These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
5. Late-onset cases of familial hemophagocytic lymphohistiocytosis with missense perforin gene mutations. Ueda I; Kurokawa Y; Koike K; Ito S; Sakata A; Matsumora T; Fukushima T; Morimoto A; Ishii E; Imashuku S Am J Hematol; 2007 Jun; 82(6):427-32. PubMed ID: 17266056 [TBL] [Abstract][Full Text] [Related]
6. [Expression of porforin and granzyme B in familial hemophagocytic lymphohistiocytosis]. Zhou XH; Luo JM; Bin Q; Huang XH Zhonghua Xue Ye Xue Za Zhi; 2016 Mar; 37(3):227-32. PubMed ID: 27033761 [TBL] [Abstract][Full Text] [Related]
8. Genetic predisposition to hemophagocytic lymphohistiocytosis: Report on 500 patients from the Italian registry. Cetica V; Sieni E; Pende D; Danesino C; De Fusco C; Locatelli F; Micalizzi C; Putti MC; Biondi A; Fagioli F; Moretta L; Griffiths GM; Luzzatto L; Aricò M J Allergy Clin Immunol; 2016 Jan; 137(1):188-196.e4. PubMed ID: 26342526 [TBL] [Abstract][Full Text] [Related]
9. Down-regulation of CD5 expression on activated CD8+ T cells in familial hemophagocytic lymphohistiocytosis with perforin gene mutations. Wada T; Sakakibara Y; Nishimura R; Toma T; Ueno Y; Horita S; Tanaka T; Nishi M; Kato K; Yasumi T; Ohara O; Yachie A Hum Immunol; 2013 Dec; 74(12):1579-85. PubMed ID: 24051121 [TBL] [Abstract][Full Text] [Related]
10. 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 Ann Clin Biochem; 2023 Sep; 60(5):356-364. PubMed ID: 37365821 [TBL] [Abstract][Full Text] [Related]
11. Genetic subtypes of familial hemophagocytic lymphohistiocytosis: correlations with clinical features and cytotoxic T lymphocyte/natural killer cell functions. Ishii E; Ueda I; Shirakawa R; Yamamoto K; Horiuchi H; Ohga S; Furuno K; Morimoto A; Imayoshi M; Ogata Y; Zaitsu M; Sako M; Koike K; Sakata A; Takada H; Hara T; Imashuku S; Sasazuki T; Yasukawa M Blood; 2005 May; 105(9):3442-8. PubMed ID: 15632205 [TBL] [Abstract][Full Text] [Related]
12. A novel pathogenic variant in PRF1 associated with hemophagocytic lymphohistiocytosis. Romero CA; Sánchez IP; Gutierrez-Hincapié S; Álvarez-Álvarez JA; Pereañez JA; Ochoa R; Muskus-López CE; Eraso RG; Echeverry C; Arango C; Restrepo JL; Trujillo-Vargas CM J Clin Immunol; 2015 Jul; 35(5):501-11. PubMed ID: 25975970 [TBL] [Abstract][Full Text] [Related]
13. Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations. Trizzino A; zur Stadt U; Ueda I; Risma K; Janka G; Ishii E; Beutel K; Sumegi J; Cannella S; Pende D; Mian A; Henter JI; Griffiths G; Santoro A; Filipovich A; Aricò M; J Med Genet; 2008 Jan; 45(1):15-21. PubMed ID: 17873118 [TBL] [Abstract][Full Text] [Related]
14. A case report of novel mutation in PRF1 gene, which causes familial autosomal recessive hemophagocytic lymphohistiocytosis. Bordbar MR; Modarresi F; Farazi Fard MA; Dastsooz H; Shakib Azad N; Faghihi MA BMC Med Genet; 2017 May; 18(1):49. PubMed ID: 28468610 [TBL] [Abstract][Full Text] [Related]
15. Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis. Rudd E; Bryceson YT; Zheng C; Edner J; Wood SM; Ramme K; Gavhed S; Gürgey A; Hellebostad M; Bechensteen AG; Ljunggren HG; Fadeel B; Nordenskjöld M; Henter JI J Med Genet; 2008 Mar; 45(3):134-41. PubMed ID: 17993578 [TBL] [Abstract][Full Text] [Related]
16. UNC13D is the predominant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosis. Yoon HS; Kim HJ; Yoo KH; Sung KW; Koo HH; Kang HJ; Shin HY; Ahn HS; Kim JY; Lim YT; Bae KW; Lee KO; Shin JS; Lee ST; Chung HS; Kim SH; Park CJ; Chi HS; Im HJ; Seo JJ Haematologica; 2010 Apr; 95(4):622-6. PubMed ID: 20015888 [TBL] [Abstract][Full Text] [Related]
17. Clinico-laboratory profile and perforin gene mutations of pediatric hemophagocytic lymphohistiocytosis cases: a five-year single center study. Almalky MA; Saleh SHA; Baz EG; Fakhr AE Pan Afr Med J; 2020; 36():354. PubMed ID: 33224420 [TBL] [Abstract][Full Text] [Related]
18. Rare cause of Hemophagocytic Lymphohistiocytosis due to mutation in PRF1 and SH2D1A genes in two children - a case report with a review. Sheth J; Patel A; Shah R; Bhavsar R; Trivedi S; Sheth F BMC Pediatr; 2019 Mar; 19(1):73. PubMed ID: 30849948 [TBL] [Abstract][Full Text] [Related]