Hemophagocytic lymphohistiocytosis in an adolescent with NLRP12 ‐related autoinflammatory disorder—A case report
2023; Wiley; Volume: 34; Issue: 9 Linguagem: Inglês
10.1111/pai.14020
ISSN1399-3038
AutoresInês Hormigo, Marta Valente Pinto, Ana Isabel Cordeiro, Cristina Henriques, Catarina Martins, João Parente Freixo, Marta Conde, Catarina Gouveia, João Farela Neves,
Tópico(s)Kawasaki Disease and Coronary Complications
ResumoPediatric Allergy and ImmunologyVolume 34, Issue 9 e14020 CLINICAL LETTER Hemophagocytic lymphohistiocytosis in an adolescent with NLRP12-related autoinflammatory disorder—A case report Inês Hormigo, Corresponding Author Inês Hormigo [email protected] orcid.org/0000-0003-1837-381X Primary Immunodeficiencies Unit, Hospital Dona Estefânia, Centro Hospitalar Universitário Lisboa Central EPE, Lisbon, Portugal Correspondence Inês Hormigo, Primary Immunodeficiencies Unit, Hospital Dona Estefânia, Centro Hospitalar Universitário Lisboa Central EPE, Lisbon, Portugal. Email: [email protected] Contribution: Conceptualization, Methodology, Writing - original draft, Investigation, ResourcesSearch for more papers by this authorMarta Valente Pinto, Marta Valente Pinto Primary Immunodeficiencies Unit, Hospital Dona Estefânia, Centro Hospitalar Universitário Lisboa Central EPE, Lisbon, Portugal Centro de investigação Interdisciplinar Egas Moniz (CiiEM), Instituto Universitário Egas Moniz, Caparica, Portugal Contribution: Software, Methodology, Writing - review & editing, Supervision, Investigation, Project administration, ValidationSearch for more papers by this authorAna Isabel Cordeiro, Ana Isabel Cordeiro Primary Immunodeficiencies Unit, Hospital Dona Estefânia, Centro Hospitalar Universitário Lisboa Central EPE, Lisbon, Portugal Contribution: Writing - review & editing, VisualizationSearch for more papers by this authorCristina Henriques, Cristina Henriques Pediatric Reumatology Unit, Hospital Dona Estefânia, Centro Hospitalar Universitário Lisboa Central EPE, Lisbon, Portugal Contribution: Visualization, Writing - review & editing, Data curation, InvestigationSearch for more papers by this authorCatarina Martins, Catarina Martins NOVA Medical School, Faculdade de Ciências Médicas, NMS, FCM, Universidade NOVA de Lisboa, Lisbon, Portugal CHRC, NOVA Medical School, Faculdade de Ciências Médicas, NMS, FCM, Universidade NOVA de Lisboa, Lisbon, Portugal Immunology Department, NOVA Medical School, Faculdade de Ciências Médicas, NMS, FCM, Universidade NOVA de Lisboa, Lisbon, Portugal Contribution: Visualization, Writing - review & editingSearch for more papers by this authorJoão Parente Freixo, João Parente Freixo Centro de Genética Preditiva e preventiva, Instituto de Biologia Molecular e Celular, Instituto de Investigação e Inovação em Saúde, Porto, Portugal Contribution: Visualization, Writing - review & editingSearch for more papers by this authorMarta Conde, Marta Conde Pediatric Reumatology Unit, Hospital Dona Estefânia, Centro Hospitalar Universitário Lisboa Central EPE, Lisbon, Portugal Auto-inflammatory syndromes Clinics, Hospital Dona Estefânia, Centro Hospitalar Universitário Lisboa Central EPE, Lisbon, Portugal Contribution: Visualization, Writing - review & editingSearch for more papers by this authorCatarina Gouveia, Catarina Gouveia Pediatric Infectious Diseases Unit, Hospital Dona Estefânia, Centro Hospitalar Universitário Lisboa Central EPE, Lisbon, Portugal Contribution: Visualization, Writing - review & editingSearch for more papers by this authorJoão Farela Neves, João Farela Neves Primary Immunodeficiencies Unit, Hospital Dona Estefânia, Centro Hospitalar Universitário Lisboa Central EPE, Lisbon, Portugal NOVA Medical School, Faculdade de Ciências Médicas, NMS, FCM, Universidade NOVA de Lisboa, Lisbon, Portugal CHRC, NOVA Medical School, Faculdade de Ciências Médicas, NMS, FCM, Universidade NOVA de Lisboa, Lisbon, Portugal Auto-inflammatory syndromes Clinics, Hospital Dona Estefânia, Centro Hospitalar Universitário Lisboa Central EPE, Lisbon, Portugal Contribution: Visualization, Writing - review & editing, Investigation, Project administration, Supervision, ValidationSearch for more papers by this author Inês Hormigo, Corresponding Author Inês Hormigo [email protected] orcid.org/0000-0003-1837-381X Primary Immunodeficiencies Unit, Hospital Dona Estefânia, Centro Hospitalar Universitário Lisboa Central EPE, Lisbon, Portugal Correspondence Inês Hormigo, Primary Immunodeficiencies Unit, Hospital Dona Estefânia, Centro Hospitalar Universitário Lisboa Central EPE, Lisbon, Portugal. Email: [email protected] Contribution: Conceptualization, Methodology, Writing - original draft, Investigation, ResourcesSearch for more papers by this authorMarta Valente Pinto, Marta Valente Pinto Primary Immunodeficiencies Unit, Hospital Dona Estefânia, Centro Hospitalar Universitário Lisboa Central EPE, Lisbon, Portugal Centro de investigação Interdisciplinar Egas Moniz (CiiEM), Instituto Universitário Egas Moniz, Caparica, Portugal Contribution: Software, Methodology, Writing - review & editing, Supervision, Investigation, Project administration, ValidationSearch for more papers by this authorAna Isabel Cordeiro, Ana Isabel Cordeiro Primary Immunodeficiencies Unit, Hospital Dona Estefânia, Centro Hospitalar Universitário Lisboa Central EPE, Lisbon, Portugal Contribution: Writing - review & editing, VisualizationSearch for more papers by this authorCristina Henriques, Cristina Henriques Pediatric Reumatology Unit, Hospital Dona Estefânia, Centro Hospitalar Universitário Lisboa Central EPE, Lisbon, Portugal Contribution: Visualization, Writing - review & editing, Data curation, InvestigationSearch for more papers by this authorCatarina Martins, Catarina Martins NOVA Medical School, Faculdade de Ciências Médicas, NMS, FCM, Universidade NOVA de Lisboa, Lisbon, Portugal CHRC, NOVA Medical School, Faculdade de Ciências Médicas, NMS, FCM, Universidade NOVA de Lisboa, Lisbon, Portugal Immunology Department, NOVA Medical School, Faculdade de Ciências Médicas, NMS, FCM, Universidade NOVA de Lisboa, Lisbon, Portugal Contribution: Visualization, Writing - review & editingSearch for more papers by this authorJoão Parente Freixo, João Parente Freixo Centro de Genética Preditiva e preventiva, Instituto de Biologia Molecular e Celular, Instituto de Investigação e Inovação em Saúde, Porto, Portugal Contribution: Visualization, Writing - review & editingSearch for more papers by this authorMarta Conde, Marta Conde Pediatric Reumatology Unit, Hospital Dona Estefânia, Centro Hospitalar Universitário Lisboa Central EPE, Lisbon, Portugal Auto-inflammatory syndromes Clinics, Hospital Dona Estefânia, Centro Hospitalar Universitário Lisboa Central EPE, Lisbon, Portugal Contribution: Visualization, Writing - review & editingSearch for more papers by this authorCatarina Gouveia, Catarina Gouveia Pediatric Infectious Diseases Unit, Hospital Dona Estefânia, Centro Hospitalar Universitário Lisboa Central EPE, Lisbon, Portugal Contribution: Visualization, Writing - review & editingSearch for more papers by this authorJoão Farela Neves, João Farela Neves Primary Immunodeficiencies Unit, Hospital Dona Estefânia, Centro Hospitalar Universitário Lisboa Central EPE, Lisbon, Portugal NOVA Medical School, Faculdade de Ciências Médicas, NMS, FCM, Universidade NOVA de Lisboa, Lisbon, Portugal CHRC, NOVA Medical School, Faculdade de Ciências Médicas, NMS, FCM, Universidade NOVA de Lisboa, Lisbon, Portugal Auto-inflammatory syndromes Clinics, Hospital Dona Estefânia, Centro Hospitalar Universitário Lisboa Central EPE, Lisbon, Portugal Contribution: Visualization, Writing - review & editing, Investigation, Project administration, Supervision, ValidationSearch for more papers by this author First published: 19 September 2023 https://doi.org/10.1111/pai.14020 Editor: Fabio Candotti Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat Open Research PEER REVIEW The peer review history for this article is available at https://www.webofscience.com/api/gateway/wos/peer-review/10.1111/pai.14020. REFERENCES 1Krainer J, Siebenhandl S, Weinhäusel A. Systemic autoinflammatory diseases. J Autoimmun. 2020; 109:102421. doi:10.1016/j.jaut.2020.102421 10.1016/j.jaut.2020.102421 CASPubMedWeb of Science®Google Scholar 2Tuladhar S, Kanneganti T. NLRP12 in innate immunity and inflammation. Mol Asp Med. 2020; 76:100887. doi:10.1016/j.mam.2020.100887 10.1016/j.mam.2020.100887 CASPubMedWeb of Science®Google Scholar 3Wang H. NLRP12-associated systemic autoinflammatory diseases in children. Pediatr Rheumatol Online J. 2022; 20: 9. doi:10.1186/s12969-022-00669-8 10.1186/s12969-022-00669-8 CASPubMedWeb of Science®Google Scholar 4Henter JI, Horne A, Arico M, et al. HLH-2004: diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. 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