216 related articles for article (PubMed ID: 32658436)
1. Familial Hemophagocytic Lymphohistiocytosis Type 2 in a Chinese Infant with PRF1 Homozygous Mutation: a Case Report.
Ji Q; Wang G; Xu W
Clin Lab; 2020 Jul; 66(7):. PubMed ID: 32658436
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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]
6. Hemophagocytic lymphohistiocytosis with a hemizygous PRF1 c.674G>A mutation.
Xin X; Wang N; Zhang Y
Am J Med Sci; 2023 Nov; 366(5):387-394. PubMed ID: 37467895
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. [Analysis of clinical phenotype and genetic mutations of a pedigree of familial hemophagocytic lymphohistiocytosis].
Sun S; Guo X; Zhu Y; Yang X; Li Q; Gao J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Oct; 31(5):570-3. PubMed ID: 25297583
[TBL] [Abstract][Full Text] [Related]
9. Remission and relapse of hemophagocytic lymphohistiocytosis in a patient harboring a PRF1 homozygous mutation: a case report.
Huang Z; Wang Y; Xie Z; Shen K
J Pediatr Hematol Oncol; 2014 Jan; 36(1):e5-8. PubMed ID: 23073044
[TBL] [Abstract][Full Text] [Related]
10. 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
Front Immunol; 2023; 14():1306338. PubMed ID: 38149249
[TBL] [Abstract][Full Text] [Related]
11. [Perforin gene mutation in middle-age onset hemophagocytic lymphohistiocytosis].
Kishimoto W; Fujita K; Shimazu Y; Hamada T; Miyamoto T; Yasumi T; Hishizawa M; Moriguchi T
Rinsho Ketsueki; 2022; 63(12):1633-1638. PubMed ID: 36653135
[TBL] [Abstract][Full Text] [Related]
12. Hemophagocytic lymphohistiocytosis: when the immune system runs amok.
Janka G
Klin Padiatr; 2009 Sep; 221(5):278-85. PubMed ID: 19707989
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Screening the PRF1, UNC13D, STX11, SH2D1A, XIAP, and ITK gene mutations in Chinese children with Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis.
Zhizhuo H; Junmei X; Yuelin S; Qiang Q; Chunyan L; Zhengde X; Kunling S
Pediatr Blood Cancer; 2012 Mar; 58(3):410-4. PubMed ID: 21674762
[TBL] [Abstract][Full Text] [Related]
15. Mutations in the perforin gene in children with hemophagocytic lymphohistiocytosis.
Lu G; Xie ZD; Shen KL; Ye LJ; Wu RH; Liu CY; Jin YK; Yang S
Chin Med J (Engl); 2009 Dec; 122(23):2851-5. PubMed ID: 20092789
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. [Research advances in molecular genetics and treatment of familial hemophagocytic lymphohistiocytosis].
Lv XQ; Hu J
Zhongguo Dang Dai Er Ke Za Zhi; 2013 Nov; 15(11):965-9. PubMed ID: 24229589
[TBL] [Abstract][Full Text] [Related]
18. Search for the potential "second-hit" mechanism underlying the onset of familial hemophagocytic lymphohistiocytosis type 2 by whole-exome sequencing analysis.
Gao L; Dang X; Huang L; Zhu L; Fang M; Zhang J; Xu X; Zhu L; Li T; Zhao L; Wei J; Zhou J
Transl Res; 2016 Apr; 170():26-39. PubMed ID: 26739415
[TBL] [Abstract][Full Text] [Related]
19. Perforin gene mutation in familial haemophagocytic lymphohistiocytosis: the first reported case from Hong Kong.
Chiang GP; Li CK; Lee V; Cheng FW; Leung AW; Imashuku S; Imamura T; Shing MM
Hong Kong Med J; 2014 Aug; 20(4):339-42. PubMed ID: 25104007
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]