Works matching IS 02719142 AND DT 2020 AND VI 40 AND IP 6

Results: 17
    1
    2

    Deficiency of Adenosine Deaminase 2 (DADA2): Hidden Variants, Reduced Penetrance, and Unusual Inheritance.

    Published in:
    Journal of Clinical Immunology, 2020, v. 40, n. 6, p. 917, doi. 10.1007/s10875-020-00817-3
    By:
    • Schnappauf, Oskar;
    • Zhou, Qing;
    • Moura, Natalia Sampaio;
    • Ombrello, Amanda K.;
    • Michael, Drew G.;
    • Deuitch, Natalie;
    • Barron, Karyl;
    • Stone, Deborah L.;
    • Hoffmann, Patrycja;
    • Hershfield, Michael;
    • Applegate, Carolyn;
    • Bjornsson, Hans T.;
    • Beck, David B.;
    • Witmer, P. Dane;
    • Sobreira, Nara;
    • Wohler, Elizabeth;
    • Chiorini, John A.;
    • Center, The American Genome;
    • Dalgard, Clifton L.;
    • Center, NIH Intramural Sequencing
    Publication type:
    Article
    3

    Lymphoma Predisposing Gene in an Extended Family: CD70 Signaling Defect.

    Published in:
    Journal of Clinical Immunology, 2020, v. 40, n. 6, p. 883, doi. 10.1007/s10875-020-00816-4
    By:
    • Khodzhaev, Khusan;
    • Bay, Sema Buyukkapu;
    • Kebudi, Rejin;
    • Altindirek, Didem;
    • Kaya, Aysenur;
    • Erbilgin, Yucel;
    • Ng, Ozden Hatirnaz;
    • Kiykim, Ayca;
    • Erol, Funda Cipe;
    • Zengin, Feride Sen;
    • Firtina, Sinem;
    • Ng, Yuk Yin;
    • Aksoy, Basak Adakli;
    • Sayitoglu, Muge
    Publication type:
    Article
    4
    5

    Neuroinflammatory Disease as an Isolated Manifestation of Hemophagocytic Lymphohistiocytosis.

    Published in:
    Journal of Clinical Immunology, 2020, v. 40, n. 6, p. 901, doi. 10.1007/s10875-020-00814-6
    By:
    • Blincoe, Annaliesse;
    • Heeg, Maximilian;
    • Campbell, Patrick K.;
    • Hines, Melissa;
    • Khojah, Amer;
    • Klein-Gitelman, Marisa;
    • Talano, Julie-An;
    • Speckmann, Carsten;
    • Touzot, Fabien;
    • Lankester, Arjan;
    • Legger, Geertje E.;
    • Rivière, Jacques G.;
    • Garcia-Prat, Marina;
    • Alonso, Laura;
    • Putti, Maria C.;
    • Lehmberg, Kai;
    • Maier, Sarah;
    • El Chazli, Yasmine;
    • Elmaksoud, Marwa Abd;
    • Astigarraga, Itziar
    Publication type:
    Article
    6

    Mendelian Susceptibility to Mycobacterial Disease (MSMD): Clinical and Genetic Features of 32 Iranian Patients.

    Published in:
    Journal of Clinical Immunology, 2020, v. 40, n. 6, p. 872, doi. 10.1007/s10875-020-00813-7
    By:
    • Mahdaviani, Seyed Alireza;
    • Mansouri, Davood;
    • Jamee, Mahnaz;
    • Zaki-Dizaji, Majid;
    • Aghdam, Karim Rahimi;
    • Mortaz, Esmail;
    • Khorasanizadeh, MirHojjat;
    • Eskian, Mahsa;
    • Movahedi, Mahshid;
    • Ghaffaripour, Hosseinali;
    • Baghaie, Nooshin;
    • Hassanzad, Maryam;
    • Chavoshzadeh, Zahra;
    • Mansouri, Mahboubeh;
    • Mesdaghi, Mehrnaz;
    • Ghaini, Mehdi;
    • Noori, Farzad;
    • Eskandarzadeh, Shabnam;
    • Kahkooi, Shahram;
    • Poorabdolah, Mihan
    Publication type:
    Article
    7
    8

    Treosulfan-Based Conditioning Regimen in Haematopoietic Stem Cell Transplantation with TCRαβ/CD19 Depletion in Nijmegen Breakage Syndrome.

    Published in:
    Journal of Clinical Immunology, 2020, v. 40, n. 6, p. 861, doi. 10.1007/s10875-020-00811-9
    By:
    • Laberko, Alexandra;
    • Sultanova, Elvira;
    • Gutovskaya, Elena;
    • Radygina, Svetlana;
    • Deripapa, Elena;
    • Kantulaeva, Aishat;
    • Trakhtman, Pavel;
    • Brilliantova, Varvara;
    • Starichkova, Julia;
    • Shcherbina, Anna;
    • Maschan, Michael;
    • Maschan, Alexei;
    • Balashov, Dmitry
    Publication type:
    Article
    9
    10

    Prevalence of Immunological Defects in a Cohort of 97 Rubinstein–Taybi Syndrome Patients.

    Published in:
    Journal of Clinical Immunology, 2020, v. 40, n. 6, p. 851, doi. 10.1007/s10875-020-00808-4
    By:
    • Saettini, Francesco;
    • Herriot, Richard;
    • Prada, Elisabetta;
    • Nizon, Mathilde;
    • Zama, Daniele;
    • Marzollo, Antonio;
    • Romaniouk, Igor;
    • Lougaris, Vassilios;
    • Cortesi, Manuela;
    • Morreale, Alessia;
    • Kosaki, Rika;
    • Cardinale, Fabio;
    • Ricci, Silvia;
    • Domínguez-Garrido, Elena;
    • Montin, Davide;
    • Vincent, Marie;
    • Milani, Donatella;
    • Biondi, Andrea;
    • Gervasini, Cristina;
    • Badolato, Raffaele
    Publication type:
    Article
    11
    12

    Three Copies of Four Interferon Receptor Genes Underlie a Mild Type I Interferonopathy in Down Syndrome.

    Published in:
    Journal of Clinical Immunology, 2020, v. 40, n. 6, p. 807, doi. 10.1007/s10875-020-00803-9
    By:
    • Kong, Xiao-Fei;
    • Worley, Lisa;
    • Rinchai, Darawan;
    • Bondet, Vincent;
    • Jithesh, Puthen Veettil;
    • Goulet, Marie;
    • Nonnotte, Emilie;
    • Rebillat, Anne Sophie;
    • Conte, Martine;
    • Mircher, Clotilde;
    • Gürtler, Nicolas;
    • Liu, Luyan;
    • Migaud, Mélanie;
    • Elanbari, Mohammed;
    • Habib, Tanwir;
    • Ma, Cindy S.;
    • Bustamante, Jacinta;
    • Abel, Laurent;
    • Ravel, Aimé;
    • Lyonnet, Stanislas
    Publication type:
    Article
    13
    14
    15

    Clinical Phenotypes and Immunological Characteristics of 18 Egyptian LRBA Deficiency Patients.

    Published in:
    Journal of Clinical Immunology, 2020, v. 40, n. 6, p. 820, doi. 10.1007/s10875-020-00799-2
    By:
    • Meshaal, Safa;
    • El Hawary, Rabab;
    • Adel, Rana;
    • Abd Elaziz, Dalia;
    • Erfan, Aya;
    • Lotfy, Sohilla;
    • Hafez, Mona;
    • Hassan, Mona;
    • Johnson, Matthew;
    • Rojas-Restrepo, Jessica;
    • Gamez-Diaz, Laura;
    • Grimbacher, Bodo;
    • Shoman, Walaa;
    • Abdelmeguid, Yasmine;
    • Boutros, Jeannette;
    • Galal, Nermeen;
    • El-Guindy, Nancy;
    • Elmarsafy, Aisha
    Publication type:
    Article
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