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Items: 1 to 20 of 35

1.

Chlamydia pneumoniae infection-related hemophagocytic lymphohistiocytosis and acute encephalitis and poliomyelitis-like flaccid paralysis.

Yagi K, Kano G, Shibata M, Sakamoto I, Matsui H, Imashuku S.

Pediatr Blood Cancer. 2011 May;56(5):853-5. doi: 10.1002/pbc.22889. Epub 2010 Nov 5.

PMID:
21370423
2.

Mutations in the perforin gene can be linked to macrophage activation syndrome in patients with systemic onset juvenile idiopathic arthritis.

Vastert SJ, van Wijk R, D'Urbano LE, de Vooght KM, de Jager W, Ravelli A, Magni-Manzoni S, Insalaco A, Cortis E, van Solinge WW, Prakken BJ, Wulffraat NM, de Benedetti F, Kuis W.

Rheumatology (Oxford). 2010 Mar;49(3):441-9. doi: 10.1093/rheumatology/kep418. Epub 2009 Dec 17.

PMID:
20019066
3.

Hemophagocytic lymphohistiocytosis (HLH) and related disorders.

Filipovich AH.

Hematology Am Soc Hematol Educ Program. 2009:127-31. doi: 10.1182/asheducation-2009.1.127.

PMID:
20008190
4.

Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11.

zur Stadt U, Rohr J, Seifert W, Koch F, Grieve S, Pagel J, Strauss J, Kasper B, Nürnberg G, Becker C, Maul-Pavicic A, Beutel K, Janka G, Griffiths G, Ehl S, Hennies HC.

Am J Hum Genet. 2009 Oct;85(4):482-92. doi: 10.1016/j.ajhg.2009.09.005.

5.

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.

6.

A teenage boy with late onset hemophagocytic lymphohistiocytosis with predominant neurologic disease and perforin deficiency.

Beaty AD, Weller C, Levy B, Vogler C, Ferguson WS, Bicknese A, Knutsen AP.

Pediatr Blood Cancer. 2008 May;50(5):1070-2.

PMID:
18074390
7.

Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations.

Trizzino A, zur Stadt U, Ueda I, Risma K, Janka G, Ishii E, Beutel K, Sumegi J, Cannella S, Pende D, Mian A, Henter JI, Griffiths G, Santoro A, Filipovich A, Aricò M; Histiocyte Society HLH Study group.

J Med Genet. 2008 Jan;45(1):15-21. Epub 2007 Sep 14.

PMID:
17873118
8.

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. No abstract available.

PMID:
17627755
9.

Perforin gene mutations in adult-onset hemophagocytic lymphohistiocytosis.

Nagafuji K, Nonami A, Kumano T, Kikushige Y, Yoshimoto G, Takenaka K, Shimoda K, Ohga S, Yasukawa M, Horiuchi H, Ishii E, Harada M.

Haematologica. 2007 Jul;92(7):978-81.

10.

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.

11.

XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome.

Rigaud S, Fondanèche MC, Lambert N, Pasquier B, Mateo V, Soulas P, Galicier L, Le Deist F, Rieux-Laucat F, Revy P, Fischer A, de Saint Basile G, Latour S.

Nature. 2006 Nov 2;444(7115):110-4.

PMID:
17080092
12.

A91V perforin variation in healthy subjects and FHLH patients.

Busiello R, Fimiani G, Miano MG, Aricò M, Santoro A, Ursini MV, Pignata C.

Int J Immunogenet. 2006 Apr;33(2):123-5.

PMID:
16611257
13.

Aberrant maturation of mutant perforin underlies the clinical diversity of hemophagocytic lymphohistiocytosis.

Risma KA, Frayer RW, Filipovich AH, Sumegi J.

J Clin Invest. 2006 Jan;116(1):182-92. Epub 2005 Dec 22.

14.

A single amino acid change A91V in perforin: a novel, frequent predisposing factor to childhood acute lymphoblastic leukemia?

Santoro A, Cannella S, Trizzino A, Lo Nigro L, Corsello G, Aricò M.

Haematologica. 2005 May;90(5):697-8.

16.

Occurrence of haemophagocytic lymphohistiocytosis at less than 1 year of age: analysis of 96 patients.

Imashuku S, Ueda I, Teramura T, Mori K, Morimoto A, Sako M, Ishii E.

Eur J Pediatr. 2005 May;164(5):315-9. Epub 2005 Feb 25.

PMID:
15731905
17.

A proportion of patients with lymphoma may harbor mutations of the perforin gene.

Clementi R, Locatelli F, Dupré L, Garaventa A, Emmi L, Bregni M, Cefalo G, Moretta A, Danesino C, Comis M, Pession A, Ramenghi U, Maccario R, Aricò M, Roncarolo MG.

Blood. 2005 Jun 1;105(11):4424-8. Epub 2005 Feb 22.

18.

Review of hemophagocytic lymphohistiocytosis (HLH) in children with focus on Japanese experiences.

Ishii E, Ohga S, Imashuku S, Kimura N, Ueda I, Morimoto A, Yamamoto K, Yasukawa M.

Crit Rev Oncol Hematol. 2005 Mar;53(3):209-23. Review.

PMID:
15718147
19.

Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11.

zur Stadt U, Schmidt S, Kasper B, Beutel K, Diler AS, Henter JI, Kabisch H, Schneppenheim R, Nürnberg P, Janka G, Hennies HC.

Hum Mol Genet. 2005 Mar 15;14(6):827-34. Epub 2005 Feb 9.

PMID:
15703195
20.

Genetic subtypes of familial hemophagocytic lymphohistiocytosis: correlations with clinical features and cytotoxic T lymphocyte/natural killer cell functions.

Ishii E, Ueda I, Shirakawa R, Yamamoto K, Horiuchi H, Ohga S, Furuno K, Morimoto A, Imayoshi M, Ogata Y, Zaitsu M, Sako M, Koike K, Sakata A, Takada H, Hara T, Imashuku S, Sasazuki T, Yasukawa M.

Blood. 2005 May 1;105(9):3442-8. Epub 2005 Jan 4.

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