Works matching IS 02719142 AND DT 2022 AND VI 42 AND IP 5

Results: 20
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    Copy Number Analysis in a Large Cohort Suggestive of Inborn Errors of Immunity Indicates a Wide Spectrum of Relevant Chromosomal Losses and Gains.

    Published in:
    Journal of Clinical Immunology, 2022, v. 42, n. 5, p. 1083, doi. 10.1007/s10875-022-01276-8
    By:
    • Wan, Rensheng;
    • Schieck, Maximilian;
    • Caballero-Oteyza, Andrés;
    • Hofmann, Winfried;
    • Cochino, Alexis Virgil;
    • Shcherbina, Anna;
    • Sherkat, Roya;
    • Wache-Mainier, Clarisse;
    • Fernandez, Anita;
    • Sultan, Marc;
    • Illig, Thomas;
    • Grimbacher, Bodo;
    • Proietti, Michele;
    • Steinemann, Doris
    Publication type:
    Article
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    The Impact of SARS-CoV-2 Infection in Patients with Inborn Errors of Immunity: the Experience of the Italian Primary Immunodeficiencies Network (IPINet).

    Published in:
    Journal of Clinical Immunology, 2022, v. 42, n. 5, p. 935, doi. 10.1007/s10875-022-01264-y
    By:
    • Giardino, Giuliana;
    • Milito, Cinzia;
    • Lougaris, Vassilios;
    • Punziano, Alessandra;
    • Carrabba, Maria;
    • Cinetto, Francesco;
    • Scarpa, Riccardo;
    • Dellepiane, Rosa Maria;
    • Ricci, Silvia;
    • Rivalta, Beatrice;
    • Conti, Francesca;
    • Marzollo, Antonio;
    • Firinu, Davide;
    • Cirillo, Emilia;
    • Lagnese, Gianluca;
    • Cancrini, Caterina;
    • Martire, Baldassare;
    • Danieli, Maria Giovanna;
    • Pession, Andrea;
    • Vacca, Angelo
    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
    11

    Granulocyte Transfusions in Patients with Chronic Granulomatous Disease Undergoing Hematopoietic Cell Transplantation or Gene Therapy.

    Published in:
    Journal of Clinical Immunology, 2022, v. 42, n. 5, p. 1026, doi. 10.1007/s10875-022-01261-1
    By:
    • Arnold, Danielle E.;
    • Chellapandian, Deepak;
    • Parikh, Suhag;
    • Mallhi, Kanwaldeep;
    • Marsh, Rebecca A.;
    • Heimall, Jennifer R.;
    • Grossman, Debra;
    • Chitty-Lopez, Maria;
    • Murguia-Favela, Luis;
    • Gennery, Andrew R.;
    • Boulad, Farid;
    • Arbuckle, Erin;
    • Cowan, Morton J.;
    • Dvorak, Christopher C.;
    • Griffith, Linda M.;
    • Haddad, Elie;
    • Kohn, Donald B.;
    • Notarangelo, Luigi D.;
    • Pai, Sung-Yun;
    • Puck, Jennifer M.
    Publication type:
    Article
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    A High-Throughput Amplicon Screen for Somatic UBA1 Variants in Cytopenic and Giant Cell Arteritis Cohorts.

    Published in:
    Journal of Clinical Immunology, 2022, v. 42, n. 5, p. 947, doi. 10.1007/s10875-022-01258-w
    By:
    • Poulter, James;
    • UKGCA/VEXAS Consortium;
    • Gough, Andrew;
    • Isaacs, John D.;
    • Green, Michael;
    • McHugh, Neil;
    • Hordon, Lesley;
    • Kamath, Sanjeet;
    • Nisar, Mohammed;
    • Patel, Yusuf;
    • Yee, Cee-Seng;
    • Stevens, Robert;
    • Nandi, Pradip;
    • Nandagudi, Anupama;
    • Jarrett, Stephen;
    • Li, Charles;
    • Levy, Sarah;
    • Mollan, Susan;
    • Salih, Abdel;
    • Makie, Sarah
    Publication type:
    Article
    14

    Impact of JAK Inhibitors in Pediatric Patients with STAT1 Gain of Function (GOF) Mutations—10 Children and Review of the Literature.

    Published in:
    Journal of Clinical Immunology, 2022, v. 42, n. 5, p. 1071, doi. 10.1007/s10875-022-01257-x
    By:
    • Deyà-Martínez, Angela;
    • Rivière, Jaques G.;
    • Roxo-Junior, Pérsio;
    • Ramakers, Jan;
    • Bloomfield, Markéta;
    • Guisado Hernandez, Paloma;
    • Blanco Lobo, Pilar;
    • Abu Jamra, Soraya Regina;
    • Esteve-Sole, Ana;
    • Kanderova, Veronika;
    • García-García, Ana;
    • Lopez-Corbeto, Mireia;
    • Martinez Pomar, Natalia;
    • Martín-Nalda, Andrea;
    • Alsina, Laia;
    • Neth, Olaf;
    • Olbrich, Peter
    Publication type:
    Article
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    Pulmonary Alveolar Proteinosis and Multiple Infectious Diseases in a Child with Autosomal Recessive Complete IRF8 Deficiency.

    Published in:
    Journal of Clinical Immunology, 2022, v. 42, n. 5, p. 975, doi. 10.1007/s10875-022-01250-4
    By:
    • Rosain, Jérémie;
    • Bernasconi, Andrea;
    • Prieto, Emma;
    • Caputi, Lucia;
    • Le Voyer, Tom;
    • Buda, Guadalupe;
    • Marti, Marcelo;
    • Bohlen, Jonathan;
    • Neehus, Anna-Lena;
    • Castaños, Claudio;
    • Gallagher, Rosario;
    • Dorgham, Karim;
    • Oleastro, Matias;
    • Perez, Laura;
    • Danielian, Silvia;
    • Dipierri, Jose Edgardo;
    • Casanova, Jean-Laurent;
    • Bustamante, Jacinta;
    • Villa, Mariana
    Publication type:
    Article
    18

    SARS-CoV-2 Vaccine Responses in Individuals with Antibody Deficiency: Findings from the COV-AD Study.

    Published in:
    Journal of Clinical Immunology, 2022, v. 42, n. 5, p. 923, doi. 10.1007/s10875-022-01231-7
    By:
    • Shields, Adrian M.;
    • Faustini, Sian E.;
    • Hill, Harriet J.;
    • Al-Taei, Saly;
    • Tanner, Chloe;
    • Ashford, Fiona;
    • Workman, Sarita;
    • Moreira, Fernando;
    • Verma, Nisha;
    • Wagg, Hollie;
    • Heritage, Gail;
    • Campton, Naomi;
    • Stamataki, Zania;
    • Klenerman, Paul;
    • Thaventhiran, James E. D.;
    • Goddard, Sarah;
    • Johnston, Sarah;
    • Huissoon, Aarnoud;
    • Bethune, Claire;
    • Elcombe, Suzanne
    Publication type:
    Article
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    Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Aicardi-Goutières Syndrome with Severe End-Organ Involvement.

    Published in:
    Journal of Clinical Immunology, 2022, v. 42, n. 5, p. 962, doi. 10.1007/s10875-022-01209-5
    By:
    • Naesens, Leslie;
    • Nemegeer, Josephine;
    • Roelens, Filip;
    • Vallaeys, Lore;
    • Meuwissen, Marije;
    • Janssens, Katrien;
    • Verloo, Patrick;
    • Ogunjimi, Benson;
    • Hemelsoet, Dimitri;
    • Program for Undiagnosed Rare Diseases (UD-PrOZA);
    • Callens, Steven;
    • Dermaut, Bart;
    • Terryn, Wim;
    • Schuermans, Nika;
    • Poppe, Bruce;
    • Hoste, Levi;
    • Roels, Lisa;
    • De Bruyne, Marieke;
    • De Baere, Elfride;
    • Van Dorpe, Jo
    Publication type:
    Article