Works matching Severe combined immunodeficiency syndrome (SCID)

Results: 38
    1
    2

    NUDCD3 deficiency disrupts V(D)J recombination to cause SCID and Omenn syndrome.

    Published in:
    Science Immunology, 2024, v. 9, n. 95, p. 1, doi. 10.1126/sciimmunol.ade5705
    By:
    • Chen, Rui;
    • Lukianova, Elena;
    • van der Loeff, Ina Schim;
    • Spegarova, Jarmila Stremenova;
    • Willet, Joseph D.P.;
    • James, Kieran D.;
    • Ryder, Edward J.;
    • Griffin, Helen;
    • IJspeert, Hanna;
    • Gajbhiye, Akshada;
    • Lamoliatte, Frederic;
    • Marin-Rubio, Jose L.;
    • Woodbine, Lisa;
    • Lemos, Henrique;
    • Swan, David J.;
    • Pintar, Valeria;
    • Sayes, Kamal;
    • Ruiz-Morales, Elias R.;
    • Eastham, Simon;
    • Dixon, David
    Publication type:
    Article
    3
    4
    5
    6
    7
    8
    9
    10
    11
    12
    13
    14

    RAG1 Deficiency May Present Clinically as Selective IgA Deficiency.

    Published in:
    Journal of Clinical Immunology, 2015, v. 35, n. 3, p. 280, doi. 10.1007/s10875-015-0146-4
    By:
    • Kato, Tamaki;
    • Crestani, Elena;
    • Kamae, Chikako;
    • Honma, Kenichi;
    • Yokosuka, Tomoko;
    • Ikegawa, Takeshi;
    • Nishida, Naonori;
    • Kanegane, Hirokazu;
    • Wada, Taizo;
    • Yachie, Akihiro;
    • Ohara, Osamu;
    • Morio, Tomohiro;
    • Notarangelo, Luigi;
    • Imai, Kohsuke;
    • Nonoyama, Shigeaki
    Publication type:
    Article
    15
    16
    17
    18
    19
    20

    The Clinical and Genetic Spectrum of 82 Patients With RAG Deficiency Including a c.256_257delAA Founder Variant in Slavic Countries.

    Published in:
    Frontiers in Immunology, 2020, v. 11, p. 1, doi. 10.3389/fimmu.2020.00900
    By:
    • Sharapova, Svetlana O.;
    • Skomska-Pawliszak, Małgorzata;
    • Rodina, Yulia A.;
    • Wolska-Kuśnierz, Beata;
    • Dabrowska-Leonik, Nel;
    • Mikołuć, Bozena;
    • Pashchenko, Olga E.;
    • Pasic, Srdjan;
    • Freiberger, Tomáš;
    • Milota, Tomáš;
    • Formánková, Renata;
    • Szaflarska, Anna;
    • Siedlar, Maciej;
    • Avčin, Tadej;
    • Markelj, Gašper;
    • Ciznar, Peter;
    • Kalwak, Krzysztof;
    • Kołtan, Sylwia;
    • Jackowska, Teresa;
    • Drabko, Katarzyna
    Publication type:
    Article
    21

    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
    22
    23
    24
    25
    26

    Inborn Errors of Immunity in Algerian Children and Adults: A Single-Center Experience Over a Period of 13 Years (2008–2021).

    Published in:
    Frontiers in Immunology, 2022, v. 13, p. 1, doi. 10.3389/fimmu.2022.900091
    By:
    • Belaid, Brahim;
    • Lamara Mahammed, Lydia;
    • Drali, Ouardia;
    • Oussaid, Aida Mohand;
    • Touri, Nabila Souad;
    • Melzi, Souhila;
    • Dehimi, Abdelhak;
    • Berkani, Lylia Meriem;
    • Merah, Fatma;
    • Larab, Zineb;
    • Allam, Ines;
    • Khemici, Ouarda;
    • Kirane, Sonya Yasmine;
    • Boutaba, Mounia;
    • Belbouab, Reda;
    • Bekkakcha, Hadjira;
    • Guedouar, Assia;
    • Chelali, Abdelhakim;
    • Baamara, Brahim;
    • Noui, Djamila
    Publication type:
    Article
    27
    28
    29
    30
    31
    32
    33

    Prenatal diagnosis of RAG-deficient Omenn syndrome.

    Published in:
    2000
    By:
    • Villa, Anna;
    • Bozzi, Fabio;
    • Sobacchi, Cristina;
    • Strina, Dario;
    • Fasth, Andres;
    • Pasic, Srdjan;
    • Notarangelo, Luigi D.;
    • Vezzoni, Paolo;
    • Villa, A;
    • Bozzi, F;
    • Sobacchi, C;
    • Strina, D;
    • Fasth, A;
    • Pasic, S;
    • Notarangelo, L D;
    • Vezzoni, P
    Publication type:
    journal article
    34

    Long-Term Clinical and Molecular Follow-up of Large Animals Receiving Retrovirally Transduced Stem and Progenitor Cells: No Progression to Clonal Hematopoiesis or Leukemia

    Published in:
    Molecular Therapy, 2004, v. 9, n. 3, p. 389, doi. 10.1016/j.ymthe.2003.12.006
    By:
    • Kiem, Hans-Peter;
    • Sellers, Stephanie;
    • Thomasson, Bobbie;
    • Morris, Julia C.;
    • Tisdale, John F.;
    • Horn, Peter A.;
    • Hematti, Peiman;
    • Adler, Rima;
    • Kuramoto, Ken;
    • Calmels, Boris;
    • Bonifacino, Aylin;
    • Hu, Jiong;
    • von Kalle, Christof;
    • Schmidt, Manfred;
    • Sorrentino, Brian;
    • Nienhuis, Arthur;
    • Blau, C. Anthony;
    • Andrews, Robert G.;
    • Donahue, Robert E.;
    • Dunbar, Cynthia E.
    Publication type:
    Article
    35
    36
    37
    38