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Items: 1 to 20 of 82

1.

[Progress of diagnosis and treatment of X-linked inhibitor of apoptosis deficiency].

Yang X, Kanegane H, Miyawaki T.

Zhonghua Er Ke Za Zhi. 2012 Jun;50(6):428-30. Review. Chinese. No abstract available.

PMID:
22931939
2.

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.

3.

Familial hemophagocytic lymphohistiocytosis and X-linked lymphoproliferative disease.

Marsh RA, Filipovich AH.

Ann N Y Acad Sci. 2011 Nov;1238:106-21. doi: 10.1111/j.1749-6632.2011.06265.x. Erratum in: Ann N Y Acad Sci. 2011 Dec;1246:141.

PMID:
22129058
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.

5.

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
6.

[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.

7.

Successful stem cell transplant with antibody-based conditioning for XIAP deficiency with refractory hemophagocytic lymphohistiocytosis.

Worth AJ, Nikolajeva O, Chiesa R, Rao K, Veys P, Amrolia PJ.

Blood. 2013 Jun 13;121(24):4966-8. doi: 10.1182/blood-2013-01-478735. Review. No abstract available.

8.

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.

9.

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
10.

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
11.

Complications of Reduced Intensity Conditioning HSCT for XIAP Deficiency (Alloimmune Cytopenias and HLH) Successfully Managed With Donor Lymphocyte Infusion.

Varghese AS, Lee H, Bonney D, Hughes S, Wynn R.

J Pediatr Hematol Oncol. 2015 Apr;37(3):e198-9. doi: 10.1097/MPH.0000000000000191.

PMID:
24942029
12.

Hemophagocytic lymphohistiocytosis in a female patient due to a heterozygous XIAP mutation and skewed X chromosome inactivation.

Holle JR, Marsh RA, Holdcroft AM, Davies SM, Wang L, Zhang K, Jordan MB.

Pediatr Blood Cancer. 2015 Jul;62(7):1288-90. doi: 10.1002/pbc.25483. Epub 2015 Mar 19.

PMID:
25801017
13.

Hemophagocytic lymphohistiocytosis: advances in pathophysiology, diagnosis, and treatment.

Chandrakasan S, Filipovich AH.

J Pediatr. 2013 Nov;163(5):1253-9. doi: 10.1016/j.jpeds.2013.06.053. Epub 2013 Aug 15. Review. No abstract available.

PMID:
23953723
14.

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.

15.

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
16.

Two new families with X-linked inhibitor of apoptosis deficiency and a review of all 26 published cases.

Horn PC, Belohradsky BH, Urban C, Weber-Mzell D, Meindl A, Schuster V.

J Allergy Clin Immunol. 2011 Feb;127(2):544-6. doi: 10.1016/j.jaci.2010.11.040. No abstract available.

PMID:
21281876
17.

BIRC4 Mutation: An Important Rare Cause of Uveitis.

Basiaga ML, Weiss PF, Behrens EM.

J Clin Rheumatol. 2015 Dec;21(8):444-7. doi: 10.1097/RHU.0000000000000327.

18.

[Flow cytometry in the diagnosis of hemophagocytic lymphohistiocytosis in a case with fatal outcome].

Pállinger E, Erdélyi D, Kovács G, Kriván G, Korponay Z, Fekete G, Szabó A, Falus A, Dérfalvi B.

Orv Hetil. 2014 Mar 9;155(10):389-95. doi: 10.1556/OH.2014.29790. Hungarian.

PMID:
24583560
19.

[Genetic defects and pathogenesis of hemophagocytic syndrome].

Ishii E.

Rinsho Ketsueki. 2006 Oct;47(10):1340-52. Review. Japanese. No abstract available.

PMID:
17094573
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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