Works matching DE "IMMUNODEFICIENCY"


Results: 5000
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    A murine model lacking Lyst recapitulates Chediak-Higashi syndrome with an earlier-onset neurodegenerative phenotype.

    Published in:
    Communications Biology, 2025, v. 8, n. 1, p. 1, doi. 10.1038/s42003-025-08482-1
    By:
    • Greene, Sunny;
    • Talbert, Mackenzie L.;
    • Frost, F. Graeme;
    • Zerfas, Patricia M.;
    • Springer, Danielle;
    • Noguchi, Audrey;
    • Morimoto, Marie;
    • Maynard, Dawn;
    • Garrett, Lisa;
    • Elliot, Gene;
    • Traver, Maria;
    • Yarnell, David;
    • Leoyklang, Petcharat;
    • Burke, John D.;
    • Nicoli, Elena-Raluca;
    • Gahl, William A.;
    • Introne, Wendy J.;
    • Malicdan, May Christine V.
    Publication type:
    Article
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    Cardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohort.

    Published in:
    Frontiers in Immunology, 2025, p. 1, doi. 10.3389/fimmu.2025.1598896
    By:
    • Di Majo, Benedetta Elena;
    • Leoni, Chiara;
    • Cartisano, Eleonora;
    • Fossati, Chiara;
    • Viscogliosi, Germana;
    • Trevisan, Valentina;
    • Bruno, Lucia Pia;
    • Conti, Francesca;
    • Moratti, Mattia;
    • Monaco, Emilia;
    • Rigante, Donato;
    • Rivalta, Beatrice;
    • Cancrini, Caterina;
    • Szczawińska-Popłonyk, Aleksandra;
    • Jamsheer, Aleksander;
    • Obara-Moszyńska, Monika;
    • Zakharova, Viktoria;
    • Shcherbina, Anna;
    • Rodina, Julija;
    • Tüysüz, Beyhan
    Publication type:
    Article
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    Nutritional status and metabolic alterations in patients with ataxia-telangiectasia.

    Published in:
    Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03785-2
    By:
    • de Leon, Cristiano do Amaral;
    • Amantea, Sérgio Luis;
    • Pereira, Renan Augusto;
    • Dantas, Ellen O.;
    • Loekmanwidjaja, Jéssica;
    • Costa-Carvalho, Beatriz T.;
    • Mazzucchelli, Juliana T. L.;
    • Aranda, Carolina S.;
    • González-Serrano, Maria E.;
    • De La Cruz Córdoba, Elizabeth Alejandra;
    • Bezrodnik, Liliana;
    • Moreira, Ileana;
    • Ferreira, Janaira F. S.;
    • Dantas, Vera M.;
    • Sales, Valéria S. F.;
    • Navarrete, Carmen L.;
    • Vilela, Maria M. S.;
    • Motta, Isabella P.;
    • Franco, Jose Luis;
    • Arango, Julio Cesar Orrego
    Publication type:
    Article
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    Molecular Pathogenesis of EBV Susceptibility in XLP as Revealed by Analysis of Female Carriers with Heterozygous Expression of SAP.

    Published in:
    PLoS Biology, 2011, v. 9, n. 11, p. 1, doi. 10.1371/journal.pbio.1001187
    By:
    • Palendira, Umaimainthan;
    • Low, Carol;
    • Chan, Anna;
    • Hislop, Andrew D.;
    • Ho, Edwin;
    • Tri Giang Phan;
    • Deenick, Elissa;
    • Cook, Matthew C.;
    • Riminton, D. Sean;
    • Choo, Sharon;
    • Loh, Richard;
    • Alvaro, Frank;
    • Booth, Claire;
    • Gaspar, H. Bobby;
    • Moretta, Alessandro;
    • Khanna, Rajiv;
    • Rickinson, Alan B.;
    • Tangye, Stuart G.
    Publication type:
    Article
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    FISH spots microdeletion in heart defects.

    Published in:
    Microscopy & Microanalysis, 2009, v. 15, n. S3, p. 5, doi. 10.1017/S1431927609990481
    By:
    • Ferraz-Gameiro, P.;
    • Ferrão, J.;
    • Mendes, C.;
    • Pires, L. M.;
    • Matoso, E.;
    • Carreira, I. M.
    Publication type:
    Article
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    Extraspinal tuberculous arthritis in HIV era.

    Published in:
    Clinical Rheumatology, 2007, v. 26, n. 3, p. 319, doi. 10.1007/s10067-006-0296-0
    By:
    • Lertsrisatit, P.;
    • Nantiruj, K.;
    • Totemchokchyakam, K.;
    • Janwityanujit, S.
    Publication type:
    Article
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    Amphotericin B.

    Published in:
    Applied Microbiology & Biotechnology, 2005, v. 68, n. 2, p. 151, doi. 10.1007/s00253-005-1955-9
    By:
    • Lemke, A.;
    • Kiderlen, A. F.;
    • Kayser, O.
    Publication type:
    Article
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