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  • Autoimmune and inflammatory... Autoimmune and inflammatory manifestations occur frequently in patients with primary immunodeficiencies
    Fischer, Alain, MD, PhD; Provot, Johan, MSc; Jais, Jean-Philippe, MD, PhD ... Journal of allergy and clinical immunology, 11/2017, Volume: 140, Issue: 5
    Journal Article
    Peer reviewed
    Open access

    Background Primary immunodeficiencies (PIDs) are inherited diseases associated with a considerable increase in susceptibility to infections. It is known that PIDs can also predispose to cancer and ...
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  • Evidence of innate lymphoid cell redundancy in humans
    Vély, Frédéric; Barlogis, Vincent; Vallentin, Blandine ... Nature immunology, 11/2016, Volume: 17, Issue: 11
    Journal Article
    Peer reviewed
    Open access

    Innate lymphoid cells (ILCs) have potent immunological functions in experimental conditions in mice, but their contributions to immunity in natural conditions in humans have remained unclear. We ...
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  • Incidence, presentation, an... Incidence, presentation, and prognosis of malignancies in ataxia-telangiectasia: a report from the French national registry of primary immune deficiencies
    Suarez, Felipe; Mahlaoui, Nizar; Canioni, Danielle ... Journal of clinical oncology, 01/2015, Volume: 33, Issue: 2
    Journal Article
    Peer reviewed
    Open access

    Biallelic mutations in ATM cause ataxia-telangiectasia (AT), a rare inherited disease with a high incidence of cancer. Precise estimates of the risk, presentation, and outcomes of cancer in patients ...
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  • The burden of common variab... The burden of common variable immunodeficiency disorders: a retrospective analysis of the European Society for Immunodeficiency (ESID) registry data
    Odnoletkova, Irina; Kindle, Gerhard; Quinti, Isabella ... Orphanet journal of rare diseases, 11/2018, Volume: 13, Issue: 1
    Journal Article
    Peer reviewed
    Open access

    Common variable immunodeficiency disorders (CVID) are a group of rare innate disorders characterized by specific antibody deficiency and increased rates of infections, comorbidities and mortality. ...
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  • The NEW ESID online databas... The NEW ESID online database network
    Scheible, Raphael; Rusch, Stephan; Guzman, David ... Bioinformatics (Oxford, England), 12/2019, Volume: 35, Issue: 24
    Journal Article
    Peer reviewed

    Primary Immunodeficiencies (PIDs) belong to the group of rare diseases. The European Society for Immunodeficiencies (ESID) operates an international research database application for continuous ...
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  • Congenital neutropenia: dia... Congenital neutropenia: diagnosis, molecular bases and patient management
    Donadieu, Jean; Fenneteau, Odile; Beaupain, Blandine ... Orphanet journal of rare diseases, 05/2011, Volume: 6, Issue: 1
    Journal Article
    Peer reviewed
    Open access

    The term congenital neutropenia encompasses a family of neutropenic disorders, both permanent and intermittent, severe (<0.5 G/l) or mild (between 0.5-1.5 G/l), which may also affect other organ ...
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  • Universal Newborn Screening... Universal Newborn Screening for Severe Combined Immunodeficiency (SCID)
    van der Burg, Mirjam; Mahlaoui, Nizar; Gaspar, Hubert Bobby ... Frontiers in pediatrics, 09/2019, Volume: 7
    Journal Article
    Peer reviewed
    Open access

    Patients with severe combined immunodeficiency (SCID) are born with profound deficiency of functional T-lymphocytes. Early detection and diagnosis would allow for prompt institution of isolation from ...
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  • Pitfalls in time-to-event a... Pitfalls in time-to-event analysis of registry data: a tutorial based on simulated and real cases
    Alligon, Mickaël; Mahlaoui, Nizar; Bouaziz, Olivier Frontiers in Epidemiology (Online), 7/2024, Volume: 4
    Journal Article
    Peer reviewed
    Open access

    Survival analysis (also referred to as time-to-event analysis) is the study of the time elapsed from a starting date to some event of interest. In practice, these analyses can be challenging and, if ...
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  • Inflammatory manifestations... Inflammatory manifestations in a single-center cohort of patients with chronic granulomatous disease
    Magnani, Alessandra, MD, PhD; Brosselin, Pauline, MD, MPH; Beauté, Julien, MD, MSc, MPH ... Journal of allergy and clinical immunology, 09/2014, Volume: 134, Issue: 3
    Journal Article
    Peer reviewed
    Open access

    Background Chronic granulomatous disease (CGD) is a rare phagocytic disorder that results in not only infections but also potentially severe inflammatory manifestations that can be difficult to ...
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  • Neutrophil depletion impair... Neutrophil depletion impairs natural killer cell maturation, function, and homeostasis
    Jaeger, Baptiste N; Donadieu, Jean; Cognet, Céline ... The Journal of experimental medicine, 03/2012, Volume: 209, Issue: 3
    Journal Article
    Peer reviewed
    Open access

    Natural killer (NK) cells are bone marrow (BM)-derived granular lymphocytes involved in immune defense against microbial infections and tumors. In an N-ethyl N-nitrosourea (ENU) mutagenesis strategy, ...
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