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  1. AU="Yiyi, L"
  2. AU="Siles, Francisco"
  3. AU="Song, Sin-Mao"
  4. AU="Yaxuan He"
  5. AU="Wu, Jiaojie"
  6. AU="Tze Kwun Ng"
  7. AU="Leonard L Yeo"

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  1. Article: Mycophenolate mofetil for autoimmune cytopenias in children: high rates of response in inborn errors of immunity.

    Berrueco, Rubén / González-Forster, Elisa / Deya-Martinez, Angela / Solsona, María / García-García, Ana / Calzada-Hernández, Joan / Yiyi, Luo / Vlagea, Alexandru / Ruiz-Llobet, Anna / Alsina, Laia

    Frontiers in pediatrics

    2023  Volume 11, Page(s) 1174671

    Abstract: Second-line treatments of autoimmune cytopenias (AC) are not well-defined in children. Mycophenolate mofetil (MMF) is an immunosuppressant agent that has been demonstrated to be safe and effective in this setting. A retrospective observational study was ... ...

    Abstract Second-line treatments of autoimmune cytopenias (AC) are not well-defined in children. Mycophenolate mofetil (MMF) is an immunosuppressant agent that has been demonstrated to be safe and effective in this setting. A retrospective observational study was conducted in 18 children with prolonged AC who received MMF, in order to describe clinical and biological markers of response. The overall response rate of MMF at 20-30 mg/kg per day was 73.3%. All patients with Evans syndrome (
    Language English
    Publishing date 2023-10-17
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2711999-3
    ISSN 2296-2360
    ISSN 2296-2360
    DOI 10.3389/fped.2023.1174671
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Primary immunodeficiency and chronic mucocutaneous candidiasis: pathophysiological, diagnostic, and therapeutic approaches.

    Egri, Natalia / Esteve-Solé, Ana / Deyà-Martínez, Àngela / Ortiz de Landazuri, Iñaki / Vlagea, Alexandru / García, A P / Cardozo, Celia / Garcia-Vidal, Carolina / Bartolomé, Clara San / Español-Rego, Marta / Yiyi, L / Bosch-Amate, Xavier / Ferrando, J / Yagüe, Jordi / Juan, Manel / Alsina, Laia

    Allergologia et immunopathologia

    2021  Volume 49, Issue 1, Page(s) 118–127

    Abstract: Chronic mucocutaneous candidiasis (CMC) is characterized by a chronic or recurrent non-invasive infection, mainly due ... ...

    Abstract Chronic mucocutaneous candidiasis (CMC) is characterized by a chronic or recurrent non-invasive infection, mainly due to
    MeSH term(s) Azoles/therapeutic use ; Candida/immunology ; Candida/isolation & purification ; Candidiasis, Chronic Mucocutaneous/diagnosis ; Candidiasis, Chronic Mucocutaneous/genetics ; Candidiasis, Chronic Mucocutaneous/immunology ; Candidiasis, Chronic Mucocutaneous/therapy ; Humans ; Interleukin-17/genetics ; Interleukin-17/immunology ; Janus Kinase Inhibitors/therapeutic use ; Mutation ; Primary Immunodeficiency Diseases/diagnosis ; Primary Immunodeficiency Diseases/genetics ; Primary Immunodeficiency Diseases/immunology ; Primary Immunodeficiency Diseases/therapy ; STAT1 Transcription Factor/genetics ; STAT1 Transcription Factor/immunology ; Th17 Cells/immunology ; Th17 Cells/pathology
    Chemical Substances Azoles ; Interleukin-17 ; Janus Kinase Inhibitors ; STAT1 Transcription Factor ; STAT1 protein, human
    Language English
    Publishing date 2021-01-02
    Publishing country Singapore
    Document type Journal Article ; Review
    ZDB-ID 193144-1
    ISSN 1578-1267 ; 0301-0546
    ISSN (online) 1578-1267
    ISSN 0301-0546
    DOI 10.15586/aei.v49i1.20
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 1165: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  3. Article ; Online: COVID-19 in children and young adults with moderate/severe inborn errors of immunity in a high burden area in pre-vaccine era.

    Deyà-Martínez, A / García-García, A / Gonzalez-Navarro, E A / Yiyi, L / Vlagea, A / Jordan, I / Fumadó, V / Fortuny, C / Español, M / Launes, C / Esteve-Solé, A / Juan, M / Pascal, M / Alsina, L

    Clinical immunology (Orlando, Fla.)

    2021  Volume 230, Page(s) 108821

    Abstract: Background: Information regarding inborn error of immunity (IEI) as a risk factor for severe COVID-19 is scarce. We aimed to determine if paediatric patients with moderate/severe IEI got COVID-19 at the same level as the general population, and to ... ...

    Abstract Background: Information regarding inborn error of immunity (IEI) as a risk factor for severe COVID-19 is scarce. We aimed to determine if paediatric patients with moderate/severe IEI got COVID-19 at the same level as the general population, and to describe COVID-19 expression.
    Material and methods: We included patients with moderate/severe IEI aged 0-21 years old: cross-sectional study (June2020) to determine the prevalence of COVID-19; prospective study (January2020-January2021) including IEI patients with COVID-19. Assays used: nasopharyngeal swab SARS-CoV-2 PCR and SARS-CoV-2-specific immunoglobulins.
    Results: Seven from sixty-five patients tested positive (prevalence: 10.7% (7%-13%)) after the first SARS-COV-2 wave and 13/15 patients diagnosed with COVID-19 had an asymptomatic/mild course.
    Conclusions: In our area, prevalence of COVID-19 in moderate/severe IEI paediatric patients after the first wave was slightly higher than in the general population. The majority of patients presented a benign course, suggesting a possible protective factor related with age despite IEI.
    MeSH term(s) Adolescent ; COVID-19/complications ; Child ; Child, Preschool ; Cross-Sectional Studies ; Female ; Humans ; Infant ; Male ; Prevalence ; Primary Immunodeficiency Diseases/complications ; SARS-CoV-2 ; Young Adult
    Language English
    Publishing date 2021-08-12
    Publishing country United States
    Document type Journal Article
    ZDB-ID 1459903-x
    ISSN 1521-7035 ; 1521-6616
    ISSN (online) 1521-7035
    ISSN 1521-6616
    DOI 10.1016/j.clim.2021.108821
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 880: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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  4. Article ; Online: Novel PGM3 compound heterozygous variants with IgE-related dermatitis, lymphopenia, without syndromic features.

    García-García, Ana / Buendia Arellano, Monserrat / Deyà-Martínez, Àngela / Lozano Blasco, Jaime / Serrano, Mercedes / Van Den Rym, Ana / García-Solis, Blanca / Esteve-Solé, Ana / Yiyi, Luo / Vlagea, Alexandru / Solanich, Xavier / Fisher, Megan R / Lyons, Jonathan J / de Diego, Rebeca Pérez / Alsina, Laia

    Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology

    2020  Volume 32, Issue 3, Page(s) 566–575

    Abstract: Background: Phosphoglucomutase-3 (PGM3) deficiency is a congenital disorder of glycosylation (CDG) with hyperimmunoglobulin IgE, atopy, and a variable immunological phenotype; most reported patients display dysmorphic features. The aim of the study was ... ...

    Abstract Background: Phosphoglucomutase-3 (PGM3) deficiency is a congenital disorder of glycosylation (CDG) with hyperimmunoglobulin IgE, atopy, and a variable immunological phenotype; most reported patients display dysmorphic features. The aim of the study was to characterize the genotype and phenotype of individuals with newly identified compound heterozygous variants in the phosphate-binding domain of PGM3 in order to better understand phenotypic differences between these patients and published cases.
    Methods: We analyzed PGM3 protein expression, PGM3 enzymatic activity, the presence of other gene variants within the N-glycosylation pathway, and the clinical and immunological manifestations of two affected siblings.
    Results: Patients belonged to a non-consanguineous family, presenting with atopic dermatitis, elevated levels of IgE, and CD4
    Conclusions: Our analysis revealed that L-PHA binding is reduced in naïve-CD4+ cells, which is consistent with decreased residual PGM3 enzymatic activity. Other gene variants in the N-glycosylation pathway may modify patient phenotypes in PGM3 deficiency. This study expands the clinical criteria for when PGM3 deficiency should be considered among individuals with hyper-IgE.
    MeSH term(s) Dermatitis ; Humans ; Immunoglobulin E ; Lymphopenia ; Mutation ; Phenotype ; Phosphoglucomutase/genetics
    Chemical Substances Immunoglobulin E (37341-29-0) ; PGM3 protein, human (EC 5.4.2.2) ; Phosphoglucomutase (EC 5.4.2.2)
    Language English
    Publishing date 2020-11-06
    Publishing country England
    Document type Journal Article ; Research Support, N.I.H., Intramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 1057059-7
    ISSN 1399-3038 ; 0905-6157 ; 0906-5784
    ISSN (online) 1399-3038
    ISSN 0905-6157 ; 0906-5784
    DOI 10.1111/pai.13398
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 3096: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
    bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular
    Jg. 1995 - 2021: Lesesall (2.OG)
    ab Jg. 2022: Lesesaal (EG)

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