Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 103

1.

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]
2.

[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]
3.

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]
4.

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
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
[PubMed - indexed for MEDLINE]
6.

Fatal EBV infection and variable clinical manifestations in an XLP-1 pedigree - rapid diagnosis of primary immunodeficiencies may save lives.

Sperl D, Benesch M, Urban C, Lackner H, Sovinz P, Speicher MR, Uhrig S, Schwarzbraun T, Schwinger W, zur Stadt U, Beutel K, Janka G, Scarpatetti M, Seidel MG.

Klin Padiatr. 2012 Oct;224(6):386-9. doi: 10.1055/s-0032-1323836. Epub 2012 Nov 9.

PMID:
23143765
[PubMed - indexed for MEDLINE]
7.

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
8.

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]
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
[PubMed - indexed for MEDLINE]
10.

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
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 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
13.

Hemophagocytic lymphohistiocytosis in a patient with x-linked lymphoproliferative disease.

Bird JA, McClain KL, Rosenblatt HM, Abramson SL, Hanson IC.

Allergy Asthma Proc. 2009 Jul-Aug;30(4):458-62. doi: 10.2500/aap.2009.30.3259.

PMID:
19772767
[PubMed - indexed for MEDLINE]
14.

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
15.

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]
16.

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]
17.

Case 10-2011: Fever, confusion, and liver failure.

Sandoval C.

N Engl J Med. 2011 Jul 14;365(2):186-7; author reply 187. doi: 10.1056/NEJMc1104834#SA3. No abstract available.

PMID:
21751931
[PubMed - indexed for MEDLINE]
18.

Screening the PRF1, UNC13D, STX11, SH2D1A, XIAP, and ITK gene mutations in Chinese children with Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis.

Zhizhuo H, Junmei X, Yuelin S, Qiang Q, Chunyan L, Zhengde X, Kunling S.

Pediatr Blood Cancer. 2012 Mar;58(3):410-4. doi: 10.1002/pbc.23216. Epub 2011 Jun 14.

PMID:
21674762
[PubMed - indexed for MEDLINE]
19.

HHV-8-related hemophagocytic lymphohistiocytosis in a boy with XLP phenotype.

Pasic S, Cupic M, Lazarevic I.

J Pediatr Hematol Oncol. 2012 Aug;34(6):467-71. doi: 10.1097/MPH.0b013e3182375372.

PMID:
22258354
[PubMed - indexed for MEDLINE]
20.

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]

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk