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Items: 1 to 20 of 141

1.

Hemophagocytic lymphohistiocytosis with MUNC13-4 gene mutation or reduced natural killer cell function prior to onset of childhood leukemia.

Chang TY, Jaffray J, Woda B, Newburger PE, Usmani GN.

Pediatr Blood Cancer. 2011 May;56(5):856-8. doi: 10.1002/pbc.22846. Epub 2010 Dec 15.

2.

Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis 4 (FHL4) patients.

Bryceson YT, Rudd E, Zheng C, Edner J, Ma D, Wood SM, Bechensteen AG, Boelens JJ, Celkan T, Farah RA, Hultenby K, Winiarski J, Roche PA, Nordenskjöld M, Henter JI, Long EO, Ljunggren HG.

Blood. 2007 Sep 15;110(6):1906-15. Epub 2007 May 24.

3.

Mutations of perforin and Munc13-4 do not mark HLH by NK defects.

Schneider EM.

Pediatr Blood Cancer. 2006 Apr;46(4):409-11. No abstract available.

PMID:
16365870
4.

Correlation between phenotypic heterogeneity and gene mutational characteristics in familial hemophagocytic lymphohistiocytosis (FHL).

Ueda I, Ishii E, Morimoto A, Ohga S, Sako M, Imashuku S.

Pediatr Blood Cancer. 2006 Apr;46(4):482-8.

PMID:
16365863
5.

Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis (FHL) patients in India.

Mhatre S, Madkaikar M, Desai M, Ghosh K.

Blood Cells Mol Dis. 2015 Mar;54(3):250-7. doi: 10.1016/j.bcmd.2014.11.023. Epub 2014 Dec 23.

PMID:
25577959
6.

Hemophagocytic lymphohistiocytosis caused by dominant-negative mutations in STXBP2 that inhibit SNARE-mediated membrane fusion.

Spessott WA, Sanmillan ML, McCormick ME, Patel N, Villanueva J, Zhang K, Nichols KE, Giraudo CG.

Blood. 2015 Mar 5;125(10):1566-77. doi: 10.1182/blood-2014-11-610816. Epub 2015 Jan 6.

7.

Mutations of the hemophagocytic lymphohistiocytosis-associated gene UNC13D in a patient with systemic juvenile idiopathic arthritis.

Hazen MM, Woodward AL, Hofmann I, Degar BA, Grom A, Filipovich AH, Binstadt BA.

Arthritis Rheum. 2008 Feb;58(2):567-70. doi: 10.1002/art.23199.

8.

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. Epub 2007 Nov 9.

PMID:
17993578
9.

Polygenic mutations in the cytotoxicity pathway increase susceptibility to develop HLH immunopathology in mice.

Sepulveda FE, Garrigue A, Maschalidi S, Garfa-Traore M, Ménasché G, Fischer A, de Saint Basile G.

Blood. 2016 Apr 28;127(17):2113-21. doi: 10.1182/blood-2015-12-688960. Epub 2016 Feb 10.

10.
11.

Angeborene hämophagozytische Lymphohistiozytose (HLH).

Pachlopnik Schmid J, de Saint Basile G.

Klin Padiatr. 2010 Nov;222(6):345-50. doi: 10.1055/s-0029-1246165. Epub 2010 May 10. Review.

PMID:
20458667
12.

Fatal Epstein-Barr virus infection in a case of familial hemophagocytic lymphohistiocytosis with syntaxin-11 mutation.

Albayrak M, Kaya Z, Yilmaz-Keskin E, Stadt UZ, Koçak U, Gürsel T.

Turk J Pediatr. 2009 Jul-Aug;51(4):371-4.

PMID:
19950846
13.

A Heterozygous RAB27A Mutation Associated with Delayed Cytolytic Granule Polarization and Hemophagocytic Lymphohistiocytosis.

Zhang M, Bracaglia C, Prencipe G, Bemrich-Stolz CJ, Beukelman T, Dimmitt RA, Chatham WW, Zhang K, Li H, Walter MR, De Benedetti F, Grom AA, Cron RQ.

J Immunol. 2016 Mar 15;196(6):2492-503. doi: 10.4049/jimmunol.1501284. Epub 2016 Feb 15.

14.

Impairment of Immune Function in Children with Familial Hemophagocytic Lymphohistiocytosis.

Popko K, Jasińska J, Górska E, Demkow U, Balwierz W, Maciejka-Kembłowska L, Badowska W, Wachowiak J, Drabko K, Malinowska I.

Adv Exp Med Biol. 2016;912:21-31. doi: 10.1007/5584_2016_210.

PMID:
26987330
15.

STX11 mutations and clinical phenotypes of familial hemophagocytic lymphohistiocytosis in North America.

Marsh RA, Satake N, Biroschak J, Jacobs T, Johnson J, Jordan MB, Bleesing JJ, Filipovich AH, Zhang K.

Pediatr Blood Cancer. 2010 Jul 15;55(1):134-40. doi: 10.1002/pbc.22499.

PMID:
20486178
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. doi: 10.3324/haematol.2009.016949. Epub 2009 Dec 16.

17.

Precursor B-cell acute lymphoblastic leukemia presenting with hemophagocytic lymphohistiocytosis.

O'Brien MM, Lee-Kim Y, George TI, McClain KL, Twist CJ, Jeng M.

Pediatr Blood Cancer. 2008 Feb;50(2):381-3.

PMID:
16856156
18.

[The study of gene mutations in unknown refractory viral infection and primary hemophagocytic lymphohistiocytosis].

Tong CR, Liu HX, Xie JJ, Wang F, Cai P, Wang H, Zhu J, Teng W, Zhang X, Yang JF, Zhang YL, Fei XH, Zhao J, Yin YM, Wu T, Wang JB, Sun Y, Liu R, Shi XD, Lu DP.

Zhonghua Nei Ke Za Zhi. 2011 Apr;50(4):280-3. Chinese.

PMID:
21600143
19.

Whole-Exome Sequencing Reveals Mutations in Genes Linked to Hemophagocytic Lymphohistiocytosis and Macrophage Activation Syndrome in Fatal Cases of H1N1 Influenza.

Schulert GS, Zhang M, Fall N, Husami A, Kissell D, Hanosh A, Zhang K, Davis K, Jentzen JM, Napolitano L, Siddiqui J, Smith LB, Harms PW, Grom AA, Cron RQ.

J Infect Dis. 2016 Apr 1;213(7):1180-8. doi: 10.1093/infdis/jiv550. Epub 2015 Nov 23.

20.

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 24;121(4):604-13. doi: 10.1182/blood-2012-07-441139. Epub 2012 Nov 27.

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