Works matching DE "SEVERE combined immunodeficiency"


Results: 1180
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    A Novel R140S γc Variant Alters Cellular Distribution, Reduces Surface Expression, and Impairs Cytokine Signaling in Atypical X-SCID.

    Published in:
    Journal of Clinical Immunology, 2025, v. 45, n. 1, p. 1, doi. 10.1007/s10875-025-01917-8
    By:
    • Dong, Lulu;
    • Sun, Bijun;
    • Min, Qing;
    • Meng, Xin;
    • Li, Yaxuan;
    • Yu, Meiping;
    • Wen, Zichao;
    • Wu, Xuzhe;
    • Hu, Ziying;
    • Zhang, Runyun;
    • Feng, Xiaoqian;
    • Luan, Yingying;
    • Lu, Chunhui;
    • Wang, Wenjie;
    • Hui, Xiaoying;
    • Hou, Jia;
    • Sun, Jinqiao;
    • Cai, Shen;
    • Wang, Xiaochuan;
    • Wang, Ji-Yang
    Publication type:
    Article
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    Clinical and Mutation Description of the First Iranian Cohort of Infantile Inflammatory Bowel Disease: The Iranian Primary Immunodeficiency Registry (IPIDR).

    Published in:
    Immunological Investigations, 2021, v. 50, n. 4, p. 445, doi. 10.1080/08820139.2020.1776725
    By:
    • Rahmani, Farzaneh;
    • Rayzan, Elham;
    • Rahmani, Mohammad Reza;
    • Shahkarami, Sepideh;
    • Zoghi, Samaneh;
    • Rezaei, Arezoo;
    • Aryan, Zahra;
    • Najafi, Mehri;
    • Rohlfs, Meino;
    • Jeske, Tim;
    • Aflatoonian, Majid;
    • Chavoshzadeh, Zahra;
    • Farahmand, Fatemeh;
    • Motamed, Farzaneh;
    • Rohani, Pejman;
    • Alimadadi, Hossein;
    • Mahdaviani, Alireza;
    • Mansouri, Mahboubeh;
    • Tavakol, Marzieh;
    • Vanderberg, Mirjam
    Publication type:
    Article
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    Severe Combined Immunodeficiences: New and Old Scenarios.

    Published in:
    International Reviews of Immunology, 2012, v. 31, n. 1, p. 43, doi. 10.3109/08830185.2011.644607
    By:
    • Aloj, Giuseppina;
    • Giardino, Giuliana;
    • Valentino, Leopoldo;
    • Maio, Filomena;
    • Gallo, Vera;
    • Esposito, Tiziana;
    • Naddei, Roberta;
    • Cirillo, Emilia;
    • Pignata, Claudio
    Publication type:
    Article
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    Tackling Infectious Diseases in the Caribbean and South America: Epidemiological Insights, Antibiotic Resistance, Associated Infectious Diseases in Immunological Disorders, Global Infection Response, and Experimental Anti-Idiotypic Vaccine Candidates Against Microorganisms of Public Health Importance

    Published in:
    Microorganisms, 2025, v. 13, n. 2, p. 282, doi. 10.3390/microorganisms13020282
    By:
    • Justiz-Vaillant, Angel;
    • Soodeen, Sachin;
    • Gopaul, Darren;
    • Arozarena-Fundora, Rodolfo;
    • Thompson, Reinand;
    • Unakal, Chandrashekhar;
    • Akpaka, Patrick E.
    Publication type:
    Article
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    NK Cells from RAG- or DCLRE1C-Deficient Patients Inhibit HCMV.

    Published in:
    Microorganisms, 2019, v. 7, n. 11, p. 546, doi. 10.3390/microorganisms7110546
    By:
    • Wu, Zeguang;
    • Subramanian, Narmadha;
    • Jacobsen, Eva-Maria;
    • Laib Sampaio, Kerstin;
    • van der Merwe, Johannes;
    • Hönig, Manfred;
    • Mertens, Thomas
    Publication type:
    Article
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    The effects of postponing BCG vaccination on the risk of BCG-related complications among patients with severe combined immunodeficiency disease in Saudi Arabia.

    Published in:
    Frontiers in Immunology, 2025, p. 1, doi. 10.3389/fimmu.2025.1596963
    By:
    • Aldhaheri, Amal;
    • Alyabes, Ohoud;
    • Aljumaah, Suliman;
    • Alhuthil, Raghad;
    • Alonazi, Raghad;
    • Alamoudi, Shefa;
    • Alsuhaibani, Mohammed;
    • Alghamdi, Salem;
    • Albanyan, Esam A.;
    • Al-Hajjar, Sami;
    • Mohammed, Reem;
    • Arnaout, Rand;
    • Albuhairi, Sultan;
    • Alrumayyan, Nora;
    • Al-Saud, Bandar;
    • Al-Mousa, Hamoud
    Publication type:
    Article
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    Functional insights of an uncommon hypomorphic variant in IL2RG as a monogenic cause of CVID-like disease with antibody deficiency and T CD4 lymphopenia.

    Published in:
    Frontiers in Immunology, 2025, p. 1, doi. 10.3389/fimmu.2025.1544863
    By:
    • González-Torbay, Andrea;
    • Reche-Yebra, Keren;
    • Clemente-Bernal, Álvaro;
    • Serrano, Yolanda Soto;
    • Bravo-Gallego, Luz Yadira;
    • Fernández López, Almudena;
    • Rodríguez-Pena, Rebeca;
    • García-Morato, María Bravo;
    • López-Granados, Eduardo;
    • del Pino-Molina, Lucía
    Publication type:
    Article
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    Perspectives in newborn screening for SCID in Japan. Case report: newborn screening identified X-linked severe combined immunodeficiency with a novel IL2RG variant.

    Published in:
    Frontiers in Immunology, 2024, p. 1, doi. 10.3389/fimmu.2024.1478411
    By:
    • Beppu, Shiro;
    • Nishikawa, Takuro;
    • Tomomasa, Dan;
    • Hijikata, Atsushi;
    • Kasabata, Hiroshi;
    • Terazono, Hideyuki;
    • Ikawa, Kazuro;
    • Nakamura, Tatsuro;
    • Horikawa, Shogo;
    • Nagahama, Jun;
    • Nakamura, Aki;
    • Abematsu, Takanari;
    • Nakagawa, Shunsuke;
    • Oketani, Kaoru;
    • Kanegane, Hirokazu;
    • Okamoto, Yasuhiro
    Publication type:
    Article
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    Newborn screening for severe combined immunodeficiency in Malaysia: current status, challenges and progress.

    Published in:
    Frontiers in Immunology, 2024, p. 1, doi. 10.3389/fimmu.2024.1456769
    By:
    • Wai Leng Chang;
    • Noh, Lokman Mohd;
    • Abdul Latiff, Amir Hamzah;
    • Keen Woo, Kent Chee;
    • Ismail, Intan Hakimah;
    • Abd Hamid, Intan Juliana;
    • Siniah, Sangeetha;
    • Zainal Abidin, Mohd Azri;
    • Sham, Marina;
    • Ripen, Adiratna Mat;
    • Baharin, Mohd Farid;
    • Wahab, Asrul Abdul;
    • Zainudeen, Zarina Thasneem;
    • Hashim, Ilie Fadzilah;
    • Yee Ming Wong;
    • Ahmad Shawaludin, Mohamad Qazreen;
    • Ali, Adli
    Publication type:
    Article
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    Newborn screening for SCID: the very first prospective pilot study from Türkiye.

    Published in:
    Frontiers in Immunology, 2024, p. 1, doi. 10.3389/fimmu.2024.1384195
    By:
    • Haskologlu, Sule;
    • Kocak, Senem;
    • Tufan, Lale Satiroglu;
    • Aksoy, Fethiye Eken;
    • Bastug, Dilan;
    • Oner, Deniz Aslar;
    • Islamoglu, Candan;
    • Baskin, Kubra;
    • Esenboga, Saliha;
    • Acican, Deniz;
    • Ceylaner, Serdar;
    • Guner, Sukru Nail;
    • Keles, Sevgi;
    • Cagdas, Deniz;
    • Reisli, Ismail;
    • Tezel, Basak;
    • Dogu, Figen;
    • Tezcan, Ilhan;
    • Ikinciogullari, Aydan
    Publication type:
    Article
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    Newborn screening for severe combined immunodeficiency in Malaysia: current status, challenges and progress.

    Published in:
    Frontiers in Immunology, 2024, p. 1, doi. 10.3389/fimmu.2024.1456769
    By:
    • Wai Leng Chang;
    • Noh, Lokman Mohd;
    • Abdul Latiff, Amir Hamzah;
    • Kent Chee Keen Woo;
    • Ismail, Intan Hakimah;
    • Abd Hamid, Intan Juliana;
    • Siniah, Sangeetha;
    • Zainal Abidin, Mohd Azri;
    • Sham, Marina;
    • Ripen, Adiratna Mat;
    • Baharin, Mohd Farid;
    • Wahab, Asrul Abdul;
    • Zainudeen, Zarina Thasneem;
    • Hashim, Ilie Fadzilah;
    • Yee Ming Wong;
    • Ahmad Shawaludin, Mohamad Qazreen;
    • Ali, Adli
    Publication type:
    Article
    50

    Newborn screening for SCID: the very first prospective pilot study from Türkiye.

    Published in:
    Frontiers in Immunology, 2024, p. 1, doi. 10.3389/fimmu.2024.1384195
    By:
    • Haskologlu, Sule;
    • Kocak, Senem;
    • Tufan, Lale Satiroglu;
    • Aksoy, Fethiye Eken;
    • Bastug, Dilan;
    • Oner, Deniz Aslar;
    • Islamoglu, Candan;
    • Baskin, Kubra;
    • Esenboga, Saliha;
    • Acican, Deniz;
    • Ceylaner, Serdar;
    • Guner, Sukru Nail;
    • Keles, Sevgi;
    • Cagdas, Deniz;
    • Reisli, Ismail;
    • Tezel, Basak;
    • Dogu, Figen;
    • Tezcan, Ilhan;
    • Ikinciogullari, Aydan
    Publication type:
    Article