127 related articles for article (PubMed ID: 38747707)
1. Atypical familial hemophagocytic lymphohistiocytosis type 3 in children: A report of cases and literature review.
Zhao Q; Zhao Q; Tang X; An Y; Zhang Z; Tomomasa D; Hijikata A; Yang X; Kanegane H; Zhao X
Pediatr Allergy Immunol; 2024 May; 35(5):e14136. PubMed ID: 38747707
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. Human CTL-based functional analysis shows the reliability of a munc13-4 protein expression assay for FHL3 diagnosis.
Shibata H; Yasumi T; Shimodera S; Hiejima E; Izawa K; Kawai T; Shirakawa R; Wada T; Nishikomori R; Horiuchi H; Ohara O; Ishii E; Heike T
Blood; 2018 May; 131(18):2016-2025. PubMed ID: 29549174
[TBL] [Abstract][Full Text] [Related]
5. The 253-kb inversion and deep intronic mutations in UNC13D are present in North American patients with familial hemophagocytic lymphohistiocytosis 3.
Qian Y; Johnson JA; Connor JA; Valencia CA; Barasa N; Schubert J; Husami A; Kissell D; Zhang G; Weirauch MT; Filipovich AH; Zhang K
Pediatr Blood Cancer; 2014 Jun; 61(6):1034-40. PubMed ID: 24470399
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. Novel and atypical splicing mutation in a compound heterozygous UNC13D defect presenting in Familial Hemophagocytic Lymphohistiocytosis triggered by EBV infection.
Alsina L; Colobran R; de Sevilla MF; Català A; Viñas L; Ricart S; Plaza AM; Lois S; Juan M; Pujol-Borrell R; Martinez-Gallo M
Clin Immunol; 2014 Aug; 153(2):292-7. PubMed ID: 24825797
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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]
11. 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]
12. Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D.
Meeths M; Chiang SC; Wood SM; Entesarian M; Schlums H; Bang B; Nordenskjöld E; Björklund C; Jakovljevic G; Jazbec J; Hasle H; Holmqvist BM; Rajic L; Pfeifer S; Rosthøj S; Sabel M; Salmi TT; Stokland T; Winiarski J; Ljunggren HG; Fadeel B; Nordenskjöld M; Henter JI; Bryceson YT
Blood; 2011 Nov; 118(22):5783-93. PubMed ID: 21931115
[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. Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lymphohistiocytosis type 3.
Santoro A; Cannella S; Trizzino A; Bruno G; De Fusco C; Notarangelo LD; Pende D; Griffiths GM; Aricò M
Haematologica; 2008 Jul; 93(7):1086-90. PubMed ID: 18492689
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. Clinical and Genetic Analysis of Nine Suspected Familial Haemophagocytic Lymphohistiocytosis Patients for MUNC13-4 Deficiency and Introducing Four Novel Mutations in UNC13D.
Vahidi M; Badalzadeh M; Jannesar M; Mazinani M; Fazlollahi MR; Khodayari Namini N; Houshmand M; Hamidieh AA; Moradi L; Pourpak Z; Moin M
Iran J Allergy Asthma Immunol; 2019 Oct; 18(5):487-492. PubMed ID: 32245292
[TBL] [Abstract][Full Text] [Related]
17. Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3.
Sieni E; Cetica V; Santoro A; Beutel K; Mastrodicasa E; Meeths M; Ciambotti B; Brugnolo F; zur Stadt U; Pende D; Moretta L; Griffiths GM; Henter JI; Janka G; Aricò M
J Med Genet; 2011 May; 48(5):343-52. PubMed ID: 21248318
[TBL] [Abstract][Full Text] [Related]
18. Gene editing of hematopoietic stem cells restores T-cell response in familial hemophagocytic lymphohistiocytosis.
Dettmer-Monaco V; Weißert K; Ammann S; Monaco G; Lei L; Gräßel L; Rhiel M; Rositzka J; Kaufmann MM; Geiger K; Andrieux G; Lao J; Thoulass G; Schell C; Boerries M; Illert AL; Cornu TI; Ehl S; Aichele P; Cathomen T
J Allergy Clin Immunol; 2024 Jan; 153(1):243-255.e14. PubMed ID: 37595758
[TBL] [Abstract][Full Text] [Related]
19. Genetic variant spectrum in 265 Chinese patients with hemophagocytic lymphohistiocytosis: Molecular analyses of PRF1, UNC13D, STX11, STXBP2, SH2D1A, and XIAP.
Chen X; Wang F; Zhang Y; Teng W; Wang M; Nie D; Zhou X; Wang D; Zhao H; Zhu P; Liu H
Clin Genet; 2018 Aug; 94(2):200-212. PubMed ID: 29665027
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]