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Results: 1 to 20 of 102

1.

X-linked lymphoproliferative syndromes: brothers or distant cousins?

Filipovich AH, Zhang K, Snow AL, Marsh RA.

Blood. 2010 Nov 4;116(18):3398-408. doi: 10.1182/blood-2010-03-275909. Epub 2010 Jul 26. Review.

PMID:
20660790
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease.

Booth C, Gilmour KC, Veys P, Gennery AR, Slatter MA, Chapel H, Heath PT, Steward CG, Smith O, O'Meara A, Kerrigan H, Mahlaoui N, Cavazzana-Calvo M, Fischer A, Moshous D, Blanche S, Pachlopnik Schmid J, Latour S, de Saint-Basile G, Albert M, Notheis G, Rieber N, Strahm B, Ritterbusch H, Lankester A, Hartwig NG, Meyts I, Plebani A, Soresina A, Finocchi A, Pignata C, Cirillo E, Bonanomi S, Peters C, Kalwak K, Pasic S, Sedlacek P, Jazbec J, Kanegane H, Nichols KE, Hanson IC, Kapoor N, Haddad E, Cowan M, Choo S, Smart J, Arkwright PD, Gaspar HB.

Blood. 2011 Jan 6;117(1):53-62. doi: 10.1182/blood-2010-06-284935. Epub 2010 Oct 6. Erratum in: Blood. 2011 Nov 3;118(18):5060. Pachlopnick-Schmid, Jana [corrected to Pachlopnik Schmid, Jana].

PMID:
20926771
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Sustained elevation of serum interleukin-18 and its association with hemophagocytic lymphohistiocytosis in XIAP deficiency.

Wada T, Kanegane H, Ohta K, Katoh F, Imamura T, Nakazawa Y, Miyashita R, Hara J, Hamamoto K, Yang X, Filipovich AH, Marsh RA, Yachie A.

Cytokine. 2014 Jan;65(1):74-8. doi: 10.1016/j.cyto.2013.09.007. Epub 2013 Sep 29.

PMID:
24084330
[PubMed - indexed for MEDLINE]
4.

Using flow cytometry to screen patients for X-linked lymphoproliferative disease due to SAP deficiency and XIAP deficiency.

Marsh RA, Bleesing JJ, Filipovich AH.

J Immunol Methods. 2010 Oct 31;362(1-2):1-9. doi: 10.1016/j.jim.2010.08.010. Epub 2010 Sep 9.

PMID:
20816973
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency).

Pachlopnik Schmid J, Canioni D, Moshous D, Touzot F, Mahlaoui N, Hauck F, Kanegane H, Lopez-Granados E, Mejstrikova E, Pellier I, Galicier L, Galambrun C, Barlogis V, Bordigoni P, Fourmaintraux A, Hamidou M, Dabadie A, Le Deist F, Haerynck F, Ouachée-Chardin M, Rohrlich P, Stephan JL, Lenoir C, Rigaud S, Lambert N, Milili M, Schiff C, Chapel H, Picard C, de Saint Basile G, Blanche S, Fischer A, Latour S.

Blood. 2011 Feb 3;117(5):1522-9. doi: 10.1182/blood-2010-07-298372. Epub 2010 Nov 30.

PMID:
21119115
[PubMed - indexed for MEDLINE]
Free Article
6.

SAP and XIAP deficiency in hemophagocytic lymphohistiocytosis.

Yang X, Miyawaki T, Kanegane H.

Pediatr Int. 2012 Aug;54(4):447-54. doi: 10.1111/j.1442-200X.2012.03683.x. Review.

PMID:
22672194
[PubMed - indexed for MEDLINE]
7.

Lymphoproliferative Disease, X-Linked.

Filipovich A, Johnson J, Zhang K, Marsh R.

In: Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
2004 Feb 27 [updated 2013 Sep 19].

PMID:
20301580
[PubMed]
Books & Documents
8.

XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease.

Marsh RA, Madden L, Kitchen BJ, Mody R, McClimon B, Jordan MB, Bleesing JJ, Zhang K, Filipovich AH.

Blood. 2010 Aug 19;116(7):1079-82. doi: 10.1182/blood-2010-01-256099. Epub 2010 May 20.

PMID:
20489057
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

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
[PubMed - indexed for MEDLINE]
10.

Clinical phenotype and functional analysis of a rare XIAP/BIRC4 mutation.

Vieth S, Ammann S, Schwarz K, Härtel C, Schultz C, Lehmberg K, Lauten M.

Klin Padiatr. 2013 Nov;225(6):343-6. doi: 10.1055/s-0033-1355393. Epub 2013 Oct 28.

PMID:
24166087
[PubMed - indexed for MEDLINE]
11.

A rapid flow cytometric screening test for X-linked lymphoproliferative disease due to XIAP deficiency.

Marsh RA, Villanueva J, Zhang K, Snow AL, Su HC, Madden L, Mody R, Kitchen B, Marmer D, Jordan MB, Risma KA, Filipovich AH, Bleesing JJ.

Cytometry B Clin Cytom. 2009 Sep;76(5):334-44. doi: 10.1002/cyto.b.20473.

PMID:
19288545
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

Clinical and genetic characteristics of XIAP deficiency in Japan.

Yang X, Kanegane H, Nishida N, Imamura T, Hamamoto K, Miyashita R, Imai K, Nonoyama S, Sanayama K, Yamaide A, Kato F, Nagai K, Ishii E, van Zelm MC, Latour S, Zhao XD, Miyawaki T.

J Clin Immunol. 2012 Jun;32(3):411-20. doi: 10.1007/s10875-011-9638-z. Epub 2012 Jan 8.

PMID:
22228567
[PubMed - indexed for MEDLINE]
13.

X-linked inhibitor of apoptosis (XIAP) deficiency: the spectrum of presenting manifestations beyond hemophagocytic lymphohistiocytosis.

Speckmann C, Lehmberg K, Albert MH, Damgaard RB, Fritsch M, Gyrd-Hansen M, Rensing-Ehl A, Vraetz T, Grimbacher B, Salzer U, Fuchs I, Ufheil H, Belohradsky BH, Hassan A, Cale CM, Elawad M, Strahm B, Schibli S, Lauten M, Kohl M, Meerpohl JJ, Rodeck B, Kolb R, Eberl W, Soerensen J, von Bernuth H, Lorenz M, Schwarz K, Zur Stadt U, Ehl S.

Clin Immunol. 2013 Oct;149(1):133-41. doi: 10.1016/j.clim.2013.07.004. Epub 2013 Jul 31.

PMID:
23973892
[PubMed - indexed for MEDLINE]
14.

Natural killer T cells and X-linked lymphoproliferative syndrome.

Latour S.

Curr Opin Allergy Clin Immunol. 2007 Dec;7(6):510-4. Review.

PMID:
17989527
[PubMed - indexed for MEDLINE]
15.

X-linked lymphoproliferative syndromes and related autosomal recessive disorders.

Veillette A, Pérez-Quintero LA, Latour S.

Curr Opin Allergy Clin Immunol. 2013 Dec;13(6):614-22. doi: 10.1097/ACI.0000000000000008. Review.

PMID:
24113228
[PubMed - indexed for MEDLINE]
16.

Clinical and genetic features of 5 Chinese patients with X-linked lymphoproliferative syndrome.

Sun J, Ying W, Liu D, Hui X, Yu Y, Wang J, Wang X.

Scand J Immunol. 2013 Nov;78(5):463-7. doi: 10.1111/sji.12103.

PMID:
23944711
[PubMed - indexed for MEDLINE]
17.

[An X-linked lymphoproliferative syndrome (XLP) caused by mutations in the inhibitor-of-apoptosis gene XIAP].

Rigaud S, Latour S.

Med Sci (Paris). 2007 Mar;23(3):235-7. French. No abstract available.

PMID:
17349275
[PubMed - indexed for MEDLINE]
18.

Patients with X-linked lymphoproliferative disease due to BIRC4 mutation have normal invariant natural killer T-cell populations.

Marsh RA, Villanueva J, Kim MO, Zhang K, Marmer D, Risma KA, Jordan MB, Bleesing JJ, Filipovich AH.

Clin Immunol. 2009 Jul;132(1):116-23. doi: 10.1016/j.clim.2009.03.517. Epub 2009 Apr 23.

PMID:
19398375
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Cell surface receptors Ly-9 and CD84 recruit the X-linked lymphoproliferative disease gene product SAP.

Sayós J, Martín M, Chen A, Simarro M, Howie D, Morra M, Engel P, Terhorst C.

Blood. 2001 Jun 15;97(12):3867-74.

PMID:
11389028
[PubMed - indexed for MEDLINE]
Free Article
20.

Sequence analysis of BIRC4/XIAP in male patients with common variable immunodeficiency.

Salzer U, Hagena T, Webster DB, Grimbacher B.

Int Arch Allergy Immunol. 2008;147(2):147-51. doi: 10.1159/000135702. Epub 2008 Jun 3.

PMID:
18520160
[PubMed - indexed for MEDLINE]

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