessive forms occur more frequently in communities with greater numbers of consanguineous marriages. CGD is characterized by sensitivity to recurrent and severe bacterial and fungal infections, with formation of granulomas due to the inability of phagocytes to generate reactive oxygen compounds, necessary for the intracellular death of phagocytic microorganisms...
April 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28316003/evaluation-of-the-safety-tolerability-and-pharmacokinetics-of-gammaplex-%C3%A2-10-versus-gammaplex-%C3%A2-5-in-subjects-with-primary-immunodeficiency
#2
Richard L Wasserman, Isaac R Melamed, Mark R Stein, Stephen Jolles, Miranda Norton, James N Moy
PURPOSE: This phase 3, multicenter, open-label, randomized, two-period, crossover bioequivalence trial evaluated the safety, tolerability, and pharmacokinetics of intravenous immunoglobulins (IVIGs) Gammaplex 5% and Gammaplex 10% in 33 adults and 15 children with primary immunodeficiency diseases (PIDs). METHODS: Eligible adults received five Gammaplex 5% infusions followed by five Gammaplex 10% infusions, or vice versa, stratified by a 21- or 28-day dosing regimen...
March 18, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28304004/x-linked-agammaglobulinemia-first-case-with-bruton-tyrosine-kinase-mutation-from-pakistan
#3
Samreen Kulsom Zaidi, Sonia Qureshi, Farah Naz Qamar
X-linked agammaglobulinemia (XLA) is a primary immunodeficiency with more than 600 mutations in Bruton tyrosine kinase (Bkt) gene which are responsible for early-onset agammaglobulinemia and repeated infections. Herein we present a case of a 3-year-old boy with history of repeated diarrhoea and an episode of meningoencephalitis with hemiplegia. The workup showed extremely low levels of immunoglobulin with low CD+19 cells. Genetic analysis showed Btk mutation 18 c.1883delCp.T628fs. To the best of our knowledge this is the first report of a case of XLA confirmed by molecular technique from Pakistan...
March 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28302518/mutations-in-pik3r1-can-lead-to-apds2-short-syndrome-or-a-combination-of-the-two
#4
M Bravo García-Morato, S García-Miñaúr, J Molina Garicano, F Santos Simarro, E López-Grandos, A Ferreira Cerdán, R Rodríguez Pena
Mutations in PIK3R1 gene have been associated to two different conditions: a primary immunodeficiency, called APDS2, of recent description and SHORT syndrome. 47 patients with APDS2 have been reported to date, only one of them sharing both PIK3R1-related phenotypes. Here we describe two more patients affected by APDS2 and SHORT syndrome, which highlights that this association may not be so infrequent. We recommend that patients with mutations in PIK3R1 gene should be assessed by both clinical immunologists and clinical geneticists...
March 13, 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/28302172/transcriptome-analysis-of-bronchoalveolar-lavage-fluid-from-children-with-severe-mycoplasma-pneumoniae-pneumonia-reveals-novel-gene-expression-and-immunodeficiency
#5
Kuo Wang, Man Gao, Mingyue Yang, Fanzheng Meng, Deli Li, Ruihua Lu, Yan Wang, Huadong Zhuang, Mengyao Li, Genhong Cheng, Xiaosong Wang
BACKGROUND: A growing number of severe Mycoplasma pneumoniae pneumonia (MPP) cases have been reported recently. However, the pathogenesis of severe MPP is not clear. In the current study, transcriptome sequencing was used to identify gene expression and alternative splicing profiles to provide insights into the pathogenesis of severe MPP. METHODS: RNAs of bronchoalveolar lavage fluid (BALF) samples from three severe MPP children and three mild MPP children were analyzed respectively by deep sequencing followed by computational annotation and quantification...
March 16, 2017: Human Genomics
https://www.readbyqxmd.com/read/28299599/incidence-of-typically-severe-primary-immunodeficiency-diseases-in-consanguineous-and-non-consanguineous-populations
#6
Arnon Broides, Amit Nahum, Amarilla B Mandola, Lihi Rozner, Vered Pinsk, Galina Ling, Baruch Yerushalmi, Jacov Levy, Noga Givon-Lavi
PURPOSE: Primary immunodeficiency diseases are considered to be rare diseases; however, data on the exact birth incidences of these diseases are sparse. Southern Israel is inhabited by two major populations: a relatively non-consanguineous Jewish population and a highly consanguineous Muslim Bedouin population. We sought to calculate the incidences of typically severe primary immunodeficiency diseases and compare the incidences in these populations. METHODS: A retrospective analysis of all typically severe primary immunodeficiency diseases evaluated at a single center from January 1, 1996 to December 31, 2016...
March 16, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28293550/dock-8-deficiency-ebv-lymphomatoid-granulomatosis-and-intrafamilial-variation-in-presentation
#7
Victoria R Dimitriades, Vincent Devlin, Stefania Pittaluga, Helen C Su, Steven M Holland, Wyndham Wilson, Kieron Dunleavy, Nirali N Shah, Alexandra F Freeman
Dedicator of cytokinesis 8 (DOCK8) deficiency is an autosomal recessive, combined immunodeficiency within the spectrum of hyper-IgE syndromes. Epstein-Barr virus-positive lymphomatoid granulomatosis (LYG) (EBV + LYG) is a rare diagnosis and a previously unreported presentation of DOCK8 deficiency. A 10-year-old girl was initially evaluated for mild eczema and recurrent sinopulmonary infections. She had normal immunoglobulins with elevated IgE, poor polysaccharide response with low switched memory B cells, low CD4 count, and normal mitogen and antigen responses...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28289412/follicular-t-cells-from-smb-common-variable-immunodeficiency-patients-are-skewed-toward-a-th1-phenotype
#8
Vanesa Cunill, Antonio Clemente, Nallibe Lanio, Carla Barceló, Valero Andreu, Jaume Pons, Joana M Ferrer
Germinal center follicular T helper (GCTfh) cells are essential players in the differentiation of B cells. Circulating follicular T helper (cTfh) cells share phenotypic and functional properties with GCTfh cells. Distinct subpopulations of cTfh with different helper capabilities toward B cells can be identified: cTfh1 (CXCR3(+)CCR6(-)), cTfh2 (CXCR3(-)CCR6(-)), and cTfh17 (CXCR3(-)CCR6(+)). Alterations in cTfh function and/or distribution have been associated with autoimmunity, infectious diseases, and more recently, with several monogenic immunodeficiencies...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28288951/haploidentical-related-donor-hematopoietic-stem-cell-transplantation-for-dock8-deficiency-using-post-transplantation-cyclophosphamide
#9
Nirali N Shah, Alexandra F Freeman, Helen Su, Kristen Cole, Mark Parta, Niki M Moutsopoulos, Safa Baris, Elif Karakoc-Aydiner, Thomas E Hughes, Heidi H Kong, Steve M Holland, Dennis D Hickstein
Dedicator-of-Cytokinesis-8 (DOCK8) deficiency, a primary immunodeficiency disease, can be reversed by allogeneic hematopoietic stem cell transplant (HSCT); however, there are few reports describing the use of alternative donor sources for HSCT in DOCK8 deficiency. We describe HSCT for patients with DOCK8 deficiency who lack a matched related or unrelated donor using bone marrow from haploidentical related donors and post-transplantation cyclophosphamide (PT/CY) for GVHD prophylaxis. Seven patients with DOCK8 deficiency (median age 20 years, range 7-25 years) received a haploidentical related donor HSCT...
March 10, 2017: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/28288231/-primary-immunodeficiencies-in-seriously-ill-children-report-of-3-clinical-cases
#10
Leticia Yáñez, Pamela Lama, Carolina Rivacoba, Juanita Zamorano, María Angélica Marinovic
Primary immunodeficiency diseases (PID) are congenital disorders secondary to an impaired immune response. Infections, autoimmune disorders, atopy, and lymphoproliferative syndromes are commonly associated with this disorder. OBJECTIVE: To present and discuss 3 infants diagnosed with PID. CLINICAL CASES: The cases are presented of three patients with PID diagnosed during their first admission to a Paediatric Intensive Critical Care Unit. The first patient, a 4-month-old infant affected by a severe pneumonia, and was diagnosed as a Severe Combined Immunodeficiency Disease...
February 2017: Revista Chilena de Pediatría
https://www.readbyqxmd.com/read/28270364/new-frontiers-in-the-therapy-of-primary-immunodeficiency-from-gene-addition-to-gene-editing
#11
REVIEW
Donald B Kohn, Caroline Y Kuo
The most severe primary immune deficiency diseases (PIDs) have been successfully treated with allogeneic hematopoietic stem cell transplantation for more than 4 decades. However, such transplantations have the best outcomes when there is a well-matched donor available because immune complications, such as graft-versus-host disease, are greater without a matched sibling donor. Gene therapy has been developed as a method to perform autologous transplantations of a patient's own stem cells that are genetically corrected...
March 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28270363/targeted-strategies-directed-at-the-molecular-defect-toward-precision-medicine-for-select-primary-immunodeficiency-disorders
#12
REVIEW
Luigi D Notarangelo, Thomas A Fleisher
Primary immunodeficiency disorders (PIDs) represent a range of genetically determined diseases that typically have increased susceptibility to infections and in many cases also have evidence of immune dysregulation that often presents as autoimmunity. Most recently, the concept of gain-of-function mutations associated with PIDs has become well recognized and adds a new dimension to the understanding of this group of disorders, moving beyond the more commonly seen loss-of-function mutations. The rapidly expanding genetic defects that have been identified in patients with previously uncharacterized PIDs has opened up the potential for targeted therapy directed at the specific disease-causing abnormality...
March 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28265073/sm-protein-munc18-2-facilitates-transition-of-syntaxin-11-mediated-lipid-mixing-to-complete-fusion-for-t-lymphocyte-cytotoxicity
#13
Waldo A Spessott, Maria L Sanmillan, Margaret E McCormick, Vineet V Kulkarni, Claudio G Giraudo
The atypical lipid-anchored Syntaxin 11 (STX11) and its binding partner, the Sec/Munc (SM) protein Munc18-2, facilitate cytolytic granule release by cytotoxic T lymphocytes (CTLs) and natural killer (NK) cells. Patients carrying mutations in these genes develop familial hemophagocytic lymphohistiocytosis, a primary immunodeficiency characterized by impaired lytic granule exocytosis. However, whether a SNARE such as STX11, which lacks a transmembrane domain, can support membrane fusion in vivo is uncertain, as is the precise role of Munc18-2 during lytic granule exocytosis...
March 6, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28261296/gastrointestinal-disorders-next-to-respiratory-infections-as-leading-symptoms-of-x-linked-agammaglobulinemia-in-children-34-year-experience-of-a-single-center
#14
Malgorzata Pac, Ewa A Bernatowska, Jarosław Kierkuś, Józef P Ryżko, Joanna Cielecka-Kuszyk, Teresa Jackowska, Bożena Mikołuć
INTRODUCTION: Respiratory tract infections constitute the most frequent manifestation of X-linked agammaglobulinemia (XLA). There are not many papers elucidating gastrointestinal (GI) disorders, including inflammatory bowel disease (IBD), in such patients. The aim of the study was to evaluate the occurrence of gastrointestinal disorders and IBD compared to respiratory tract infections in XLA individuals. MATERIAL AND METHODS: Of 1563 patients with primary immunodeficiencies diagnosed in the Department of Immunology, the Children's Memorial Health Institute (CMHI), 66 boys had a provisional diagnosis of agammaglobulinemia...
March 1, 2017: Archives of Medical Science: AMS
https://www.readbyqxmd.com/read/28251166/clinical-features-and-genetic-analysis-of-48-patients-with-chronic-granulomatous-disease-in-a-single-center-study-from-shanghai-china-2005-2015-new-studies-and-a-literature-review
#15
Jing Wu, Wei-Fan Wang, Yi-Dan Zhang, Tong-Xin Chen
Chronic Granulomatous Disease (CGD) is a rare inherited primary immunodeficiency, which is characterized by recurrent infections due to defective phagocyte NADPH oxidase enzyme. Nowadays, little is known about Chinese CGD patients. Here we report 48 CGD patients in our single center study, which is the largest cohort study from Mainland China. The ratio of male to female was 11 : 1. The mean onset age was 0.29 years old, and 52% patients had an onset within the 1st month of life. The mean diagnosis age was 2...
2017: Journal of Immunology Research
https://www.readbyqxmd.com/read/28251028/empyema-due-to-streptococcus-pneumoniae-serotype-9v-in-a-child-immunized-with-13-valent-conjugated-pneumococcal-vaccine
#16
Murat Sütçü, Hacer Aktürk, Fatih Karagözlü, Ayper Somer, Nezahat Gürler, Nuran Salman
BACKGROUND: Clinical vaccine failure is the occurence of the specific vaccine-preventable disease in an appropriately and fully vaccinated person after enough time has elapsed for protection against the antigens of the vaccine to develop. Fully immunized cases with pneumoccal vaccine may sometimes develop a complicated pneumonia with empyema caused by a vaccine serotype. CASE REPORT: A 2 year-old male patient was admitted with the complaints of fever. On the basis of findings and laboratory results, the patient was diagnosed as having empyema...
January 2017: Balkan Medical Journal
https://www.readbyqxmd.com/read/28250627/achromobacter-xylosoxidans-septic-arthritis-in-a-child-with-primary-immunodeficiency
#17
Amitabh Singh, Altaf Hussain, Rahul Jain, Kumar Aishwarya, Vibhor Tak, Preeti Thakur
No abstract text is available yet for this article.
January 2017: Journal of Global Infectious Diseases
https://www.readbyqxmd.com/read/28242153/-papillon-lef%C3%A3-vre-syndrome-a-new-case
#18
S Martinho, T Levade, P Fergelot, J-L Stephan
Papillon-Lefèvre syndrome (PLS) is a rare primary immunodeficiency, which combines severe periodontal disease with edentulism and palmoplantar keratosis (PPK). PLS is inherited as an autosomal recessive trait and is due to mutations in the cathepsin C gene. The biological properties of the neutrophils (PN) are altered, leading to a gingival dysbiosis and bacterial overgrowth, with intense inflammation of the periodontium. We report the observation of a 4-year-old girl who presented to the clinic with gingivitis, partial edentulism, and PPK, whose diagnosis, raised after a long delay, was suggested by null cathepsin C activity and confirmed by the presence of heterozygous mutations in exon 4: c...
February 24, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28237128/primary-immunodeficiency-diseases-in-northern-iran
#19
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
#20
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
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