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https://www.readbyqxmd.com/read/29150252/resolution-of-extensive-vulvovaginal-condylomatosis-following-immunoglobulin-replacement-in-primary-immunodeficiency-disorders
#1
Rohan V Ameratunga
No abstract text is available yet for this article.
November 14, 2017: Journal of Allergy and Clinical Immunology in Practice
https://www.readbyqxmd.com/read/29140551/b-cell-receptor-repertoire-sequencing-in-patients-with-primary-immunodeficiency-a-review
#2
REVIEW
Marie Ghraichy, Jacob D Galson, Dominic F Kelly, Johannes Trück
The advent of next-generation sequencing now allows a detailed assessment of the adaptive immune system in health and disease. In particular, high-throughput B-cell receptor (BCR) repertoire sequencing provides detailed information about the functionality and abnormalities of the B-cell system. However, it is mostly unknown how the BCR repertoire is altered in the context of primary immunodeficiencies (PID) and whether findings are consistent across phenotypes and genotypes. We have performed an extensive literature search of the published work on BCR repertoire sequencing in PID patients, including several forms of predominantly antibody disorders and combined immunodeficiencies...
November 15, 2017: Immunology
https://www.readbyqxmd.com/read/29138951/chronic-diarrhea-in-common-variable-immunodeficiency-a-case-series-and-review-of-the-literature
#3
Antonio Pecoraro, Liliana Nappi, Ludovica Crescenzi, Francesco P D'Armiento, Arturo Genovese, Giuseppe Spadaro
Common variable immunodeficiency (CVID) is a primary immunodeficiency characterized by reduced immunoglobulin serum levels and absent or impaired antibody production. Clinical manifestations, including infections, inflammatory and autoimmune diseases, and malignancies, also involve various segments of the gastrointestinal tract. Chronic diarrhea is one of the most common gastrointestinal symptoms and may cause a wide spectrum of potentially life-threatening conditions as malabsorption and protein-energy malnutrition...
November 14, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29137234/the-af4-mll-fusion-transiently-augments-multilineage-hematopoietic-engraftment-but-is-not-sufficient-to-initiate-leukemia-in-cord-blood-cd34-cells
#4
Cristina Prieto, Rolf Marschalek, Alessa Kühn, Adelheid Bursen, Clara Bueno, Pablo Menéndez
The translocation t(4;11)(q21;q23) is the hallmark genetic abnormality associated with infant pro-B acute lymphoblastic leukemia (B-ALL) and has the highest frequency of rearrangement in Mixed-lineage leukemia (MLL) leukemias. Unlike other MLL translocations, MLL-AF4-induced proB-ALL is exceptionally difficult to model in mice/humans. Previous work has investigated the relevance of the reciprocal translocation fusion protein AF4-MLL for t(4;11) leukemia, finding that AF4-MLL is capable of inducing proB-ALL without requirement for MLL-AF4 when expressed in murine hematopoietic stem/progenitor cells (HSPCs)...
October 10, 2017: Oncotarget
https://www.readbyqxmd.com/read/29135572/long-term-observational-studies-of-chronic-granulomatous-disease
#5
Maria Kanariou, Kleopatra Spanou, Sofia Tantou
PURPOSE OF REVIEW: Chronic granulomatous disease (CGD) is a primary immunodeficiency, with a defect of phagocytes in killing specific pathogens. CGD is characterized by severe recurrent bacterial and fungal infections and dysregulated inflammatory response. Since its first description as fatal disease about 60 years ago, a significant improvement in outcome has been achieved in the last 20 years. The purpose of this review is to framework recent advances in CGD immunopathogenesis, management of disease manifestation and cure of CGD patients...
November 10, 2017: Current Opinion in Hematology
https://www.readbyqxmd.com/read/29128761/inborn-errors-of-immunity-underlying-fungal-diseases-in-otherwise-healthy-individuals
#6
REVIEW
Juan Li, Donald C Vinh, Jean-Laurent Casanova, Anne Puel
It has been estimated that there are at least 1.5 million fungal species, mostly present in the environment, but only a few of these fungi cause human disease. Most fungal diseases are self-healing and benign, but some are chronic or life-threatening. Acquired and inherited defects of immunity, including breaches of mucocutaneous barriers and circulating leukocyte deficiencies, account for most severe modern-day mycoses. Other types of infection typically accompany these fungal infections. More rarely, severe fungal diseases can strike otherwise healthy individuals...
November 9, 2017: Current Opinion in Microbiology
https://www.readbyqxmd.com/read/29128075/flow-cytometric-evaluation-of-primary-immunodeficiencies
#7
REVIEW
Andreas Boldt, Michael Bitar, Ulrich Sack
Primary immunodeficiency diseases are genetic disorders that mostly cause susceptibility to infections and are sometimes associated with autoimmune and malignant diseases. For early detection and management of these diseases, flow cytometric procedures allow an encompassing assessment of cellular phenotypes and cellular functions. State-of-the art cytometry is based today on 8- to 10-color staining and includes an assessment of lineage maturation and functional markers.
December 2017: Clinics in Laboratory Medicine
https://www.readbyqxmd.com/read/29119939/mannose-binding-lectin-protein-deficiency-among-patients-with-primary-immunodeficiency-disease-receiving-ivig-therapy
#8
Gholamreza Azizi, Fatemeh Kiaee, Naeimeh Tavakolinia, Hosein Rafiemanesh, Sara Mohammadikhajehdehi, Laleh Sharifi, Reza Yazdani, Hassan Abolhassani, Asghar Aghamohammadi
BACKGROUND: Primary immunodeficiencies (PIDs) are inherited disorders in which one or several components of the immune system are defective. Immunoglobulin replacement therapy is the mainstay of treatment for patients with impaired antibody production. However, recurrent infections would continue to occur in some patients due to the other high frequent concomitant defects such as mannose-binding lectin (MBL) deficiency. METHODS: A total of 51 PID patients participated in this cross-sectional study...
November 7, 2017: Endocrine, Metabolic & Immune Disorders Drug Targets
https://www.readbyqxmd.com/read/29117743/neurological-manifestations-of-primary-immunodeficiency-diseases
#9
Ömer Faruk Aydin, Banu Anlar
No abstract text is available yet for this article.
November 1, 2017: Clinical Pediatrics
https://www.readbyqxmd.com/read/29116556/newborn-screening-for-primary-immunodeficiency-diseases-history-current-and-future-practice
#10
Jovanka R King, Lennart Hammarström
The primary objective of population-based newborn screening is the early identification of asymptomatic infants with a range of severe diseases, for which effective treatment is available and where early diagnosis and intervention prevent serious sequelae. Primary immunodeficiency diseases (PID) are a heterogeneous group of inborn errors of immunity. Severe combined immunodeficiency (SCID) is one form of PID which is uniformly fatal without early, definitive therapy, and outcomes are significantly improved if infants are diagnosed and treated within the first few months of life...
November 8, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29114388/epistatic-interactions-between-mutations-of-taci-tnfrsf13b-and-tcf3-result-in-a-severe-primary-immunodeficiency-disorder-and-systemic-lupus-erythematosus
#11
Rohan Ameratunga, Wikke Koopmans, See-Tarn Woon, Euphemia Leung, Klaus Lehnert, Charlotte A Slade, Jessica C Tempany, Anselm Enders, Richard Steele, Peter Browett, Philip D Hodgkin, Vanessa L Bryant
Common variable immunodeficiency disorders (CVID) are a group of primary immunodeficiencies where monogenetic causes account for only a fraction of cases. On this evidence, CVID is potentially polygenic and epistatic although there are, as yet, no examples to support this hypothesis. We have identified a non-consanguineous family, who carry the C104R (c.310T>C) mutation of the Transmembrane Activator Calcium-modulator and cyclophilin ligand Interactor (TACI, TNFRSF13B) gene. Variants in TNFRSF13B/TACI are identified in up to 10% of CVID patients, and are associated with, but not solely causative of CVID...
October 2017: Clinical & Translational Immunology
https://www.readbyqxmd.com/read/29106381/a-digenic-human-immunodeficiency-characterized-by-ifnar1-and-ifngr2-mutations
#12
Rodrigo Hoyos-Bachiloglu, Janet Chou, Catherine N Sodroski, Abdallah Beano, Wayne Bainter, Magdalena Angelova, Eman Al Idrissi, Murad K Habazi, Hamza Ali Alghamdi, Fahd Almanjomi, Mohamed Al Shehri, Nagi Elsidig, Morsi Alaa Eldin, David M Knipe, Mofareh AlZahrani, Raif S Geha
Primary immunodeficiencies are often monogenic disorders characterized by vulnerability to specific infectious pathogens. Here, we performed whole-exome sequencing of a patient with disseminated Mycobacterium tuberculosis, Streptococcus viridians bacteremia, and cytomegalovirus (CMV) viremia and identified mutations in 2 genes that regulate distinct IFN pathways. The patient had a homozygous frameshift deletion in IFNGR2, which encodes the signal transducing chain of the IFN-γ receptor, that resulted in minimal protein expression and abolished downstream signaling...
November 6, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29103189/modulation-of-the-interleukin-21-pathway-with-interleukin-4-distinguishes-common-variable-immunodeficiency-patients-with-more-non-infectious-clinical-complications
#13
Marylin Desjardins, Marianne Béland, Marieme Dembele, Duncan Lejtenyi, Jean-Phillipe Drolet, Martine Lemire, Christos Tsoukas, Moshe Ben-Shoshan, Francisco J D Noya, Reza Alizadehfar, Christine T McCusker, Bruce D Mazer
PURPOSE: Common variable immunodeficiency (CVID) is characterized by hypogammaglobulinemia and clinical manifestations such as infections, autoimmunity, and malignancy. We sought to determine if responsiveness to interleukin-21 (IL-21), a key cytokine for B cell differentiation, correlates with distinct clinical phenotypes in CVID. METHODS: CVID subjects were recruited through the Canadian Primary Immunodeficiency Evaluative Survey registry. Peripheral blood mononuclear cells were cultured with anti-CD40 ± interferon-gamma, interleukin-4 (IL-4), IL-21, and/or IL-4+IL-21...
November 4, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29095803/update-on-vaccine-derived-polioviruses-worldwide-january-2016-june-2017
#14
Jaume Jorba, Ousmane M Diop, Jane Iber, Elizabeth Henderson, Roland W Sutter, Steven G F Wassilak, Cara C Burns
In 1988, the World Health Assembly launched the Global Polio Eradication Initiative (GPEI) (1). Among the three wild poliovirus (WPV) serotypes, only type 1 (WPV1) has been detected since 2012. Since 2014, detection of WPV1 has been limited to three countries, with 37 cases in 2016 and 11 cases in 2017 as of September 27. The >99.99% decline worldwide in polio cases since the launch of the GPEI is attributable to the extensive use of the live, attenuated oral poliovirus vaccine (OPV) in mass vaccination campaigns and comprehensive national routine immunization programs...
November 3, 2017: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/29091162/erratum-ii-brazilian-consensus-on-the-use-of-human-immunoglobulin-in-patients-with-primary-immunodeficiencies
#15
(no author information available yet)
[This corrects the article doi: 10.1590/S1679-45082017AE3844].
July 2017: Einstein
https://www.readbyqxmd.com/read/29077208/clinical-efficacy-of-a-next-generation-sequencing-gene-panel-for-primary-immunodeficiency-diagnostics
#16
W Rae, D Ward, C Mattocks, R J Pengelly, E Eren, S V Patel, S N Faust, D Hunt, A P Williams
Primary immunodeficiencies (PIDs) are rare monogenic inborn errors of immunity that result in impairment of functions of the human immune system. PIDs have a broad phenotype with increased morbidity and mortality and treatment choices are often complex. With increased accessibility of next-generation sequencing the rate of discovery of genetic causes for PID has increased exponentially. Identification of an underlying monogenic diagnosis provides important clinical benefits for patients with the potential to alter treatments, facilitate genetic counselling, and pre-implantation diagnostics...
October 27, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29077206/population-pharmacokinetics-of-intravenous-busulfan-in-japanese-pediatric-patients-with-primary-immunodeficiency-diseases
#17
Yasuyoshi Ishiwata, Masashi Nagata, Kohta Tsuge, Hiromitsu Takahashi, Sayo Suzuki, Kohsuke Imai, Masatoshi Takagi, Hirokazu Kanegane, Tomohiro Morio, Masato Yasuhara
No abstract text is available yet for this article.
October 27, 2017: Journal of Clinical Pharmacology
https://www.readbyqxmd.com/read/29071685/flow-cytometry-assays-in-primary-immunodeficiency-diseases
#18
Maurice R G O'Gorman
Inborn errors of immunity are the cause of the primary immunodeficiency diseases, an extremely diverse group of genetic defects that are inherited in Mendelian fashion and result in the impairment of development and/or function of key components of the immune system. Since the last publication of this chapter in 2011, there have been approximately 100 new primary immunodeficiency diseases officially classified by the "Expert Committee for Primary Immunodeficiency" who met in 2015 and the numbers will continue to rise with the continued evolution and widespread adoption of genomic technologies...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29062247/frequency-of-mycobacterium-bovis-and-mycobacteria-in-primary-immunodeficiencies
#19
Ezgi Ulusoy, Neslihan Edeer Karaca, Güzide Aksu, Cengiz Çavuşoğlu, Necil Kütükçüler
AIM: Susceptibility to mycobacterial diseases is observed in some primary immunodeficiency diseases. In this study, we aimed to evaluate mycobacterial infections in primary immunodeficiency diseases. MATERIAL AND METHODS: Patients under follow-up by Ege University Pediatric Immunology Department for severe combined and combined immunodeficiencies, interleukin 12/ interferon gamma receptor deficiency, nuclear factor kappa-beta essential modulator deficiency and chronic granulomatosis disease were evaluated retrospectively in terms of the frequency and characteristics of mycobacterial infections using a questionnaire form for demographic properties, clinical features and laboratory tests...
September 2017: Türk Pediatri Arşivi
https://www.readbyqxmd.com/read/29057740/reversible-hypogammaglobulinemia-in-2-pediatric-patients-with-primary-immunodeficiency
#20
S Pasic
No abstract text is available yet for this article.
2017: Journal of Investigational Allergology & Clinical Immunology
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