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2. Subtypes of familial hemophagocytic lymphohistiocytosis in Japan based on genetic and functional analyses of cytotoxic T lymphocytes. Nagai K; Yamamoto K; Fujiwara H; An J; Ochi T; Suemori K; Yasumi T; Tauchi H; Koh K; Sato M; Morimoto A; Heike T; Ishii E; Yasukawa M PLoS One; 2010 Nov; 5(11):e14173. PubMed ID: 21152410 [TBL] [Abstract][Full Text] [Related]
3. Lentiviral Gene Therapy for Familial Hemophagocytic Lymphohistiocytosis Type 3, Caused by Takushi SE; Paik NY; Fedanov A; Prince C; Doering CB; Spencer HT; Chandrakasan S Hum Gene Ther; 2020 Jun; 31(11-12):626-638. PubMed ID: 32253931 [TBL] [Abstract][Full Text] [Related]
4. Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases. Rohr J; Beutel K; Maul-Pavicic A; Vraetz T; Thiel J; Warnatz K; Bondzio I; Gross-Wieltsch U; Schündeln M; Schütz B; Woessmann W; Groll AH; Strahm B; Pagel J; Speckmann C; Janka G; Griffiths G; Schwarz K; zur Stadt U; Ehl S Haematologica; 2010 Dec; 95(12):2080-7. PubMed ID: 20823128 [TBL] [Abstract][Full Text] [Related]
5. Characterization of a large UNC13D gene duplication in a patient with familial hemophagocytic lymphohistiocytosis type 3. Hiejima E; Shibata H; Yasumi T; Shimodera S; Hori M; Izawa K; Kawai T; Matsuoka M; Kojima Y; Ohara A; Nishikomori R; Ohara O; Heike T Clin Immunol; 2018 Jun; 191():63-66. PubMed ID: 29596912 [TBL] [Abstract][Full Text] [Related]
11. A CD57 Hori M; Yasumi T; Shimodera S; Shibata H; Hiejima E; Oda H; Izawa K; Kawai T; Ishimura M; Nakano N; Shirakawa R; Nishikomori R; Takada H; Morita S; Horiuchi H; Ohara O; Ishii E; Heike T J Clin Immunol; 2017 Jan; 37(1):92-99. PubMed ID: 27896523 [TBL] [Abstract][Full Text] [Related]
12. Hemophagocytic lymphohistiocytosis in syntaxin-11-deficient mice: T-cell exhaustion limits fatal disease. Kögl T; Müller J; Jessen B; Schmitt-Graeff A; Janka G; Ehl S; zur Stadt U; Aichele P Blood; 2013 Jan; 121(4):604-13. PubMed ID: 23190531 [TBL] [Abstract][Full Text] [Related]
13. Detection of a novel gross deletion in the UNC13D gene ends the diagnostic odyssey for a family with familial hemophagocytic lymphohistiocytosis 3. Nagaraj CB; Brightman DS; Rea H; Wakefield E; Harkavy NVG; Dyer L; Zhang W BMC Pediatr; 2024 Jan; 24(1):34. PubMed ID: 38212754 [TBL] [Abstract][Full Text] [Related]
14. Precise CRISPR-Cas9 gene repair in autologous memory T cells to treat familial hemophagocytic lymphohistiocytosis. Li X; Wirtz T; Weber T; Lebedin M; Lowenstein ED; Sommermann T; Zach A; Yasuda T; de la Rosa K; Chu VT; Schulte JH; Müller I; Kocks C; Rajewsky K Sci Immunol; 2024 Feb; 9(92):eadi0042. PubMed ID: 38306418 [TBL] [Abstract][Full Text] [Related]
15. Transcriptional regulation of Munc13-4 expression in cytotoxic lymphocytes is disrupted by an intronic mutation associated with a primary immunodeficiency. Cichocki F; Schlums H; Li H; Stache V; Holmes T; Lenvik TR; Chiang SC; Miller JS; Meeths M; Anderson SK; Bryceson YT J Exp Med; 2014 Jun; 211(6):1079-91. PubMed ID: 24842371 [TBL] [Abstract][Full Text] [Related]
16. Clinical, immunological and genetic findings in patients with UNC13D deficiency (FHL3): A systematic review. Amirifar P; Ranjouri MR; Abolhassani H; Moeini Shad T; Almasi-Hashiani A; Azizi G; Moamer S; Aghamohammadi A; Yazdani R Pediatr Allergy Immunol; 2021 Jan; 32(1):186-197. PubMed ID: 32679608 [TBL] [Abstract][Full Text] [Related]
17. 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]
18. Familial Hemophagocytic Lymphohistiocytosis secondary to UNC13D mutation: a report of two cases. Sadeghi P; Esslami GG; Rokni-Zadeh H; Changi-Ashtiani M; Mohsenipour R BMC Pediatr; 2022 Nov; 22(1):667. PubMed ID: 36401200 [TBL] [Abstract][Full Text] [Related]
19. A novel Dutch mutation in UNC13D reveals an essential role of the C2B domain in munc13-4 function. Elstak ED; te Loo M; Tesselaar K; van Kerkhof P; Loeffen J; Grivas D; Hennekam E; Boelens JJ; Hoogerbrugge PM; van der Sluijs P; van Gijn ME; van de Corput L Pediatr Blood Cancer; 2012 Apr; 58(4):598-605. PubMed ID: 21755595 [TBL] [Abstract][Full Text] [Related]
20. Founder effects in two predominant intronic mutations of UNC13D, c.118-308C>T and c.754-1G>C underlie the unusual predominance of type 3 familial hemophagocytic lymphohistiocytosis (FHL3) in Korea. Seo JY; Song JS; Lee KO; Won HH; Kim JW; Kim SH; Lee SH; Yoo KH; Sung KW; Koo HH; Kang HJ; Shin HY; Ahn HS; Han DK; Kook H; Hwang TJ; Lyu CJ; Lee MJ; Kim JY; Park SS; Lim YT; Kim BE; Koh KN; Im HJ; Seo JJ; Kim HJ; Ann Hematol; 2013 Mar; 92(3):357-64. PubMed ID: 23180437 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]