Works matching IS 02719142 AND DT 2020 AND VI 40

Results: 159
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    Correction to: A Nonsense N –Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency.

    Published in:
    2020
    By:
    • Kuehn, Hye Sun;
    • Bernasconi, Andrea;
    • Niemela, Julie E.;
    • Almejun, Maria Belen;
    • Gallego, William Alexander Franco;
    • Goel, Shubham;
    • Stoddard, Jennifer L.;
    • Sánchez, Ronald Guillermo Peláez;
    • Franco, Carlos Andrés Arango;
    • Oleastro, Matías;
    • Grunebaum, Eyal;
    • Ballas, Zuhair;
    • Cunningham-Rundles, Charlotte;
    • Fleisher, Thomas A.;
    • Franco, José Luis;
    • Danielian, Silvia;
    • Rosenzweig, Sergio D.
    Publication type:
    Correction Notice
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    Hematopoietic Stem Cell Transplantation in Children with Inborn Errors of Immunity: a Multi-center Experience in Colombia.

    Published in:
    Journal of Clinical Immunology, 2020, v. 40, n. 8, p. 1116, doi. 10.1007/s10875-020-00856-w
    By:
    • Olaya, Manuela;
    • Franco, Alexis;
    • Chaparro, Mauricio;
    • Estupiñan, Marcela;
    • Aristizabal, David;
    • Builes-Restrepo, Natalia;
    • Franco, José L;
    • Zea-Vera, Andrés F;
    • Estacio, Mayra;
    • Manzi, Eliana;
    • Beltran, Estefania;
    • Perez, Paola;
    • Patiño, Jaime;
    • Pachajoa, Harry;
    • Medina-Valencia, Diego
    Publication type:
    Article
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    A Nonsense N –Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency.

    Published in:
    Journal of Clinical Immunology, 2020, v. 40, n. 8, p. 1093, doi. 10.1007/s10875-020-00842-2
    By:
    • Kuehn, Hye Sun;
    • Bernasconi, Andrea;
    • Niemela, Julie E.;
    • Almejun, Maria Belen;
    • Gallego, William Alexander Franco;
    • Goel, Shubham;
    • Stoddard, Jennifer L.;
    • Sánchez, Ronald Guillermo Peláez;
    • Franco, Carlos Andrés Arango;
    • Oleastro, Matías;
    • Grunebaum, Eyal;
    • Ballas, Zuhair;
    • Cunningham-Rundles, Charlotte;
    • Fleisher, Thomas A.;
    • Franco, José Luis;
    • Danielian, Silvia;
    • Rosenzweig, Sergio D.
    Publication type:
    Article
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    Correction: Chronic Granulomatous Disease-Associated IBD Resolves and Does Not Adversely Impact Survival Following Allogeneic HCT.

    Published in:
    2020
    By:
    • Marsh, Rebecca A.;
    • Leiding, Jennifer W.;
    • Logan, Brent R.;
    • Griffith, Linda M.;
    • Arnold, Danielle E.;
    • Haddad, Elie;
    • Falcone, E. Liana;
    • Yin, Ziyan;
    • Patel, Kadam;
    • Arbuckle, Erin;
    • Bleesing, Jack J.;
    • Sullivan, Kathleen E.;
    • Heimall, Jennifer;
    • Burroughs, Lauri M.;
    • Skoda-Smith, Suzanne;
    • Chandrakasan, Shanmuganathan;
    • Yu, Lolie C.;
    • Oshrine, Benjamin R.;
    • Cuvelier, Geoffrey D. E.;
    • Thakar, Monica S.
    Publication type:
    Correction Notice
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    Immune Alterations in a Patient with SARS-CoV-2-Related Acute Respiratory Distress Syndrome.

    Published in:
    Journal of Clinical Immunology, 2020, v. 40, n. 8, p. 1082, doi. 10.1007/s10875-020-00839-x
    By:
    • Bouadma, Lila;
    • Wiedemann, Aurélie;
    • Patrier, Juliette;
    • Surénaud, Mathieu;
    • Wicky, Paul-Henri;
    • Foucat, Emile;
    • Diehl, Jean-Luc;
    • Hejblum, Boris P.;
    • Sinnah, Fabrice;
    • de Montmollin, Etienne;
    • Lacabaratz, Christine;
    • Thiébaut, Rodolphe;
    • Timsit, J. F.;
    • Lévy, Yves
    Publication type:
    Article
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    Heterozygous TLR3 Mutation in Patients with Hantavirus Encephalitis.

    Published in:
    Journal of Clinical Immunology, 2020, v. 40, n. 8, p. 1156, doi. 10.1007/s10875-020-00834-2
    By:
    • Partanen, Terhi;
    • Chen, Jie;
    • Lehtonen, Johanna;
    • Kuismin, Outi;
    • Rusanen, Harri;
    • Vapalahti, Olli;
    • Vaheri, Antti;
    • Anttila, Veli-Jukka;
    • Bode, Michaela;
    • Hautala, Nina;
    • Vuorinen, Tytti;
    • Glumoff, Virpi;
    • Kraatari, Minna;
    • Åström, Pirjo;
    • Saarela, Janna;
    • Kauma, Heikki;
    • Lorenzo, Lazaro;
    • Casanova, Jean-Laurent;
    • Zhang, Shen-Ying;
    • Seppänen, Mikko
    Publication type:
    Article
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    The Italian Registry for Primary Immunodeficiencies (Italian Primary Immunodeficiency Network; IPINet): Twenty Years of Experience (1999–2019).

    Published in:
    Journal of Clinical Immunology, 2020, v. 40, n. 7, p. 1026, doi. 10.1007/s10875-020-00844-0
    By:
    • Lougaris, Vassilios;
    • Pession, Andrea;
    • Baronio, Manuela;
    • Soresina, Annarosa;
    • Rondelli, Roberto;
    • Gazzurelli, Luisa;
    • Benvenuto, Alessio;
    • Martino, Silvana;
    • Gattorno, Marco;
    • Biondi, Andrea;
    • Zecca, Marco;
    • Marinoni, Maddalena;
    • Fabio, Giovanna;
    • Aiuti, Alessandro;
    • Marseglia, Gianluigi;
    • Putti, Maria Caterina;
    • Agostini, Carlo;
    • Lunardi, Claudio;
    • Tommasini, Alberto;
    • Bertolini, Patrizia
    Publication type:
    Article
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    An RTEL1 Mutation Links to Infantile-Onset Ulcerative Colitis and Severe Immunodeficiency.

    Published in:
    Journal of Clinical Immunology, 2020, v. 40, n. 7, p. 1010, doi. 10.1007/s10875-020-00829-z
    By:
    • Ziv, Alma;
    • Werner, Lael;
    • Konnikova, Liza;
    • Awad, Aya;
    • Jeske, Tim;
    • Hastreiter, Maximilian;
    • Mitsialis, Vanessa;
    • Stauber, Tali;
    • Wall, Sarah;
    • Kotlarz, Daniel;
    • Klein, Christoph;
    • Snapper, Scott B;
    • Tzfati, Yehuda;
    • Weiss, Batia;
    • Somech, Raz;
    • Shouval, Dror S.
    Publication type:
    Article
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    Progressive B Cell Loss in Revertant X-SCID.

    Published in:
    Journal of Clinical Immunology, 2020, v. 40, n. 7, p. 1001, doi. 10.1007/s10875-020-00825-3
    By:
    • Lin, Connie H.;
    • Kuehn, Hye Sun;
    • Thauland, Timothy J.;
    • Lee, Christine M.;
    • De Ravin, Suk See;
    • Malech, Harry L.;
    • Keyes, Timothy J.;
    • Jager, Astraea;
    • Davis, Kara L.;
    • Garcia-Lloret, Maria I.;
    • Rosenzweig, Sergio D.;
    • Butte, Manish J.
    Publication type:
    Article
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    Novel NCF2 Mutation Causing Chronic Granulomatous Disease.

    Published in:
    Journal of Clinical Immunology, 2020, v. 40, n. 7, p. 977, doi. 10.1007/s10875-020-00820-8
    By:
    • Roth, Idit Lachover;
    • Salamon, Pazit;
    • Freund, Tal;
    • Gadot, Yael Ben-David;
    • Baron, Szilvia;
    • Hershkovitz, Tova;
    • Shefler, Irit;
    • Hanna, Suhair;
    • Confino-Cohen, Ronit;
    • Bentur, Lea;
    • Hagin, David
    Publication type:
    Article
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    Severe Autoinflammatory Manifestations and Antibody Deficiency Due to Novel Hypermorphic PLCG2 Mutations.

    Published in:
    Journal of Clinical Immunology, 2020, v. 40, n. 7, p. 987, doi. 10.1007/s10875-020-00794-7
    By:
    • Martín-Nalda, Andrea;
    • Fortuny, Claudia;
    • Rey, Lourdes;
    • Bunney, Tom D.;
    • Alsina, Laia;
    • Esteve-Solé, Ana;
    • Bull, Daniel;
    • Anton, Maria Carmen;
    • Basagaña, María;
    • Casals, Ferran;
    • Deyá, Angela;
    • García-Prat, Marina;
    • Gimeno, Ramon;
    • Juan, Manel;
    • Martinez-Banaclocha, Helios;
    • Martinez-Garcia, Juan J;
    • Mensa-Vilaró, Anna;
    • Rabionet, Raquel;
    • Martin-Begue, Nieves;
    • Rudilla, Francesc
    Publication type:
    Article
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    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
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    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
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    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
    50

    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