Works matching Severe combined immunodeficiency

Results: 2518
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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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    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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    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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    Atypical Hemolytic Uremic Syndrome (aHUS) and Adenosine Deaminase (ADA)-Deficient Severe Combined Immunodeficiency (SCID)—Two Diseases That Exacerbate Each Other: Case Report.

    Published in:
    International Journal of Molecular Sciences, 2021, v. 22, n. 17, p. 9479, doi. 10.3390/ijms22179479
    By:
    • Bogdał, Anna;
    • Badeński, Andrzej;
    • Pac, Małgorzata;
    • Wójcicka, Anna;
    • Badeńska, Marta;
    • Didyk, Agnieszka;
    • Trembecka-Dubel, Elżbieta;
    • Dąbrowska-Leonik, Nel;
    • Walaszczyk, Małgorzata;
    • Matysiak, Natalia;
    • Morawiec-Knysak, Aurelia;
    • Szczepański, Tomasz;
    • Szczepańska, Maria
    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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    TREC/KREC Newborn Screening followed by Next-Generation Sequencing for Severe Combined Immunodeficiency in Japan.

    Published in:
    Journal of Clinical Immunology, 2022, v. 42, n. 8, p. 1696, doi. 10.1007/s10875-022-01335-0
    By:
    • Wakamatsu, Manabu;
    • Kojima, Daiei;
    • Muramatsu, Hideki;
    • Okuno, Yusuke;
    • Kataoka, Shinsuke;
    • Nakamura, Fumiko;
    • Sakai, Yoshimi;
    • Tsuge, Ikuya;
    • Ito, Tsuyoshi;
    • Ueda, Kazuto;
    • Saito, Akiko;
    • Morihana, Eiji;
    • Ito, Yasuhiko;
    • Ohashi, Naoki;
    • Tanaka, Makito;
    • Tanaka, Taihei;
    • Kojima, Seiji;
    • Nakajima, Yoko;
    • Ito, Tetsuya;
    • Takahashi, Yoshiyuki
    Publication type:
    Article
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    Clinical and Laboratory Factors Affecting the Prognosis of Severe Combined Immunodeficiency.

    Published in:
    Journal of Clinical Immunology, 2022, v. 42, n. 5, p. 1036, doi. 10.1007/s10875-022-01262-0
    By:
    • Ozturk, Elif;
    • Catak, Mehmet Cihangir;
    • Kiykim, Ayca;
    • Baser, Dilek;
    • Bilgic Eltan, Sevgi;
    • Yalcin, Koray;
    • Kasap, Nurhan;
    • Nain, Ercan;
    • Bulutoglu, Alper;
    • Akgun, Gamze;
    • Can, Yasemin;
    • Sefer, Asena Pinar;
    • Babayeva, Royala;
    • Caki-Kilic, Suar;
    • Tezcan Karasu, Gulsun;
    • Yesilipek, Akif;
    • Ozen, Ahmet;
    • Karakoc-Aydiner, Elif;
    • Baris, Safa
    Publication type:
    Article
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    Hematopoietic Cell Transplantation for Severe Combined Immunodeficiency Patients: a Japanese Retrospective Study.

    Published in:
    Journal of Clinical Immunology, 2021, v. 41, n. 8, p. 1865, doi. 10.1007/s10875-021-01112-5
    By:
    • Miyamoto, Satoshi;
    • Umeda, Katsutsugu;
    • Kurata, Mio;
    • Nishimura, Akira;
    • Yanagimachi, Masakatsu;
    • Ishimura, Masataka;
    • Sato, Maho;
    • Shigemura, Tomonari;
    • Kato, Motohiro;
    • Sasahara, Yoji;
    • Iguchi, Akihiro;
    • Koike, Takashi;
    • Takahashi, Yoshiyuki;
    • Kajiwara, Michiko;
    • Inoue, Masami;
    • Hashii, Yoshiko;
    • Yabe, Hiromasa;
    • Kato, Koji;
    • Atsuta, Yoshiko;
    • Imai, Kohsuke
    Publication type:
    Article
    41

    Single-Center Study of 72 Patients with Severe Combined Immunodeficiency: Clinical and Laboratory Features and Outcomes.

    Published in:
    Journal of Clinical Immunology, 2021, v. 41, n. 7, p. 1563, doi. 10.1007/s10875-021-01062-y
    By:
    • Bayram, Ozlem;
    • Haskologlu, Sule;
    • Bayrakoğlu, Deniz;
    • Bal, Sevgi Kostel;
    • Islamoglu, Candan;
    • Cipe, Funda Erol;
    • Kendirli, Tanil;
    • Kursun, Nazmiye;
    • Guner, Sukru Nail;
    • Yildiran, Alisan;
    • Bozdogan, Gunseli;
    • Yuksek, Mutlu;
    • Reisli, Ismail;
    • Dalva, Klara;
    • Aytekin, Caner;
    • Boztug, Kaan;
    • Dogu, Figen;
    • Ikinciogullari, Aydan
    Publication type:
    Article
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    Graft Versus Host Disease Following HLA-Matched Sibling Donor Compared with Matched Related Donor for Hematopoietic Stem Cell Transplantation for the Treatment of Severe Combined Immunodeficiency Disease.

    Published in:
    Journal of Clinical Immunology, 2019, v. 39, n. 4, p. 414, doi. 10.1007/s10875-019-00634-3
    By:
    • Al-Saud, Bandar;
    • Al-Saleem, Alhanouf;
    • Al Rasheed, Bashayer;
    • Al-Ghonaium, Abdulaziz;
    • Al-Ahmari, Ali;
    • Al-Mousa, Hamoud;
    • Al-Seraihy, Amal;
    • Arnaout, Rand;
    • Al-Jefri, Abdullah;
    • Elshorbagi, Sahar;
    • Elsayed, Nazeema;
    • Al-Dhekri, Hasan;
    • Ayas, Mouhab;
    • Al-Muhsen, Saleh
    Publication type:
    Article
    47

    Newborn Screening for Severe Combined Immunodeficiency: Analytic and Clinical Performance of the T Cell Receptor Excision Circle Assay in France (DEPISTREC Study).

    Published in:
    Journal of Clinical Immunology, 2018, v. 38, n. 7, p. 778, doi. 10.1007/s10875-018-0550-7
    By:
    • Audrain, Marie A. P.;
    • Léger, Alexandra J. C.;
    • Hémont, Caroline A. F.;
    • Mirallié, Sophie M.;
    • Cheillan, David;
    • Rimbert, Marie G. M.;
    • Le Thuaut, Aurélie M-P.;
    • Sébille-Rivain, Véronique A.;
    • Prat, Aurore;
    • Pinel, Enora M. Q.;
    • Divry, Eléonore;
    • Dert, Cécile G. L.;
    • Fournier, Maxime A. G.;
    • Thomas, Caroline J. C.
    Publication type:
    Article
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    T<sup>+</sup> NK<sup>+</sup> IL-2 Receptor γ Chain Mutation: a Challenging Diagnosis of Atypical Severe Combined Immunodeficiency.

    Published in:
    Journal of Clinical Immunology, 2018, v. 38, n. 4, p. 527, doi. 10.1007/s10875-018-0514-y
    By:
    • Stepensky, Polina;
    • Keller, Baerbel;
    • Shamriz, Oded;
    • von Spee-Mayer, Caroline;
    • Friedmann, David;
    • Shadur, Bella;
    • Unger, Susanne;
    • Fuchs, Sebastian;
    • NaserEddin, Adeeb;
    • Rumman, Nisreen;
    • Amro, Sara;
    • Molho Pessach, Vered;
    • Abuzaitoun, Omar;
    • Somech, Raz;
    • Elpeleg, Orly;
    • Ehl, Stephan;
    • Warnatz, Klaus
    Publication type:
    Article
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    The Natural History of Children with Severe Combined Immunodeficiency: Baseline Features of the First Fifty Patients of the Primary Immune Deficiency Treatment Consortium Prospective Study 6901.

    Published in:
    Journal of Clinical Immunology, 2013, v. 33, n. 7, p. 1156, doi. 10.1007/s10875-013-9917-y
    By:
    • Dvorak, Christopher;
    • Cowan, Morton;
    • Logan, Brent;
    • Notarangelo, Luigi;
    • Griffith, Linda;
    • Puck, Jennifer;
    • Kohn, Donald;
    • Shearer, William;
    • O'Reilly, Richard;
    • Fleisher, Thomas;
    • Pai, Sung-Yun;
    • Hanson, I.;
    • Pulsipher, Michael;
    • Fuleihan, Ramsay;
    • Filipovich, Alexandra;
    • Goldman, Frederick;
    • Kapoor, Neena;
    • Small, Trudy;
    • Smith, Angela;
    • Chan, Ka-Wah
    Publication type:
    Article
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