Heterozygous gain‐of‐function mutations in human STAT1 : A case of hemophagocytic lymphohistiocytosis due to chronic mucocutaneous candidiasis in a 17‐month‐old male
2023; Wiley; Volume: 70; Issue: 6 Linguagem: Inglês
10.1002/pbc.30284
ISSN1545-5017
AutoresPeisen Ruan, Yizhi Zhang, Haier Chen, Hehe Chen, Zhuoya Dong,
Tópico(s)Immune Cell Function and Interaction
ResumoPediatric Blood & CancerVolume 70, Issue 6 e30284 LETTER TO THE EDITOR Heterozygous gain-of-function mutations in human STAT1: A case of hemophagocytic lymphohistiocytosis due to chronic mucocutaneous candidiasis in a 17-month-old male Peisen Ruan, Peisen Ruan Department of Pediatrics, Ningbo Women and Children's Hospital, Ningbo, Zhejiang, ChinaSearch for more papers by this authorYizhi Zhang, Yizhi Zhang Department of Microbiology, Ningbo Women and Children's Hospital, Ningbo, Zhejiang, ChinaSearch for more papers by this authorHaier Chen, Haier Chen Department of Hematology, Ningbo Women and Children's Hospital, Ningbo, Zhejiang, ChinaSearch for more papers by this authorHehe Chen, Hehe Chen Department of Pediatrics, Ningbo Women and Children's Hospital, Ningbo, Zhejiang, ChinaSearch for more papers by this authorZhuoya Dong, Corresponding Author Zhuoya Dong [email protected] orcid.org/0000-0001-5642-7132 Department of Pediatrics, Ningbo Women and Children's Hospital, Ningbo, Zhejiang, China Correspondence Zhuoya Dong, Department of Pediatrics, Ningbo Women and Children's Hospital, Ningbo, Zhejiang, China. Email: [email protected]Search for more papers by this author Peisen Ruan, Peisen Ruan Department of Pediatrics, Ningbo Women and Children's Hospital, Ningbo, Zhejiang, ChinaSearch for more papers by this authorYizhi Zhang, Yizhi Zhang Department of Microbiology, Ningbo Women and Children's Hospital, Ningbo, Zhejiang, ChinaSearch for more papers by this authorHaier Chen, Haier Chen Department of Hematology, Ningbo Women and Children's Hospital, Ningbo, Zhejiang, ChinaSearch for more papers by this authorHehe Chen, Hehe Chen Department of Pediatrics, Ningbo Women and Children's Hospital, Ningbo, Zhejiang, ChinaSearch for more papers by this authorZhuoya Dong, Corresponding Author Zhuoya Dong [email protected] orcid.org/0000-0001-5642-7132 Department of Pediatrics, Ningbo Women and Children's Hospital, Ningbo, Zhejiang, China Correspondence Zhuoya Dong, Department of Pediatrics, Ningbo Women and Children's Hospital, Ningbo, Zhejiang, China. Email: [email protected]Search for more papers by this author First published: 07 March 2023 https://doi.org/10.1002/pbc.30284Read 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 No abstract is available for this article. REFERENCES 1Henter JI, Horne A, Aricó M, et al. HLH-2004: diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer. 2007; 48(2): 124- 131. 2Henter JI, Aricò M, Egeler RM, et al. HLH-94: a treatment protocol for hemophagocytic lymphohistiocytosis. HLH study Group of the Histiocyte Society. Med Pediatr Oncol. 1997; 28(5): 342- 347. 3Pappas PG, Kauffman CA, Andes DR, et al. Clinical practice guideline for the management of candidiasis: 2016 update by the Infectious Diseases Society of America. Clin Infect Dis. 2016; 62(4): e1- e50. 4Toubiana J, Okada S, Hiller J, et al. Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype. Blood. 2016; 127(25): 3154- 3164. 5Okada S, Asano T, Moriya K, et al. Human STAT1 gain-of-function heterozygous mutations: chronic mucocutaneous candidiasis and type i interferonopathy. J Clin Immunol. 2020; 40(8): 1065- 1081. 6Wang X, Zhao W, Chen F, Zhou P, Yan Z. Chinese pedigree of chronic mucocutaneous candidiasis due to STAT1 gain-of-function mutation: a case study and literature review. Mycopathologia. 2022. https://doi.org/10.1007/s11046-022-00685-y 7Jordan MB, Allen CE, Greenberg J, et al. Challenges in the diagnosis of hemophagocytic lymphohistiocytosis: recommendations from the North American Consortium for Histiocytosis (NACHO). Pediatr Blood Cancer. 2019; 66(11):e27929. 8Canna SW, Marsh RA. Pediatric hemophagocytic lymphohistiocytosis. Blood. 2020; 135(16): 1332- 1343. 9Ramos-Casals M, Brito-Zerón P, López-Guillermo A, Khamashta MA, Bosch X. Adult haemophagocytic syndrome. Lancet. 2014; 383(9927): 1503- 1516. Volume70, Issue6June 2023e30284 ReferencesRelatedInformation
Referência(s)