Works matching Severe combined immunodeficiency


Results: 2602
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    NEWBORN SCREENING FOR SEVERE COMBINED IMMUNODEFICIENCIES USING TRECS AND KRECS: SECOND PILOT STUDY IN BRAZIL.

    Published in:
    Revista Paulista de Pediatria, 2017, v. 35, n. 1, p. 25, doi. 10.1590/1984-0462/;2017;35;1;00013
    By:
    • Kanegae, Marilia Pyles P.;
    • Akune Barreiros, Lucila;
    • Lira Sousa, Jusley;
    • Brito, Marco Antônio S.;
    • de Oliveira Junior, Edgar Borges;
    • Pereira Soares, Lara;
    • Mazzucchelli, Juliana Themudo L.;
    • Quiorato Fernandes, Débora;
    • Marchezi Hadachi, Sonia;
    • Maia Holanda, Silvia;
    • Guimarães, Flavia Alice T. M.;
    • Boacnin, Maura Aparecida P. V. V.;
    • Pereira, Marley Aparecida L.;
    • Bueno, Joaquina Maria C.;
    • Sevciovic Grumach, Anete;
    • Di Gesu, Regina Sumiko W.;
    • dos Santos, Amélia Miyashiro N.;
    • Bellesi, Newton;
    • Costa-Carvalho, Beatriz T.;
    • Condino-Neto, Antonio
    Publication type:
    Article
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    Inmunodeficiencia combinada severa (SCID) en Neiva, Colombia. Reporte de caso.

    Published in:
    Revista Facultad de Medicina de la Universidad Nacional de Colombia, 2019, v. 67, n. 1, p. 161, doi. 10.15446/revfacmed.v67n1.56918
    By:
    • Patricia Ortiz-Polanco, Silvia;
    • Mercedes Castañeda-Uvajoa, Diana;
    • Rocío Vega, Martha;
    • Cecilia Salgado, Doris Martha;
    • Fernando Narváez, Carlos;
    • Antonio Rodríguez, Jairo
    Publication type:
    Article
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    Two Novel Homozygous Mutations in Phosphoglucomutase 3 Leading to Severe Combined Immunodeficiency, Skeletal Dysplasia, and Malformations.

    Published in:
    Journal of Clinical Immunology, 2021, v. 41, n. 5, p. 958, doi. 10.1007/s10875-021-00985-w
    By:
    • Fusaro, Mathieu;
    • Vincent, Aline;
    • Castelle, Martin;
    • Rosain, Jérémie;
    • Fournier, Benjamin;
    • Veiga-da-Cunha, Maria;
    • Kentache, Takfarinas;
    • Serre, Jill;
    • Fallet-Bianco, Catherine;
    • Delezoide, Anne-Lise;
    • Renesme, Laurent;
    • Picard, Fanny Morice;
    • Lasseaux, Eulalie;
    • Aladjidi, Nathalie;
    • Seta, Nathalie;
    • Cormier-Daire, Valérie;
    • Schaftingen, Emile van;
    • Neven, Bénédicte;
    • Moshous, Despina;
    • Blesson, Sophie
    Publication type:
    Article
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    Clinical, Immunological, and Molecular Features of Typical and Atypical Severe Combined Immunodeficiency: Report of the Italian Primary Immunodeficiency Network.

    Published in:
    Frontiers in Immunology, 2019, p. 1, doi. 10.3389/fimmu.2019.01908
    By:
    • Cirillo, Emilia;
    • Cancrini, Caterina;
    • Azzari, Chiara;
    • Martino, Silvana;
    • Martire, Baldassarre;
    • Pession, Andrea;
    • Tommasini, Alberto;
    • Naviglio, Samuele;
    • Finocchi, Andrea;
    • Consolini, Rita;
    • Pierani, Paolo;
    • D'Alba, Irene;
    • Putti, Maria Caterina;
    • Marzollo, Antonio;
    • Giardino, Giuliana;
    • Prencipe, Rosaria;
    • Esposito, Federica;
    • Grasso, Fiorentino;
    • Scarselli, Alessia;
    • Di Matteo, Gigliola
    Publication type:
    Article
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    T Cell Lymphoma and Leukemia in Severe Combined Immunodeficiency Pigs following Bone Marrow Transplantation: A Case Report.

    Published in:
    Frontiers in Immunology, 2017, p. 1, doi. 10.3389/fimmu.2017.00813
    By:
    • Powell, Ellis J.;
    • Graham, Jared;
    • Ellinwood, N. M.;
    • Hostetter, Jesse;
    • Yaeger, Michael;
    • Chak-Sum Ho;
    • Gault, Lynden;
    • Norlin, Veronica;
    • Snella, Elizabeth N.;
    • Jens, Jackie;
    • Waide, Emily H.;
    • Boettcher, Adeline N.;
    • Kerrigan, Maureen;
    • Rowland, Raymond R. R.;
    • Ross, Jason W.;
    • Dekkers, Jack C. M.;
    • Tuggle, Christopher K.
    Publication type:
    Article
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    Pneumothorax in patients with severe combined immunodeficiency.

    Published in:
    Pediatrics International, 2014, v. 56, n. 4, p. 510, doi. 10.1111/ped.12325
    By:
    • Hoshino, Akihiro;
    • Imai, Kohsuke;
    • Ohshima, Yusei;
    • Yasutomi, Motoko;
    • Kasai, Masashi;
    • Terai, Masaru;
    • Ishigaki, Keiko;
    • Morio, Tomohiro;
    • Miyawaki, Toshio;
    • Kanegane, Hirokazu
    Publication type:
    Article
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    The effects of postponing BCG vaccination on the risk of BCG-related complications among patients with severe combined immunodeficiency disease in Saudi Arabia.

    Published in:
    Frontiers in Immunology, 2025, p. 1, doi. 10.3389/fimmu.2025.1596963
    By:
    • Aldhaheri, Amal;
    • Alyabes, Ohoud;
    • Aljumaah, Suliman;
    • Alhuthil, Raghad;
    • Alonazi, Raghad;
    • Alamoudi, Shefa;
    • Alsuhaibani, Mohammed;
    • Alghamdi, Salem;
    • Albanyan, Esam A.;
    • Al-Hajjar, Sami;
    • Mohammed, Reem;
    • Arnaout, Rand;
    • Albuhairi, Sultan;
    • Alrumayyan, Nora;
    • Al-Saud, Bandar;
    • Al-Mousa, Hamoud
    Publication type:
    Article
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    Perspectives in newborn screening for SCID in Japan. Case report: newborn screening identified X-linked severe combined immunodeficiency with a novel IL2RG variant.

    Published in:
    Frontiers in Immunology, 2024, p. 1, doi. 10.3389/fimmu.2024.1478411
    By:
    • Beppu, Shiro;
    • Nishikawa, Takuro;
    • Tomomasa, Dan;
    • Hijikata, Atsushi;
    • Kasabata, Hiroshi;
    • Terazono, Hideyuki;
    • Ikawa, Kazuro;
    • Nakamura, Tatsuro;
    • Horikawa, Shogo;
    • Nagahama, Jun;
    • Nakamura, Aki;
    • Abematsu, Takanari;
    • Nakagawa, Shunsuke;
    • Oketani, Kaoru;
    • Kanegane, Hirokazu;
    • Okamoto, Yasuhiro
    Publication type:
    Article
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    Severe Combined Immunodeficiency: A Case Series and Review from a Tertiary Pediatric Hospital.

    Published in:
    2018
    By:
    • Fallah, Shahrzad;
    • Mesdaghi, Mehrnaz;
    • Mansouri, Mahboubeh;
    • Babaei, Delara;
    • Karimi, Abdollah;
    • Fahimzad, SeyedAlireza;
    • Armin, Shahnaz;
    • Tabatabaei, Sedigheh Rafiei;
    • Azma, Roxana;
    • Khanbabaee, Ghamartaj;
    • Bashardoost, Bahram;
    • Amirmoeini, Mehrdad;
    • Sadr, Saeed;
    • Jalilianhasanpour, Rozita;
    • Ghanaei, Roxana;
    • Rezaei, Nima;
    • Chavoshzadeh, Zahra;
    • Fahimzad, Seyed Alireza;
    • Rafiei Tabatabaei, Sedigheh
    Publication type:
    journal article
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    Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency.

    Published in:
    Frontiers in Immunology, 2020, v. 11, p. 1, doi. 10.3389/fimmu.2020.01417
    By:
    • Strand, Janne;
    • Gul, Kiran Aftab;
    • Erichsen, Hans Christian;
    • Lundman, Emma;
    • Berge, Mona C.;
    • Trømborg, Anette K.;
    • Sørgjerd, Linda K.;
    • Ytre-Arne, Mari;
    • Hogner, Silje;
    • Halsne, Ruth;
    • Gaup, Hege Junita;
    • Osnes, Liv T.;
    • Kro, Grete A. B.;
    • Sorte, Hanne S.;
    • Mørkrid, Lars;
    • Rowe, Alexander D.;
    • Tangeraas, Trine;
    • Jørgensen, Jens V.;
    • Alme, Charlotte;
    • Bjørndalen, Trude E. H.
    Publication type:
    Article