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Results: 26

De Novo Somatic Mosaicism of CYBB Caused by Intronic LINE-1 Element Insertion Resulting in Chronic Granulomatous Disease.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 1, p. 88, doi. 10.1007/s10875-022-01347-w
By:
- Yu, Lang;
- Li, Wenhui;
- Lv, Ge;
- Sun, Gan;
- Yang, Lu;
- Chen, Junjie;
- Zhou, Lina;
- Ding, Yuan;
- Zhang, Zhiyong;
- Tang, Xuemei;
- An, Yunfei;
- Zhao, Xiaodong
Publication type:
Article
Delayed Diagnosis of Chronic Necrotizing Granulomatous Skin Lesions due to TAP2 Deficiency.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 1, p. 217, doi. 10.1007/s10875-022-01374-7
By:
- Darazam, Ilad Alavi;
- Hakamifard, Atousa;
- Momenilandi, Mana;
- Materna, Marie;
- Gharehbagh, Farid Javandoust;
- Shahrooei, Mohammad;
- Olyaei, Nasrin Alipour;
- Zerehpoosh, Farahnaz Bidari;
- Fayand, Antoine;
- Hatami, Firouze;
- Lotfollahi, Legha;
- Mansouri, Nahal;
- Casanova, Jean-Laurent;
- Béziat, Vivien;
- Mansouri, Davood
Publication type:
Article
A Novel RAC2 Mutation Causing Combined Immunodeficiency.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 1, p. 229, doi. 10.1007/s10875-022-01373-8
By:
- Zhang, Liang;
- Lv, Ge;
- Peng, Yu;
- Yang, Lu;
- Chen, Junjie;
- An, Yunfei;
- Zhang, Zhiyong;
- Tang, Xuemei;
- Li, Zhihui;
- Zhao, Xiaodong
Publication type:
Article
Granulicatella adiacens Bacteremia in Chronic Granulomatous Disease.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 1, p. 85, doi. 10.1007/s10875-022-01371-w
By:
- Okai, Masashi;
- Ishikawa, Takashi;
- Tamura, Eiichiro;
- Matsui, Toshihiro;
- Kawai, Toshinao
Publication type:
Article
Long-Term Antibody Response to SARS-CoV-2 in Children.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 1, p. 46, doi. 10.1007/s10875-022-01355-w
By:
- Dunay, Gabor A.;
- Barroso, Madalena;
- Woidy, Mathias;
- Danecka, Marta K.;
- Engels, Geraldine;
- Hermann, Katharina;
- Neumann, Friederike S.;
- Paul, Kevin;
- Beime, Jan;
- Escherich, Gabriele;
- Fehse, Kristin;
- Grinstein, Lev;
- Haniel, Franziska;
- Haupt, Luka J.;
- Hecher, Laura;
- Kehl, Torben;
- Kemen, Christoph;
- Kemper, Markus J.;
- Kobbe, Robin;
- Kohl, Aloisa
Publication type:
Article
Correction to: Recurrent Infections in an Ethiopian Boy with Autosomal Recessive Major Histocompatibility Complex Type I Deficiency: a Case Report on a Very Rare Primary Immunodeficiency Disorder and a Review of Principles in Evaluation and Management.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 1, p. 244, doi. 10.1007/s10875-022-01393-4
By:
- Alemayehu, Tinsae;
- Gebeyehu, Netsanet Azene
Publication type:
Article
Recurrent Infections in an Ethiopian Boy with Autosomal Recessive Major Histocompatibility Complex Type I Deficiency: a Case Report on a Very Rare Primary Immunodeficiency Disorder and a Review of Principles in Evaluation and Management.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 1, p. 241, doi. 10.1007/s10875-022-01381-8
By:
- Alemayehu, Tinsae;
- Gebeyehu, Netsanet Azene
Publication type:
Article
Wiskott Aldrich Syndrome-2 Caused by Novel Wiskott Aldrich Syndrome Protein–Interacting Protein (WIP) Deficiency Is Associated with Juvenile Myelomonocytic Leukaemia — a Case Report.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 1, p. 82, doi. 10.1007/s10875-022-01367-6
By:
- Senthil, Srividhya;
- Thrasher, Adrian J.;
- Gilmour, Kimberly C.;
- Wright, Thomas;
- Wynn, Robert F.
Publication type:
Article
Inherited IRAK-4 Deficiency in Acute Human Herpesvirus-6 Encephalitis.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 1, p. 192, doi. 10.1007/s10875-022-01369-4
By:
- Tepe, Zeynep Güneş;
- Yazıcı, Yılmaz Yücehan;
- Tank, Umut;
- Köse, Ladin Işık;
- Özer, Murat;
- Aytekin, Caner;
- Belkaya, Serkan
Publication type:
Article
Novel Germline TET2 Mutations in Two Unrelated Patients with Autoimmune Lymphoproliferative Syndrome-Like Phenotype and Hematologic Malignancy.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 1, p. 165, doi. 10.1007/s10875-022-01361-y
By:
- López-Nevado, Marta;
- Ortiz-Martín, Javier;
- Serrano, Cristina;
- Pérez-Saez, María A.;
- López-Lorenzo, José L.;
- Gil-Etayo, Francisco J.;
- Rodríguez-Frías, Edgar;
- Cabrera-Marante, Oscar;
- Morales-Pérez, Pablo;
- Rodríguez-Pinilla, María S.;
- Manso, Rebeca;
- Salgado-Sánchez, Rocío N.;
- Cerdá-Montagud, Ana;
- Quesada-Espinosa, Juan F.;
- Gómez-Rodríguez, María J.;
- Paz-Artal, Estela;
- Muñoz-Calleja, Cecilia;
- Arranz-Sáez, Reyes;
- Allende, Luis M.
Publication type:
Article
Correction to: Protein‑losing Enteropathy as a Complication and/or Differential Diagnosis of Common Variable Immunodeficiency.
Published in:
2023
By:
- Sanges, Sébastien;
- Germain, Nicolas;
- Vignes, Stéphane;
- Séguy, David;
- Stabler, Sarah;
- Etienne, Nicolas;
- Terriou, Louis;
- Launay, David;
- Hachulla, Éric;
- Huglo, Damien;
- Dubucquoi, Sylvain;
- Labalette, Myriam;
- Lefèvre, Guillaume
Publication type:
Correction Notice
Lymphoma as an Exclusion Criteria for CVID Diagnosis Revisited.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 1, p. 181, doi. 10.1007/s10875-022-01368-5
By:
- Allain, Vincent;
- Grandin, Virginie;
- Meignin, Véronique;
- Bertinchamp, Rémi;
- Boutboul, David;
- Fieschi, Claire;
- Galicier, Lionel;
- Gérard, Laurence;
- Malphettes, Marion;
- Bustamante, Jacinta;
- Fusaro, Mathieu;
- Lambert, Nathalie;
- Rosain, Jérémie;
- Lenoir, Christelle;
- Kracker, Sven;
- Rieux-Laucat, Frédéric;
- Latour, Sylvain;
- de Villartay, Jean-Pierre;
- Picard, Capucine;
- Oksenhendler, Eric
Publication type:
Article
Immune Response to SARS-CoV-2 Infections in Children with Secondary Immunodeficiencies.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 1, p. 57, doi. 10.1007/s10875-022-01365-8
By:
- Kuczborska, Karolina;
- Krzemińska, Ewelina;
- Buda, Piotr;
- Heropolitańska-Pliszka, Edyta;
- Piątosa, Barbara;
- Książyk, Janusz
Publication type:
Article
TRECs/KRECs: Beyond the Diagnosis of Severe Combined Immunodeficiency.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 1, p. 80, doi. 10.1007/s10875-022-01363-w
By:
- Ramos, Barbara Cristina;
- Aranda, Carolina Sanchez;
- Sobrinho, Amanda Oliveira;
- Sole, Dirceu;
- Condino-Neto, Antonio
Publication type:
Article
Severe Disseminated Mycobacterium kansasii Infection due to Autoantibodies Against IFN-ɣ.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 1, p. 76, doi. 10.1007/s10875-022-01362-x
By:
- Pan, Chun;
- Dong, Zhengbang;
- Zhang, Wenyue;
- Wang, Fei;
- Wang, Hongsheng
Publication type:
Article
Mendelian Susceptibility to Mycobacterial Disease: Retrospective Clinical and Genetic Study in Mexico.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 1, p. 123, doi. 10.1007/s10875-022-01357-8
By:
- Peñafiel Vicuña, Ana Karen;
- Yamazaki Nakashimada, Marco;
- León Lara, Ximena;
- Mendieta Flores, Elizabeth;
- Nuñez Núñez, María Enriqueta;
- Lona-Reyes, Juan Carlos;
- Hernández Nieto, Leticia;
- Ramírez Vázquez, María Guadalupe;
- Barroso Santos, Joel;
- López Iñiguez, Álvaro;
- González, Yolanda;
- Torres, Martha;
- Lezana Fernández, José Luis;
- Román Montes, Carla M.;
- Medina-Torres, Edgar Alejandro;
- González Serrano, Edith;
- Bustamante Ogando, Juan Carlos;
- Lugo Reyes, Saúl;
- Zavaleta Martínez, Oscar;
- Staines Boone, Aidé Tamara
Publication type:
Article
Clinically Complex LRBA Deficiency Due to a Founder Allele in the Georgian Jewish Population.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 1, p. 151, doi. 10.1007/s10875-022-01358-7
By:
- Freund, Tal;
- Baxter, Sarah K.;
- Walsh, Tom;
- Golan, Hana;
- Kapelushnik, Joseph;
- Abramsohn-Goldenberg, Michal;
- Benor, Shira;
- Sarid, Nadav;
- Ram, Ron;
- Alcalay, Yifat;
- Segel, Reeval;
- Renbaum, Paul;
- Stepensky, Polina;
- King, Mary-Claire;
- Torgerson, Troy R.;
- Hagin, David
Publication type:
Article
Disseminated BCG Disease in a Patient with Hyper IgE Syndrome due to Dominant-Negative STAT3 Mutation—Case Report.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 1, p. 65, doi. 10.1007/s10875-022-01359-6
By:
- Urdinez, Luciano;
- Goris, Veronica;
- Danielian, Silvia;
- Oleastro, Matias;
- Garrahan Hospital Consortium;
- Perez, Guadalupe;
- Torres, Natalia H.;
- Marti, Jessica Lopez;
- Izaguirre, Maria Jose
Publication type:
Article
Current Transition Practice for Primary Immunodeficiencies and Autoinflammatory Diseases in Europe: a RITA-ERN Survey.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 1, p. 206, doi. 10.1007/s10875-022-01345-y
By:
- Israni, Muskan;
- Nicholson, Bethany;
- Mahlaoui, Nizar;
- Obici, Laura;
- Rossi-Semerano, Linda;
- Lachmann, Helen;
- Hayward, Georgia;
- Avramovič, Mojca Zajc;
- Guffroy, Aurelien;
- Dalm, Virgil;
- Rimmer, Rachel;
- Solis, Leire;
- Villar, Carlotta;
- Gennery, Andrew R.;
- Skeffington, Stephanie;
- Nordin, Julia;
- Warnatz, Klaus;
- Korganow, Anne-Sophie;
- Antón, Jordi;
- Cattalini, Marco
Publication type:
Article
Three Adult Cases of STAT1 Gain-of-Function with Chronic Mucocutaneous Candidiasis Treated with JAK Inhibitors.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 1, p. 136, doi. 10.1007/s10875-022-01351-0
By:
- Borgström, Emilie W.;
- Edvinsson, Marie;
- Pérez, Lucía P.;
- Norlin, Anna C.;
- Enoksson, Sara L.;
- Hansen, Susanne;
- Fasth, Anders;
- Friman, Vanda;
- Kämpe, Olle;
- Månsson, Robert;
- Estupiñán, Hernando Y.;
- Wang, Qing;
- Ziyang, Tan;
- Lakshmikanth, Tadepally;
- Smith, Carl Inge E.;
- Brodin, Petter;
- Bergman, Peter
Publication type:
Article
Clinical and Therapeutic Aspects of Sideroblastic Anaemia with B-Cell Immunodeficiency, Periodic Fever and Developmental Delay (SIFD) Syndrome: a Systematic Review.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 1, p. 1, doi. 10.1007/s10875-022-01343-0
By:
- Maccora, Ilaria;
- Ramanan, Athimalaipet V.;
- Wiseman, Daniel;
- Marrani, Edoardo;
- Mastrolia, Maria V.;
- Simonini, Gabriele
Publication type:
Article
SGPL1 Deficiency: Nephrotic Syndrome with Lymphopenia.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 1, p. 72, doi. 10.1007/s10875-022-01348-9
By:
- Tran, Paulina;
- Jamee, Mahnaz;
- Pournasiri, Zahra;
- Chavoshzadeh, Zahra;
- Sullivan, Kathleen E.
Publication type:
Article
Monitoring of Both Humoral and Cellular Immunities Could Early Predict COVID-19 Vaccine Efficacy Against the Different SARS-CoV2 Variants.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 1, p. 31, doi. 10.1007/s10875-022-01354-x
By:
- Vogrig, Manon;
- Berger, Anne-Emmanuelle;
- Bourlet, Thomas;
- Waeckel, Louis;
- Haccourt, Alice;
- Chanavat, Alice;
- Hupin, David;
- Roche, Frederic;
- Botelho-Nevers, Elisabeth;
- Pozzetto, Bruno;
- Paul, Stéphane
Publication type:
Article
Improvement of Refractory Systemic Juvenile Idiopathic Arthritis-Associated Lung Disease with Single-Agent Blockade of IL-1β and IL-18.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 1, p. 101, doi. 10.1007/s10875-022-01353-y
By:
- Rood, Julia E.;
- Rezk, Ayman;
- Pogoriler, Jennifer;
- Finn, Laura S.;
- Burnham, Jon M.;
- Josephson, Maureen B.;
- Bar-Or, Amit;
- Behrens, Edward M.;
- Canna, Scott W.
Publication type:
Article
A CDC42 Stop-loss Mutation in a Patient with Relapsing Polychondritis and Autoinflammation.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 1, p. 69, doi. 10.1007/s10875-022-01344-z
By:
- van Wijck, Rogier T. A.;
- Swagemakers, Sigrid M. A.;
- van der Spek, Peter J.;
- van Hagen, P. Martin;
- van Daele, Paul L. A.
Publication type:
Article
Inadequate Activation of γδT- and B-cells in Patient with Wiskott-Aldrich Syndrome (WAS) Portrayed by TRG and IGH Repertoire Analyses.
Published in:
Journal of Clinical Immunology, 2023, v. 43, n. 1, p. 109, doi. 10.1007/s10875-022-01349-8
By:
- Palevski, Dahlia;
- Simon, Amos;
- Lev, Atar;
- Somech, Raz;
- Lee, Yu Nee
Publication type:
Article