Works matching IS 02719142 AND DT 2023 AND VI 43 AND IP 8


Results: 59
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    Lung Transplantation under a Janus Kinase Inhibitor in Three Patients with SAVI Syndrome.

    Published in:
    Journal of Clinical Immunology, 2023, v. 43, n. 8, p. 2156, doi. 10.1007/s10875-023-01595-4
    By:
    • Berrada, Kenza Rhzioual;
    • Belot, Alexandre;
    • Neven, Bénédicte;
    • Ohlmann, Camille;
    • Tronc, François;
    • Rice, Gillian;
    • Thouvenin, Guillaume;
    • Dubus, Jean-Christophe;
    • Mazenq, Julie;
    • Frémond, Marie-Louise;
    • Stremler, Nathalie;
    • Soummer-Feuillet, Séverine;
    • Cottin, Vincent;
    • Reix, Philippe
    Publication type:
    Article
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    Correction to: Antibody Deficiency in Patients with Biallelic KARS1 Mutations.

    Published in:
    2023
    By:
    • Saettini, Francesco;
    • Guerra, Fabiola;
    • Fazio, Grazia;
    • Bugarin, Cristina;
    • McMillan, Hugh J.;
    • Ohtake, Akira;
    • Ardissone, Anna;
    • Itoh, Masayuki;
    • Giglio, Sabrina;
    • Cappuccio, Gerarda;
    • Giardino, Giuliana;
    • Romano, Roberta;
    • Quadri, Manuel;
    • Gasperini, Serena;
    • Moratto, Daniele;
    • Chiarini, Marco;
    • Ishiguro, Akira;
    • Fukuhara, Yasuyuki;
    • Hayakawa, Itaru;
    • Okazaki, Yasushi
    Publication type:
    Correction Notice
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    Bone Marrow Failure and Immunodeficiency Associated with Human RAD50 Variants.

    Published in:
    Journal of Clinical Immunology, 2023, v. 43, n. 8, p. 2136, doi. 10.1007/s10875-023-01591-8
    By:
    • Takagi, Masatoshi;
    • Hoshino, Akihiro;
    • Bousset, Kristine;
    • Röddecke, Jule;
    • Martin, Hanna Luisa;
    • Folcut, Iulia;
    • Tomomasa, Dan;
    • Yang, Xi;
    • Kobayashi, Junya;
    • Sakata, Naoki;
    • Yoshida, Kenichi;
    • Miyano, Satoru;
    • Ogawa, Seishi;
    • Kojima, Seiji;
    • Morio, Tomohiro;
    • Dörk, Thilo;
    • Kanegane, Hirokazu
    Publication type:
    Article
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    Neurologic Status of Patients with Purine Nucleoside Phosphorylase Deficiency Before and After Hematopoetic Stem Cell Transplantation.

    Published in:
    Journal of Clinical Immunology, 2023, v. 43, n. 8, p. 2062, doi. 10.1007/s10875-023-01585-6
    By:
    • Karaaslan, Betul Gemici;
    • Turan, Isilay;
    • Aydemir, Sezin;
    • Meric, Zeynep Akyuncu;
    • Atay, Didem;
    • Akcay, Arzu;
    • Sari, Aysun Ayaz;
    • Hershfield, Michael;
    • Cipe, Funda;
    • Aksoy, Basak Adakli;
    • Ersoy, Gizem Zengin;
    • Bozkurt, Ceyhun;
    • Demirkol, Yasemin Kendir;
    • Ozturk, Gulyuz;
    • Aydogmus, Cigdem;
    • Kiykim, Ayca;
    • Cokugras, Haluk
    Publication type:
    Article
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    Antibody Deficiency in Patients with Biallelic KARS1 Mutations.

    Published in:
    Journal of Clinical Immunology, 2023, v. 43, n. 8, p. 2115, doi. 10.1007/s10875-023-01584-7
    By:
    • Saettini, Francesco;
    • Guerra, Fabiola;
    • Fazio, Grazia;
    • Bugarin, Cristina;
    • McMillan, Hugh J;
    • Ohtake, Akira;
    • Ardissone, Anna;
    • Itoh, Masayuki;
    • Giglio, Sabrina;
    • Cappuccio, Gerarda;
    • Giardino, Giuliana;
    • Romano, Roberta;
    • Quadri, Manuel;
    • Gasperini, Serena;
    • Moratto, Daniele;
    • Chiarini, Marco;
    • Akira, Ishiguro;
    • Fukuhara, Yasuyuki;
    • Hayakawa, Itaru;
    • Okazaki, Yasushi
    Publication type:
    Article
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    A Nationwide Study of GATA2 Deficiency in Italy Reveals Novel Symptoms and Genotype–phenotype Association.

    Published in:
    Journal of Clinical Immunology, 2023, v. 43, n. 8, p. 2192, doi. 10.1007/s10875-023-01583-8
    By:
    • Roncareggi, Samuele;
    • Girardi, Katia;
    • Fioredda, Francesca;
    • Pedace, Lucia;
    • Arcuri, Luca;
    • Badolato, Raffaele;
    • Bonanomi, Sonia;
    • Borlenghi, Erika;
    • Cirillo, Emilia;
    • Coliva, Tiziana;
    • Consonni, Filippo;
    • Conti, Francesca;
    • Farruggia, Piero;
    • Gambineri, Eleonora;
    • Guerra, Fabiola;
    • Locatelli, Franco;
    • Mancuso, Gaia;
    • Marzollo, Antonio;
    • Masetti, Riccardo;
    • Micalizzi, Concetta
    Publication type:
    Article
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    A Novel Homozygous Mutation Causing Complete TYK2 Deficiency, with Severe Respiratory Viral Infections, EBV-Driven Lymphoma, and Jamestown Canyon Viral Encephalitis.

    Published in:
    Journal of Clinical Immunology, 2023, v. 43, n. 8, p. 2011, doi. 10.1007/s10875-023-01580-x
    By:
    • Roussel, Lucie;
    • Pham-Huy, Anne;
    • Yu, Andrea C.;
    • Venkateswaran, Sunita;
    • Perez, Anna;
    • Bourdel, Guillaume;
    • Sun, Yichun;
    • Villavicencio, Stephanya Tellez;
    • Bernier, Stéphane;
    • Li, Yongbiao;
    • Kazimerczak-Brunet, Makayla;
    • Alattar, Rolan;
    • Déry, Marc-André;
    • Shapiro, Adam J.;
    • Penner, Justin;
    • Vinh, Donald C.
    Publication type:
    Article
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    Phenotypic Variability in PRKCD: a Review of the Literature.

    Published in:
    Journal of Clinical Immunology, 2023, v. 43, n. 8, p. 1692, doi. 10.1007/s10875-023-01579-4
    By:
    • Jefferson, Lucy;
    • Ramanan, Athimalaipet Vaidyanathan;
    • Jolles, Stephen;
    • Bernatoniene, Jolanta;
    • Mathieu, Anne-Laure;
    • Belot, Alexandre;
    • Roderick, Marion Ruth
    Publication type:
    Article
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    Peripheral T Cell Populations are Differentially Affected in Familial Mediterranean Fever, Chronic Granulomatous Disease, and Gout.

    Published in:
    Journal of Clinical Immunology, 2023, v. 43, n. 8, p. 2033, doi. 10.1007/s10875-023-01576-7
    By:
    • Al, Burcu;
    • Bruno, Mariolina;
    • Röring, Rutger J.;
    • Moorlag, Simone J. C. F. M.;
    • Suen, Tsz Kin;
    • Klück, Viola;
    • Liu, Ruiqi;
    • Debisarun, Priya A.;
    • Gaal, Orsolya;
    • Bhat, Jaydeep;
    • Kabelitz, Dieter;
    • van de Veerdonk, Frank L.;
    • Joosten, Leo A.B.;
    • Netea, Mihai G.;
    • Placek, Katarzyna
    Publication type:
    Article
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    Proteomic Analysis of Pediatric Hemophagocytic Lymphohistiocytosis: a Comparative Study with Healthy Controls, Sepsis, Critical Ill, and Active Epstein-Barr virus Infection to Identify Altered Pathways and Candidate Biomarkers.

    Published in:
    Journal of Clinical Immunology, 2023, v. 43, n. 8, p. 1997, doi. 10.1007/s10875-023-01573-w
    By:
    • Li, Xun;
    • Luo, Ting;
    • Yan, Haipeng;
    • Xie, Longlong;
    • Yang, Yufan;
    • Gong, Ling;
    • Tang, Zhexuan;
    • Tang, Minghui;
    • Zhang, Xinping;
    • Huang, Jiaotian;
    • Zheng, Mincui;
    • Yao, Zhenya;
    • Zang, Ping;
    • Zhu, Desheng;
    • Xiao, Zhenghui;
    • Lu, Xiulan
    Publication type:
    Article
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    Systematic Approach Revealed SERPING1 Splicing-Affecting Variants to be Highly Represented in the Czech National HAE Cohort.

    Published in:
    Journal of Clinical Immunology, 2023, v. 43, n. 8, p. 1974, doi. 10.1007/s10875-023-01565-w
    By:
    • Grombirikova, Hana;
    • Bily, Viktor;
    • Soucek, Premysl;
    • Kramarek, Michal;
    • Hakl, Roman;
    • Ballonova, Lucie;
    • Ravcukova, Barbora;
    • Ricna, Dita;
    • Kozena, Karolina;
    • Kratochvilova, Lucie;
    • Sobotkova, Marta;
    • Zachova, Radana;
    • Kuklinek, Pavel;
    • Kralickova, Pavlina;
    • Krcmova, Irena;
    • Hanzlikova, Jana;
    • Vachova, Martina;
    • Krystufkova, Olga;
    • Dankova, Eva;
    • Jesenak, Milos
    Publication type:
    Article
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    Correction to: Immunologic and Genetic Contributors to CD46‑Dependent Immune Dysregulation.

    Published in:
    2023
    By:
    • Meyer, Benedikt J;
    • Kunz, Natalia;
    • Seki, Sayuri;
    • Higgins, Rebecca;
    • Ghosh, Adhideb;
    • Hupfer, Robin;
    • Baldrich, Adrian;
    • Hirsiger, Julia R;
    • Jauch, Annaïse J;
    • Burgener, Anne-Valerie;
    • Lötscher, Jonas;
    • Aschwanden, Markus;
    • Dickenmann, Michael;
    • Stegert, Mihaela;
    • Berger, Christoph T;
    • Daikeler, Thomas;
    • Heijnen, Ingmar;
    • Navarini, Alexander A;
    • Rudin, Christoph;
    • Yamamoto, Hiroyuki
    Publication type:
    Correction Notice
    39

    Clinical, Immunological, and Genetic Findings in Iranian Patients with MHC-II Deficiency: Confirmation of c.162delG RFXANK Founder Mutation in the Iranian Population.

    Published in:
    Journal of Clinical Immunology, 2023, v. 43, n. 8, p. 1941, doi. 10.1007/s10875-023-01562-z
    By:
    • Mousavi Khorshidi, Mohadese Sadat;
    • Seeleuthner, Yoann;
    • Chavoshzadeh, Zahra;
    • Behfar, Maryam;
    • Hamidieh, Amir Ali;
    • Alimadadi, Hosein;
    • Sherkat, Roya;
    • Momen, Tooba;
    • Behniafard, Nasrin;
    • Eskandarzadeh, Shabnam;
    • Mansouri, Mahboubeh;
    • Behnam, Mahdiyeh;
    • Mahdavi, Mohadese;
    • Heydarazad Zadeh, Maryam;
    • Shokri, Mehdi;
    • Alizadeh, Fatemeh;
    • Movahedi, Mahshid;
    • Momenilandi, Mana;
    • Keramatipour, Mohammad;
    • Casanova, Jean-Laurent
    Publication type:
    Article
    40

    A Novel CDC42 Variant with Impaired Thymopoiesis, IL-7R Signaling, PAK1 Binding, and TCR Repertoire Diversity.

    Published in:
    Journal of Clinical Immunology, 2023, v. 43, n. 8, p. 1927, doi. 10.1007/s10875-023-01561-0
    By:
    • Assing, Kristian;
    • Jørgensen, Sofie E.;
    • Sandgaard, Katrine S.;
    • De Keukeleere, Kerstin;
    • B.-Hansen, Marie;
    • Petersen, Mikkel S.;
    • Hartling, Ulla B.;
    • Vaal, Thanis M. K.-de;
    • Nielsen, Christian;
    • Jakobsen, Marianne A.;
    • Watt, Eleanor;
    • Adams, Stuart;
    • Hao, Qin;
    • Fagerberg, Christina;
    • Mogensen, Trine H.
    Publication type:
    Article
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    Molecular Challenges in the Diagnosis of X-Linked Chronic Granulomatous Disease: CNVs, Intronic Variants, Skewed X-Chromosome Inactivation, and Gonosomal Mosaicism.

    Published in:
    Journal of Clinical Immunology, 2023, v. 43, n. 8, p. 1953, doi. 10.1007/s10875-023-01556-x
    By:
    • Batlle-Masó, Laura;
    • Rivière, Jacques G.;
    • Franco-Jarava, Clara;
    • Martín-Nalda, Andrea;
    • Garcia-Prat, Marina;
    • Parra-Martínez, Alba;
    • Aguiló-Cucurull, Aina;
    • Castells, Neus;
    • Martinez-Gallo, Mónica;
    • Soler-Palacín, Pere;
    • Colobran, Roger
    Publication type:
    Article
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    Atypical Localization of Eczema Discriminates DOCK8 or STAT3 Deficiencies from Atopic Dermatitis.

    Published in:
    Journal of Clinical Immunology, 2023, v. 43, n. 8, p. 1882, doi. 10.1007/s10875-023-01554-z
    By:
    • Kasap, Nurhan;
    • Kara, Altan;
    • Celik, Velat;
    • Bilgic Eltan, Sevgi;
    • Akay Haci, Idil;
    • Kose, Hulya;
    • Aygun, Ayse;
    • Akkelle, Emre;
    • Yakici, Nalan;
    • Guner, Sukru Nail;
    • Reisli, Ismail;
    • Keles, Sevgi;
    • Cekic, Sukru;
    • Kilic, Sara Sebnem;
    • Karaca, Neslihan Edeer;
    • Gulez, Nesrin;
    • Genel, Ferah;
    • Ozen, Ahmet;
    • Yucelten, Ayse Deniz;
    • Karakoc-Aydiner, Elif
    Publication type:
    Article
    48

    A Clinical Conundrum with Diagnostic and Therapeutic Challenge: a Tale of Two Disorders in One Case.

    Published in:
    Journal of Clinical Immunology, 2023, v. 43, n. 8, p. 1891, doi. 10.1007/s10875-023-01553-0
    By:
    • Gaikwad, Pallavi;
    • Bargir, Umair Ahmed;
    • Shinde, Shweta;
    • Kini, Pranoti;
    • Chaurasia, Rajesh;
    • Yadav, Usha;
    • Dhawale, Amruta;
    • George, Merin;
    • Jodhawat, Neha;
    • Setia, Priyanka;
    • Vedpathak, Disha;
    • Dalvi, Aparna;
    • Parab, Ankita;
    • Gupta, Maya;
    • Yadav, Reetika Malik;
    • Goriwale, Mayuri;
    • Vundinti, Baburao;
    • Bhat, Nagesh;
    • Sapra, B. K.;
    • Otiv, Madhumati
    Publication type:
    Article
    49

    Common and Uncommon CT Findings in CVID-Related GL-ILD: Correlations with Clinical Parameters, Therapeutic Decisions and Potential Implications in the Differential Diagnosis.

    Published in:
    Journal of Clinical Immunology, 2023, v. 43, n. 8, p. 1903, doi. 10.1007/s10875-023-01552-1
    By:
    • Scarpa, Riccardo;
    • Cinetto, Francesco;
    • Milito, Cinzia;
    • Gianese, Sabrina;
    • Soccodato, Valentina;
    • Buso, Helena;
    • Garzi, Giulia;
    • Carrabba, Maria;
    • Messina, Emanuele;
    • Panebianco, Valeria;
    • Catalano, Carlo;
    • Morana, Giovanni;
    • Lougaris, Vassilios;
    • Landini, Nicholas;
    • Bondioni, Maria Pia
    Publication type:
    Article
    50

    An International Survey of Allogeneic Hematopoietic Cell Transplantation for X-Linked Agammaglobulinemia.

    Published in:
    Journal of Clinical Immunology, 2023, v. 43, n. 8, p. 1827, doi. 10.1007/s10875-023-01551-2
    By:
    • Nishimura, Akira;
    • Uppuluri, Ramya;
    • Raj, Revathi;
    • Swaminathan, Venkateswaran Vellaichamy;
    • Cheng, Yifei;
    • Abu-Arja, Rolla F.;
    • Fu, Bin;
    • Laberko, Alexandra;
    • Albert, Michael H.;
    • Hauck, Fabian;
    • Bucciol, Giorgia;
    • Bigley, Venetia;
    • Elcombe, Suzanne;
    • Kharya, Gaurav;
    • Pronk, Cornelis Jan H;
    • Wehr, Claudia;
    • Neven, Bénédicte;
    • Warnatz, Klaus;
    • Meyts, Isabelle;
    • Morio, Tomohiro
    Publication type:
    Article