Works matching DE "PRIMARY immunodeficiency diseases"

Results: 943
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    Predominantly antibody deficiency: case report.

    Published in:
    Brazilian Journal of Mother & Child Health (BJMCH) / Revista Brasileira de Saude Materno Infantil (RBSMI), 2023, v. 23, p. 1, doi. 10.1590/1806-9304202300000259-en
    By:
    • Jerônimo de Morais, Louyse;
    • de Macedo Silva, Beatriz Brasileiro;
    • Cezar Brito, Luís Alfredo;
    • Pontes de Lemos, Luíza Alcântara;
    • Soares Lustosa, Matheus;
    • D'Azevedo Carneiro, Rafaela Ribeiro;
    • Paes Correa Lima, Renata de Cerqueira;
    • Gomes Aragão, Tainá;
    • Márcia da Nóbrega, Veriana
    Publication type:
    Article
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    PI4K2A deficiency causes innate error in intracellular trafficking with developmental and epileptic-dyskinetic encephalopathy.

    Published in:
    Annals of Clinical & Translational Neurology, 2022, v. 9, n. 9, p. 1345, doi. 10.1002/acn3.51634
    By:
    • Dafsari, Hormos Salimi;
    • Pemberton, Joshua G.;
    • Ferrer, Elizabeth A.;
    • Yammine, Tony;
    • Farra, Chantal;
    • Mohammadi, Mohammad Hasan;
    • Karimiani, Ehsan Ghayoor;
    • Hashemi, Narges;
    • Souaid, Mirna;
    • Sabbagh, Sandra;
    • Torbati, Paria Najarzadeh;
    • Khan, Suliman;
    • Roze, Emmanuel;
    • Moreno-De-Luca, Andres;
    • Bertoli-Avella, Aida M.;
    • Houlden, Henry;
    • Balla, Tamas;
    • Maroofian, Reza
    Publication type:
    Article
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    Activated phosphoinositide 3‐dinase delta syndrome (APDS): An update.

    Published in:
    Pediatric Allergy & Immunology, 2022, v. 33, p. 69, doi. 10.1111/pai.13634
    By:
    • Lougaris, Vassilios;
    • Cancrini, Caterina;
    • Rivalta, Beatrice;
    • Castagnoli, Riccardo;
    • Giardino, Giuliana;
    • Volpi, Stefano;
    • Leonardi, Lucia;
    • La Torre, Francesco;
    • Federici, Silvia;
    • Corrente, Stefania;
    • Cinicola, Bianca Laura;
    • Soresina, Annarosa;
    • Marseglia, Gian Luigi;
    • Cardinale, Fabio
    Publication type:
    Article
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    Primary atopic disorders and chronic skin disease.

    Published in:
    Pediatric Allergy & Immunology, 2022, v. 33, p. 65, doi. 10.1111/pai.13633
    By:
    • Cinicola, Bianca Laura;
    • Corrente, Stefania;
    • Castagnoli, Riccardo;
    • Lougaris, Vassilios;
    • Giardino, Giuliana;
    • Leonardi, Lucia;
    • Volpi, Stefano;
    • La Torre, Francesco;
    • Federici, Silvia;
    • Soresina, Annarosa;
    • Cancrini, Caterina;
    • Marseglia, Gian Luigi;
    • Cardinale, Fabio;
    • Licari, Amelia
    Publication type:
    Article
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    Activated phosphoinositide 3‐dinase delta syndrome (APDS): An update.

    Published in:
    Pediatric Allergy & Immunology, 2022, v. 33, p. 69, doi. 10.1111/pai.13634
    By:
    • Lougaris, Vassilios;
    • Cancrini, Caterina;
    • Rivalta, Beatrice;
    • Castagnoli, Riccardo;
    • Giardino, Giuliana;
    • Volpi, Stefano;
    • Leonardi, Lucia;
    • La Torre, Francesco;
    • Federici, Silvia;
    • Corrente, Stefania;
    • Cinicola, Bianca Laura;
    • Soresina, Annarosa;
    • Marseglia, Gian Luigi;
    • Cardinale, Fabio
    Publication type:
    Article
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    Primary atopic disorders and chronic skin disease.

    Published in:
    Pediatric Allergy & Immunology, 2022, v. 33, p. 65, doi. 10.1111/pai.13633
    By:
    • Cinicola, Bianca Laura;
    • Corrente, Stefania;
    • Castagnoli, Riccardo;
    • Lougaris, Vassilios;
    • Giardino, Giuliana;
    • Leonardi, Lucia;
    • Volpi, Stefano;
    • La Torre, Francesco;
    • Federici, Silvia;
    • Soresina, Annarosa;
    • Cancrini, Caterina;
    • Marseglia, Gian Luigi;
    • Cardinale, Fabio;
    • Licari, Amelia
    Publication type:
    Article
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    Novel mutations of TYK2 leading to divergent clinical phenotypes.

    Published in:
    Pediatric Allergy & Immunology, 2022, v. 33, n. 1, p. 1, doi. 10.1111/pai.13671
    By:
    • Lv, Ge;
    • Sun, Gan;
    • Wu, Peilin;
    • Du, Xiao;
    • Zeng, Ting;
    • Wen, Wen;
    • Zhou, Lina;
    • An, Yunfei;
    • Tang, Xuemei;
    • He, Tingyan;
    • Zhao, Xiaodong;
    • Du, Hongqiang;
    • Candotti, Fabio
    Publication type:
    Article
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    Selective IgM deficiency: Follow‐up and outcome.

    Published in:
    Pediatric Allergy & Immunology, 2021, v. 32, n. 6, p. 1327, doi. 10.1111/pai.13497
    By:
    • Caka, Canan;
    • Cimen, Ozlem;
    • Kahyaoğlu, Pinar;
    • Tezcan, İlhan;
    • Cagdas, Deniz;
    • Atanaskovic‐Markovic, Marina
    Publication type:
    Article
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    Infectious complications after hematopoietic stem cell transplantation for primary immunodeficiency in children: A multicenter nationwide study.

    Published in:
    Pediatric Allergy & Immunology, 2020, v. 31, n. 5, p. 537, doi. 10.1111/pai.13239
    By:
    • Zając‐Spychała, Olga;
    • Zaucha‐Prażmo, Agnieszka;
    • Zawitkowska, Joanna;
    • Wachowiak, Jacek;
    • Kowalczyk, Jerzy R.;
    • Frączkiewicz, Jowita;
    • Salamonowicz, Malgorzata;
    • Kałwak, Krzysztof;
    • Gorczyńska, Ewa;
    • Chybicka, Alicja;
    • Czyżewski, Krzysztof;
    • Dziedzic, Magdalena;
    • Wysocki, Mariusz;
    • Zalas‐Więcek, Patrycja;
    • Goździk, Jolanta;
    • Styczyński, Jan;
    • Atanaskovic‐Markovic, Marina
    Publication type:
    Article
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    Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings.

    Published in:
    Frontiers in Immunology, 2019, p. 1, doi. 10.3389/fimmu.2019.02325
    By:
    • Rudilla, Francesc;
    • Franco-Jarava, Clara;
    • Martínez-Gallo, Mónica;
    • Garcia-Prat, Marina;
    • Martín-Nalda, Andrea;
    • Rivière, Jacques;
    • Aguiló-Cucurull, Aina;
    • Mongay, Laura;
    • Vidal, Francisco;
    • Solanich, Xavier;
    • Irastorza, Iñaki;
    • Santos-Pérez, Juan Luis;
    • Tercedor Sánchez, Jesús;
    • Cuscó, Ivon;
    • Serra, Clara;
    • Baz-Redón, Noelia;
    • Fernández-Cancio, Mónica;
    • Carreras, Carmen;
    • Vagace, José Manuel;
    • Garcia-Patos, Vicenç
    Publication type:
    Article
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    The German National Registry of Primary Immunodeficiencies (2012–2017).

    Published in:
    Frontiers in Immunology, 2019, p. 1, doi. 10.3389/fimmu.2019.01272
    By:
    • El-Helou, Sabine M.;
    • Biegner, Anika-Kerstin;
    • Bode, Sebastian;
    • Ehl, Stephan R.;
    • Heeg, Maximilian;
    • Maccari, Maria E.;
    • Ritterbusch, Henrike;
    • Speckmann, Carsten;
    • Rusch, Stephan;
    • Scheible, Raphael;
    • Warnatz, Klaus;
    • Atschekzei, Faranaz;
    • Beider, Renata;
    • Ernst, Diana;
    • Gerschmann, Stev;
    • Jablonka, Alexandra;
    • Mielke, Gudrun;
    • Schmidt, Reinhold E.;
    • Schürmann, Gesine;
    • Sogkas, Georgios
    Publication type:
    Article
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    Infectious consequences of the AKI-to-CKD transition.

    Published in:
    Clinical Kidney Journal, 2022, v. 15, n. 12, p. 2237, doi. 10.1093/ckj/sfac178
    By:
    • Horrillo, Ana Sánchez;
    • Villanueva, Laura Salanova;
    • Cárdenas, Alicia Cabrera;
    • Ramos, Patricia Muñoz;
    • Ortiz, Alberto;
    • Quiroga, Borja
    Publication type:
    Article
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    Clinical, immunological and molecular profiles of DOCK8 deficiency in six patients from a tertiary care centre in North India.

    Published in:
    Clinical & Experimental Dermatology, 2024, v. 49, n. 3, p. 226, doi. 10.1093/ced/llad345
    By:
    • Jindal, Ankur Kumar;
    • Sil, Archan;
    • Aggarwal, Ridhima;
    • Tyagi, Rahul;
    • Mondal, Sanjib;
    • Singh, Ankita;
    • Barman, Prabal;
    • Chawla, Sanchi;
    • Loganathan, Sathish Kumar;
    • Gupta, Kirti;
    • Vinay, Keshavamurthy;
    • Mahajan, Rahul;
    • Saikia, Biman;
    • Kaur, Gurjeet;
    • Sharma, Rajni;
    • Saka, Ruchi;
    • Bhatia, Anmol;
    • Sankhyan, Naveen;
    • Pandiarajan, Vignesh;
    • Pilania, Rakesh
    Publication type:
    Article
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    Clinical Profile and Outcomes of Primary Immunodeficiency and Malignancy in Childhood at a Tertiary Oncology Center in Developing Country.

    Published in:
    Pediatric Hematology & Oncology, 2022, v. 39, n. 7, p. 600, doi. 10.1080/08880018.2022.2045408
    By:
    • Özyörük, Derya;
    • Güzelküçük, Zeliha;
    • Metin, Ayse;
    • Emir, Suna;
    • Yazal Erdem, Arzu;
    • Kacar, Dilek;
    • Koca Yozgat, Ayca;
    • Aker, Can Baris;
    • Çakmakçı, Selma;
    • Özdemir, Sonay Incesoy;
    • Sari, Neriman;
    • Cihan, Meriç Kaymak;
    • Özbek, Namık Yasar;
    • İlhan, İnci Ergürhan
    Publication type:
    Article
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