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First case of very late-onset FHL2 in Spain with two variants in the PRF1 gene.
Sienes Bailo P, Goñi Ros N, Menéndez Jándula B, Álvarez Alegret R, González Gómez E, González Tarancón R, Izquierdo Álvarez S. Sienes Bailo P, et al. Ann Clin Biochem. 2023 Sep;60(5):356-364. doi: 10.1177/00045632231186076. Epub 2023 Jun 26. Ann Clin Biochem. 2023. PMID: 37365821
HLH has been classified into two types: a primary or familial autosomal recessive form, caused by mutations in genes encoding proteins involved in the granule-dependent cytotoxic pathway (familial hemophagocytic lymphohistiocytosis [FHL] types 1-5); and other secondary or acquire …
HLH has been classified into two types: a primary or familial autosomal recessive form, caused by mutations in genes encoding proteins invol …
Disturbances in NK Cells in Various Types of Hemophagocytic Lymphohistiocytosis in a Population of Polish Children.
Popko K, Górska E, Wołowiec M, Malinowska I. Popko K, et al. J Pediatr Hematol Oncol. 2019 Jul;41(5):e277-e283. doi: 10.1097/MPH.0000000000001514. J Pediatr Hematol Oncol. 2019. PMID: 31107368
HLH patients were divided into 6 HLH types: 9% infection-related HLH; 7% malignancy-related HLH; 21% macrophage activating syndrome; 12% familial hemophagocytic lymphohistiocytosis; 2% X-linked lymphoproliferative syndrome; and 49% as HLH of unknown ba …
HLH patients were divided into 6 HLH types: 9% infection-related HLH; 7% malignancy-related HLH; 21% macrophage activating syndrome; 12% …
Case Report: Chronic inflammatory demyelinating polyradiculoneuropathy rather than hemophagocytic lymphohistiocytosis-the initial phenotype of PRF1 gene mutation.
Hu LY, Wan L, Wang QH, Shi XY, Meng Y, Yang XF, Yang G, Zou LP. Hu LY, et al. Front Immunol. 2023 Dec 11;14:1306338. doi: 10.3389/fimmu.2023.1306338. eCollection 2023. Front Immunol. 2023. PMID: 38149249 Free PMC article.
Monoallelic PRF1 mutation increases the risk of autoimmune diseases, and biallelic PRF1 mutation causes familial hemophagocytic lymphohistiocytosis-2. Here, we report a case of a 12-year-old girl with chronic inflammatory demyelinating polyradiculoneur …
Monoallelic PRF1 mutation increases the risk of autoimmune diseases, and biallelic PRF1 mutation causes familial hemophagocytic …