Works matching IS 02719142 AND DT 2024 AND VI 44 AND IP 2

Results: 19

Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 2, p. 1, doi. 10.1007/s10875-024-01660-6
By:
- David, Clémence;
- Badonyi, Mihaly;
- Kechiche, Robin;
- Insalaco, Antonella;
- Zecca, Marco;
- De Benedetti, Fabrizio;
- Orcesi, Simona;
- Chiapparini, Luisa;
- Comoli, Patrizia;
- Federici, Silvia;
- Gattorno, Marco;
- Ginevrino, Monia;
- Giorgio, Elisa;
- Matteo, Valentina;
- Moran-Alvarez, Patricia;
- Politano, Davide;
- Prencipe, Giusi;
- Sirchia, Fabio;
- Volpi, Stefano;
- Masson, Cécile
Publication type:
Article
High Prevalence of Long COVID in Common Variable Immunodeficiency: An Italian Multicentric Study.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 2, p. 1, doi. 10.1007/s10875-024-01656-2
By:
- Villa, Annalisa;
- Milito, Cinzia;
- Deiana, Carla Maria;
- Gambier, Renato Finco;
- Punziano, Alessandra;
- Buso, Helena;
- Bez, Patrick;
- Lagnese, Gianluca;
- Garzi, Giulia;
- Costanzo, Giulia;
- Giannuzzi, Gloria;
- Pagnozzi, Chiara;
- Dalm, Virgil A. S. H.;
- Spadaro, Giuseppe;
- Rattazzi, Marcello;
- Cinetto, Francesco;
- Firinu, Davide
Publication type:
Article
Epidermodysplasia Verruciformis in CADINS Disease: Expanding the Phenotype.
Published in:
2024
By:
- Aggarwal, Ridhima;
- Spratt, Alison R.;
- Goel, Sumit;
- Keshavamurthy, Vinay;
- Sekar, Aravind;
- Rawat, Amit;
- Snow, Andrew L.;
- Vignesh, Pandiarajan
Publication type:
Letter
A Rare AIOLOS N160S Variant Causing IEI in Human.
Published in:
2024
By:
- Özdemir, Öner;
- Dikici, Ümmügülsüm;
- Yarar, Murat Hakkı;
- Yamashita, Motoi;
- Morio, Tomohiro
Publication type:
Letter
A Novel Homozygous Germline Mutation in Transferrin Receptor 1 (TfR1) Leads to Combined Immunodeficiency and Provides New Insights into Iron-Immunity Axis.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 2, p. 1, doi. 10.1007/s10875-024-01658-0
By:
- Aba, Ümran;
- Maslak, İbrahim Cemal;
- İpşir, Canberk;
- Pehlivan, Damla;
- Warnock, Nicholas I.;
- Tumes, Damon J.;
- Cildir, Gökhan;
- Erman, Baran
Publication type:
Article
Impaired STING Activation Due to a Variant in the E3 Ubiquitin Ligase AMFR in a Patient with Severe VZV Infection and Hemophagocytic Lymphohistiocytosis.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 2, p. 1, doi. 10.1007/s10875-024-01653-5
By:
- Thomsen, Michelle Mølgaard;
- Skouboe, Morten Kelder;
- Møhlenberg, Michelle;
- Zhao, Jian;
- de Keukeleere, Kerstin;
- Heinz, Johanna Laura;
- Werner, Marvin;
- Hollensen, Anne Kruse;
- Lønskov, Jonas;
- Nielsen, Ian;
- Carter-Timofte, Madalina Elena;
- Zhang, Baocun;
- Mikkelsen, Jacob Giehm;
- Fisker, Niels;
- Paludan, Søren R.;
- Assing, Kristian;
- Mogensen, Trine H.
Publication type:
Article
Role of Skewed X-Chromosome Inactivation in Common Variable Immunodeficiency.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 2, p. 1, doi. 10.1007/s10875-024-01659-z
By:
- Garcia-Prat, Marina;
- Batlle-Masó, Laura;
- Parra-Martínez, Alba;
- Franco-Jarava, Clara;
- Martinez-Gallo, Mónica;
- Aguiló-Cucurull, Aina;
- Perurena-Prieto, Janire;
- Castells, Neus;
- Urban, Blanca;
- Dieli-Crimi, Romina;
- Soler-Palacín, Pere;
- Colobran, Roger
Publication type:
Article
Correction to: Clinical Practice Guidelines for the Immunological Management of Chromosome 22q11.2 Deletion Syndrome and Other Defects in Thymic Development.
Published in:
2024
By:
- Mustillo, Peter J.;
- Sullivan, Kathleen E.;
- Chinn, Ivan K.;
- Notarangelo, Luigi D.;
- Haddad, Elie;
- Davies, E. Graham;
- de la Morena, Maria Teresa;
- Hartog, Nicholas;
- Yu, Joyce E.;
- Hernandez-Trujillo, Vivian P.;
- Ip, Winnie;
- Franco, Jose;
- Gambineri, Eleonora;
- Hickey, Scott E.;
- Varga, Elizabeth;
- Markert, M. Louise
Publication type:
Correction Notice
Patient-Reported Outcomes and Medical Provider Satisfaction Among Adult and Pediatric Ataxia-Telangiectasia Patients.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 2, p. 1, doi. 10.1007/s10875-024-01652-6
By:
- Kridli, Nadine;
- Sturza, Julie;
- Michniacki, Thomas F.
Publication type:
Article
Novel Pathogenic C5 Gene Variants in a Patient with Neisseria Meningitis and Diffuse Cutaneous HSV-1 Infection.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 2, p. 1, doi. 10.1007/s10875-024-01651-7
By:
- Day, W. Grant;
- Horn, Christian;
- Hogue, Jacob S.;
- Magee, Jared;
- Shayegan, Shahrooz;
- Pittman, Luke
Publication type:
Article
Pediatric Pancytopenia and Monosomy 7: A Case Report of SAMD9L-Associated Disease.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 2, p. 1, doi. 10.1007/s10875-023-01650-0
By:
- Iyengar, Vaishnavi V.;
- Chougule, Akshaya;
- Gowri, Vijaya;
- Taur, Prasad;
- Bodhanwala, Minnie;
- Desai, Mukesh M.
Publication type:
Article
Pyrin Inflammasome Activation Defines Colchicine-Responsive SURF Patients from FMF and Other Recurrent Fevers.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 2, p. 1, doi. 10.1007/s10875-023-01649-7
By:
- Palmeri, Serena;
- Penco, Federica;
- Bertoni, Arinna;
- Bustaffa, Marta;
- Matucci-Cerinic, Caterina;
- Papa, Riccardo;
- Drago, Enrico;
- Caorsi, Roberta;
- Corcione, Anna;
- Bocca, Paola;
- Scarone, Cristina;
- Rubartelli, Anna;
- Volpi, Stefano;
- Gattorno, Marco;
- Prigione, Ignazia
Publication type:
Article
Influence of Splenomegaly and Splenectomy on the Immune Cell Profile of Patients with Common Variable Immunodeficiency Disease.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 2, p. 1, doi. 10.1007/s10875-023-01648-8
By:
- Viallard, Jean-François;
- Parrens, Marie;
- Blanco, Patrick;
- Moreau, Jean-François;
- Oksenhendler, Eric;
- Fieschi, Claire
Publication type:
Article
The Inborn Errors of Immunity—Virtual Consultation System Platform in Service for the Italian Primary Immunodeficiency Network: Results from the Validation Phase.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 2, p. 1, doi. 10.1007/s10875-023-01644-y
By:
- Coppola, Emma;
- Sgrulletti, Mayla;
- Cortesi, Manuela;
- Romano, Roberta;
- Cirillo, Emilia;
- Giardino, Giuliana;
- Dotta, Laura;
- Cancrini, Caterina;
- Bruzzese, Dario;
- Badolato, Raffaele;
- Moschese, Viviana;
- Pignata, Claudio;
- Alessandro, Aiuti;
- Amodio, Donato;
- Azzari, Chiara;
- Canessa, Clementina;
- Caorsi, Roberta;
- Castagnoli, Riccardo;
- Cicalese, Maria Pia;
- Conti, Francesca
Publication type:
Article
Autoantibody-Mediated Depletion of IL-1RA in Still's Disease and Potential Impact of IL-1 Targeting Therapies.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 2, p. 1, doi. 10.1007/s10875-023-01642-0
By:
- Hoffmann, Marie-Christin;
- Cavalli, Giulio;
- Fadle, Natalie;
- Cantoni, Eleonora;
- Regitz, Evi;
- Fleser, Octavian;
- Klemm, Philipp;
- Zaks, Marina;
- Stöger, Elisabeth;
- Campochiaro, Corrado;
- Tomelleri, Alessandro;
- Baldissera, Elena;
- Bittenbring, Jörg Thomas;
- Zimmer, Vincent;
- Pfeifer, Jochen;
- Fischer, Yvan;
- Preuss, Klaus-Dieter;
- Bewarder, Moritz;
- Thurner, Bernhard;
- Fuehner, Sabrina
Publication type:
Article
Evaluation of Genetic or Cellular Impairments in Type I IFN Immunity in a Cohort of Young Adults with Critical COVID-19.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 2, p. 1, doi. 10.1007/s10875-023-01641-1
By:
- Covill, L. E.;
- Sendel, A.;
- Campbell, T. M.;
- Piiroinen, I.;
- Enoksson, S. Lind;
- Borgström, E. Wahren;
- Hansen, S.;
- Ma, K.;
- Marits, P.;
- Norlin, A. C.;
- Smith, C. I. E.;
- Kåhlin, J.;
- Eriksson, L. I.;
- Bergman, P.;
- Bryceson, Y. T.
Publication type:
Article
Management of Atopy with Dupilumab and Omalizumab in CADINS Disease.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 2, p. 1, doi. 10.1007/s10875-023-01636-y
By:
- Diaz-Cabrera, Natalie M.;
- Bauman, Bradly M.;
- Iro, Mildred A.;
- Dabbah-Krancher, Gina;
- Molho-Pessach, Vered;
- Zlotogorski, Abraham;
- Shamriz, Oded;
- Dinur-Schejter, Yael;
- Sharon, Tatyana Dubnikov;
- Stepensky, Polina;
- Tal, Yuval;
- Eisenstein, Eli M.;
- Pietzsch, Leonora;
- Schuetz, Catharina;
- Abreu, Damien;
- Coughlin, Carrie C.;
- Cooper, Megan A.;
- Milner, Joshua D.;
- Williams, Anthony;
- Armoni-Weiss, Gil
Publication type:
Article
"Deficiency in ELF4, X-Linked": a Monogenic Disease Entity Resembling Behçet's Syndrome and Inflammatory Bowel Disease.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 2, p. 1, doi. 10.1007/s10875-023-01610-8
By:
- Olyha, Sam J.;
- O'Connor, Shannon K.;
- Kribis, Marat;
- Bucklin, Molly L.;
- Uthaya Kumar, Dinesh Babu;
- Tyler, Paul M.;
- Alam, Faiad;
- Jones, Kate M.;
- Sheikha, Hassan;
- Konnikova, Liza;
- Lakhani, Saquib A.;
- Montgomery, Ruth R.;
- Catanzaro, Jason;
- Du, Hongqiang;
- DiGiacomo, Daniel V.;
- Rothermel, Holly;
- Moran, Christopher J.;
- Fiedler, Karoline;
- Warner, Neil;
- Hoppenreijs, Esther P.A.H.
Publication type:
Article
Clinical and Treatment History of Patients with Partial DiGeorge Syndrome and Autoimmune Cytopenia at Multiple Centers.
Published in:
Journal of Clinical Immunology, 2024, v. 44, n. 2, p. 1, doi. 10.1007/s10875-023-01607-3
By:
- Patel, Priya K.;
- Chinga, Michell Lozano;
- Yilmaz, Melis;
- Joychan, Sonia;
- Ujhazi, Boglarka;
- Ellison, Maryssa;
- Gordon, Sumai;
- Nieves, Daime;
- Csomos, Krisztian;
- Eslin, Don;
- Afify, Zeinab A.;
- Meznarich, Jessica;
- Bohnsack, John;
- Walkovich, Kelly;
- Seidel, Markus G.;
- Sharapova, Svetlana;
- Boyarchyk, Oksana;
- Latysheva, Elena;
- Tuzankina, Irina;
- Shaker, Ahmad B.
Publication type:
Article