Works matching IS 02719142 AND DT 2024 AND VI 44 AND IP 7


Results: 22
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    Severe Combined Immunodeficiency from a Homozygous DNA Ligase 1 Mutant with Reduced Catalytic Activity but Increased Ligation Fidelity.

    Published in:
    Journal of Clinical Immunology, 2024, v. 44, n. 7, p. 1, doi. 10.1007/s10875-024-01754-1
    By:
    • Alajlan, Huda;
    • Raducanu, Vlad-Stefan;
    • Lopez de los Santos, Yossef;
    • Tehseen, Muhammad;
    • Alruwaili, Hibah;
    • Al-Mazrou, Amer;
    • Mohammad, Reem;
    • Al-Alwan, Monther;
    • De Biasio, Alfredo;
    • Merzaban, Jasmeen S.;
    • Al-Mousa, Hamoud;
    • Hamdan, Samir M.;
    • Alazami, Anas M.
    Publication type:
    Article
    3

    18q Deletion Syndrome Presenting with Late-Onset Combined Immunodeficiency.

    Published in:
    Journal of Clinical Immunology, 2024, v. 44, n. 7, p. 1, doi. 10.1007/s10875-024-01751-4
    By:
    • Hashiguchi, Sho;
    • Tomomasa, Dan;
    • Nishikawa, Takuro;
    • Ishikawa, Shuji;
    • Akaike, Harumi;
    • Kobae, Hidehiko;
    • Shirai, Tsuyoshi;
    • Nagao, Toshikage;
    • Noma, Kosuke;
    • Okada, Satoshi;
    • Kamuro, Kazuhiro;
    • Okamoto, Yasuhiro;
    • Kanegane, Hirokazu
    Publication type:
    Article
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    Inheritance of STING mosaicism in two half-siblings.

    Published in:
    2024
    By:
    • de Becdelièvre, Alix;
    • Eveillard, Laurye-Anne;
    • Wolska-Kuśnierz, Beata;
    • Frémond, Marie-Louise;
    • Berteloot, Laureline;
    • Crow, Yanick J.;
    • David, Clémence;
    • Hadchouel, Alice;
    • Neven, Bénédicte;
    • Quartier, Pierre;
    • Rice, Gillian I.;
    • Seabra, Luis;
    • Welfringer-Morin, Anne
    Publication type:
    Letter
    7

    Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency.

    Published in:
    Journal of Clinical Immunology, 2024, v. 44, n. 7, p. 1, doi. 10.1007/s10875-024-01758-x
    By:
    • Utsumi, Takanori;
    • Tsumura, Miyuki;
    • Yashiro, Masato;
    • Kato, Zenichiro;
    • Noma, Kosuke;
    • Sakura, Fumiaki;
    • Kagawa, Reiko;
    • Mizoguchi, Yoko;
    • Karakawa, Shuhei;
    • Ohnishi, Hidenori;
    • Cunningham-Rundles, Charlotte;
    • Arkwright, Peter D.;
    • Kobayashi, Masao;
    • Kanegane, Hirokazu;
    • Bogunovic, Dusan;
    • Boisson, Bertrand;
    • Casanova, Jean-Laurent;
    • Asano, Takaki;
    • Okada, Satoshi
    Publication type:
    Article
    8

    Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency.

    Published in:
    Journal of Clinical Immunology, 2024, v. 44, n. 7, p. 1, doi. 10.1007/s10875-024-01758-x
    By:
    • Utsumi, Takanori;
    • Tsumura, Miyuki;
    • Yashiro, Masato;
    • Kato, Zenichiro;
    • Noma, Kosuke;
    • Sakura, Fumiaki;
    • Kagawa, Reiko;
    • Mizoguchi, Yoko;
    • Karakawa, Shuhei;
    • Ohnishi, Hidenori;
    • Cunningham-Rundles, Charlotte;
    • Arkwright, Peter D.;
    • Kobayashi, Masao;
    • Kanegane, Hirokazu;
    • Bogunovic, Dusan;
    • Boisson, Bertrand;
    • Casanova, Jean-Laurent;
    • Asano, Takaki;
    • Okada, Satoshi
    Publication type:
    Article
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    Discordant Phenotypes of Nephritis in Patients with X-linked Agammaglobulinemia.

    Published in:
    Journal of Clinical Immunology, 2024, v. 44, n. 7, p. 1, doi. 10.1007/s10875-024-01766-x
    By:
    • Kanamori, Toru;
    • Udagawa, Tomohiro;
    • Fujii, Takayuki;
    • Matsukura, Hiroyoshi;
    • Iwaya, Yuka;
    • Sonoda, Motoshi;
    • Sugimoto, Keisuke;
    • Takeguchi, Masahiro;
    • Yoshino, Atsunori;
    • Wang, I-Feng;
    • Hwang, Daw-Yang;
    • Schroeder, Harry W.;
    • Shimizu, Masaki;
    • Ochs, Hans D.;
    • Morio, Tomohiro;
    • Kanegane, Hirokazu
    Publication type:
    Article
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    Lymphocyte-Directed Immunomodulation Remits Thymoma-Associated Autoimmune Pneumonitis.

    Published in:
    Journal of Clinical Immunology, 2024, v. 44, n. 7, p. 1, doi. 10.1007/s10875-024-01760-3
    By:
    • Ferré, Elise M. N.;
    • Nichols-Vinueza, Diana X.;
    • Rosen, Lindsey B.;
    • Burbelo, Peter D.;
    • Fennelly, Kevin P.;
    • Pechacek, Joseph;
    • Goldstein, Daniel M.;
    • Agharahimi, Anahita;
    • Saksena, Annapurna;
    • Kleiner, David E.;
    • Demirdag, Yesim Yilmaz;
    • Rajan, Arun;
    • Schrump, David S.;
    • Holland, Steven M.;
    • Freeman, Alexandra F.;
    • Lionakis, Michail S.
    Publication type:
    Article
    20

    Genetic Evaluation of the Patients with Clinically Diagnosed Inborn Errors of Immunity by Whole Exome Sequencing: Results from a Specialized Research Center for Immunodeficiency in Türkiye.

    Published in:
    Journal of Clinical Immunology, 2024, v. 44, n. 7, p. 1, doi. 10.1007/s10875-024-01759-w
    By:
    • Erman, Baran;
    • Aba, Umran;
    • Ipsir, Canberk;
    • Pehlivan, Damla;
    • Aytekin, Caner;
    • Cildir, Gökhan;
    • Cicek, Begum;
    • Bozkurt, Ceren;
    • Tekeoglu, Sidem;
    • Kaya, Melisa;
    • Aydogmus, Cigdem;
    • Cipe, Funda;
    • Sucak, Gulsan;
    • Eltan, Sevgi Bilgic;
    • Ozen, Ahmet;
    • Barıs, Safa;
    • Karakoc-Aydiner, Elif;
    • Kıykım, Ayca;
    • Karaatmaca, Betul;
    • Kose, Hulya
    Publication type:
    Article
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