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Items: 1 to 20 of 79

1.

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.

2.

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.

3.

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.

4.

Clinical flow cytometric screening of SAP and XIAP expression accurately identifies patients with SH2D1A and XIAP/BIRC4 mutations.

Gifford CE, Weingartner E, Villanueva J, Johnson J, Zhang K, Filipovich AH, Bleesing JJ, Marsh RA.

Cytometry B Clin Cytom. 2014 Jul;86(4):263-71. doi: 10.1002/cyto.b.21166. Epub 2014 Feb 19.

5.

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
6.

A new functional assay for the diagnosis of X-linked inhibitor of apoptosis (XIAP) deficiency.

Ammann S, Elling R, Gyrd-Hansen M, Dückers G, Bredius R, Burns SO, Edgar JD, Worth A, Brandau H, Warnatz K, Zur Stadt U, Hasselblatt P, Schwarz K, Ehl S, Speckmann C.

Clin Exp Immunol. 2014 Jun;176(3):394-400. doi: 10.1111/cei.12306.

7.

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
8.

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
9.

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
10.

Symptomatic males and female carriers in a large Caucasian kindred with XIAP deficiency.

Dziadzio M, Ammann S, Canning C, Boyle F, Hassan A, Cale C, Elawad M, Fiil BK, Gyrd-Hansen M, Salzer U, Speckmann C, Grimbacher B.

J Clin Immunol. 2015 Jul;35(5):439-44. doi: 10.1007/s10875-015-0166-0. Epub 2015 May 6.

PMID:
25943627
11.

Rapid detection of intracellular SH2D1A protein in cytotoxic lymphocytes from patients with X-linked lymphoproliferative disease and their family members.

Tabata Y, Villanueva J, Lee SM, Zhang K, Kanegane H, Miyawaki T, Sumegi J, Filipovich AH.

Blood. 2005 Apr 15;105(8):3066-71. Epub 2005 Jan 4.

12.

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.

13.

Variable clinical phenotypes of X-linked lymphoproliferative syndrome in China: Report of five cases with three novel mutations and review of the literature.

Jin YY, Zhou W, Tian ZQ, Chen TX.

Hum Immunol. 2016 Aug;77(8):658-666. doi: 10.1016/j.humimm.2016.06.005. Epub 2016 Jun 8. Review.

PMID:
27288720
14.

Characterization of Crohn disease in X-linked inhibitor of apoptosis-deficient male patients and female symptomatic carriers.

Aguilar C, Lenoir C, Lambert N, Bègue B, Brousse N, Canioni D, Berrebi D, Roy M, Gérart S, Chapel H, Schwerd T, Siproudhis L, Schäppi M, Al-Ahmari A, Mori M, Yamaide A, Galicier L, Neven B, Routes J, Uhlig HH, Koletzko S, Patel S, Kanegane H, Picard C, Fischer A, Bensussan NC, Ruemmele F, Hugot JP, Latour S.

J Allergy Clin Immunol. 2014 Nov;134(5):1131-41.e9. doi: 10.1016/j.jaci.2014.04.031. Epub 2014 Jun 15.

PMID:
24942515
15.

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.

16.

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
17.

Early and rapid detection of X-linked lymphoproliferative syndrome with SH2D1A mutations by flow cytometry.

Zhao M, Kanegane H, Kobayashi C, Nakazawa Y, Ishii E, Kasai M, Terui K, Gocho Y, Imai K, Kiyasu J, Nonoyama S, Miyawaki T.

Cytometry B Clin Cytom. 2011 Jan;80(1):8-13. doi: 10.1002/cyto.b.20552.

18.

[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.

19.

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
20.

Dysgammaglobulinemia Associated With Glu349del, a Hypomorphic XIAP Mutation.

Nishida N, Yang X, Takasaki I, Imai K, Kato K, Inoue Y, Imamura T, Miyashita R, Kato F, Yamaide A, Mori M, Saito S, Hara J, Adachi Y, Miyawaki T, Kanegane H.

J Investig Allergol Clin Immunol. 2015;25(3):205-13.

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