157 related articles for article (PubMed ID: 33256384)
1. Perforin gene variant A91V in young patients with severe COVID-19.
Cabrera-Marante O; Rodríguez de Frías E; Pleguezuelo DE; Allende LM; Serrano A; Laguna-Goya R; Mancebo ME; Talayero P; Álvarez-Vallina L; Morales P; Castro-Panete MJ; Paz-Artal E
Haematologica; 2020 Dec; 105(12):2844-2846. PubMed ID: 33256384
[No Abstract] [Full Text] [Related]
2. Neuromyelitis optica, atypical hemophagocytic lymphohistiocytosis and heterozygous perforin A91V mutation.
Palterer B; Brugnolo F; Sieni E; Barilaro A; Parronchi P
J Neuroimmunol; 2017 Oct; 311():10-13. PubMed ID: 28863861
[TBL] [Abstract][Full Text] [Related]
3. Recovery of natural killer cell cytotoxicity in a p.A91V perforin homozygous patient following severe haemophagocytic lymphohistiocytosis.
Jang HS; Flinsenberg TWH; Lacaze P; Thia KYT; Noori T; Fernando SL; Kerridge I; Riaz M; McNeil JJ; Blombery PA; Trapani JA; Voskoboinik I
Br J Haematol; 2020 Aug; 190(3):458-461. PubMed ID: 32342501
[No Abstract] [Full Text] [Related]
4. Pillars article: Perforin gene defects in familial hemophagocytic lymphohistiocytosis. Science. 1999. 286: 1957-1959.
Stepp SE; Dufourcq-Lagelouse R; Kumar V
J Immunol; 2015 Jun; 194(11):5044-6. PubMed ID: 25980028
[No Abstract] [Full Text] [Related]
5. Functional impact of A91V mutation of the PRF1 perforin gene.
Martínez-Pomar N; Lanio N; Romo N; Lopez-Botet M; Matamoros N
Hum Immunol; 2013 Jan; 74(1):14-7. PubMed ID: 23073290
[TBL] [Abstract][Full Text] [Related]
6. Prevalence and disease predisposition of p.A91V perforin in an aged population of European ancestry.
Voskoboinik I; Lacaze P; Jang HS; Flinsenberg T; Fernando SL; Kerridge I; Riaz M; Sebra R; Thia K; Noori T; Schadt EE; McNeil JJ; Trapani JA
Blood; 2020 Feb; 135(8):582-584. PubMed ID: 31932842
[No Abstract] [Full Text] [Related]
7. Post-transplantation donor-derived Sezary syndrome in a patient with A91V PRF1 variant hemophagocytic lymphohistiocytosis.
S Mehta R; Torres Cabala CA; DiNardo CD; Daver N; Dabaja B; Rezvani K; Champlin RE; Shpall E; Duvic M
Am J Hematol; 2021 Sep; 96(9):E350-E353. PubMed ID: 34096089
[No Abstract] [Full Text] [Related]
8. 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]
9. Perforin, COVID-19 and a possible pathogenic auto-inflammatory feedback loop.
Cunningham L; Kimber I; Basketter D; Simmonds P; McSweeney S; Tziotzios C; McFadden JP
Scand J Immunol; 2021 Nov; 94(5):e13102. PubMed ID: 34755902
[TBL] [Abstract][Full Text] [Related]
10. Functional and genetic testing in adults with HLH reveals an inflammatory profile rather than a cytotoxicity defect.
Carvelli J; Piperoglou C; Farnarier C; Vely F; Mazodier K; Audonnet S; Nitschke P; Bole-Feysot C; Boucekine M; Cambon A; Hamidou M; Harle JR; de Saint Basile G; Kaplanski G
Blood; 2020 Jul; 136(5):542-552. PubMed ID: 32356861
[TBL] [Abstract][Full Text] [Related]
11. Familial haemophagocytic lymphohistiocytosis in patients who are heterozygous for the A91V perforin variation is often associated with other genetic defects.
Zhang K; Johnson JA; Biroschak J; Villanueva J; Lee SM; Bleesing JJ; Risma KA; Wenstrup RJ; Filipovich AH
Int J Immunogenet; 2007 Aug; 34(4):231-3. PubMed ID: 17627755
[No Abstract] [Full Text] [Related]
12. Novel mutation of the perforin gene and maternal uniparental disomy 10 in a patient with familial hemophagocytic lymphohistiocytosis.
Al-Jasmi F; Abdelhaleem M; Stockley T; Lee KS; Clarke JT
J Pediatr Hematol Oncol; 2008 Aug; 30(8):621-4. PubMed ID: 18799942
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. 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]
16. Clinical and molecular aspects of Turkish familial hemophagocytic lymphohistiocytosis patients with perforin mutations.
Okur H; Balta G; Akarsu N; Oner A; Patiroglu T; Bay A; Sayli T; Unal S; Gurgey A
Leuk Res; 2008 Jun; 32(6):972-5. PubMed ID: 18190960
[TBL] [Abstract][Full Text] [Related]
17. Structural and functional analysis of perforin mutations in association with clinical data of familial hemophagocytic lymphohistiocytosis type 2 (FHL2) patients.
An O; Gursoy A; Gurgey A; Keskin O
Protein Sci; 2013 Jun; 22(6):823-39. PubMed ID: 23592409
[TBL] [Abstract][Full Text] [Related]
18. Hemophagocytic lymphohistiocytosis and other hemophagocytic disorders.
Filipovich AH
Immunol Allergy Clin North Am; 2008 May; 28(2):293-313, viii. PubMed ID: 18424334
[TBL] [Abstract][Full Text] [Related]
19. Familial hemophagocytic lymphohistiocytosis in an adult patient homozygous for A91V in the perforin gene, with tuberculosis infection.
Mancebo E; Allende LM; Guzmán M; Paz-Artal E; Gil J; Urrea-Moreno R; Fernández-Cruz E; Gayà A; Calvo J; Arbós A; Durán MA; Canet R; Balanzat J; Udina MA; Vercher FJ
Haematologica; 2006 Sep; 91(9):1257-60. PubMed ID: 16956828
[TBL] [Abstract][Full Text] [Related]
20. Hemophagocytic lymphohistiocytosis: updates and evolving concepts.
Risma K; Jordan MB
Curr Opin Pediatr; 2012 Feb; 24(1):9-15. PubMed ID: 22189397
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]