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Items: 1 to 20 of 118

1.

Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations.

Price S, Shaw PA, Seitz A, Joshi G, Davis J, Niemela JE, Perkins K, Hornung RL, Folio L, Rosenberg PS, Puck JM, Hsu AP, Lo B, Pittaluga S, Jaffe ES, Fleisher TA, Rao VK, Lenardo MJ.

Blood. 2014 Mar 27;123(13):1989-99. doi: 10.1182/blood-2013-10-535393. Epub 2014 Jan 7.

2.

Autoimmune lymphoproliferative syndrome due to somatic FAS mutation (ALPS-sFAS) combined with a germline caspase-10 (CASP10) variation.

Martínez-Feito A, Melero J, Mora-Díaz S, Rodríguez-Vigil C, Elduayen R, González-Granado LI, Pérez-Méndez D, Sánchez-Zapardiel E, Ruiz-García R, Menchén M, Díaz-Madroñero J, Paz-Artal E, Del Orbe-Barreto R, Riñón M, Allende LM.

Immunobiology. 2016 Jan;221(1):40-7. doi: 10.1016/j.imbio.2015.08.004. Epub 2015 Aug 17.

PMID:
26323380
3.

Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome.

Dowdell KC, Niemela JE, Price S, Davis J, Hornung RL, Oliveira JB, Puck JM, Jaffe ES, Pittaluga S, Cohen JI, Fleisher TA, Rao VK.

Blood. 2010 Jun 24;115(25):5164-9. doi: 10.1182/blood-2010-01-263145. Epub 2010 Apr 1.

4.

Bone marrow findings in autoimmune lymphoproliferative syndrome with germline FAS mutation.

Xie Y, Pittaluga S, Price S, Raffeld M, Hahn J, Jaffe ES, Rao VK, Maric I.

Haematologica. 2017 Feb;102(2):364-372. doi: 10.3324/haematol.2015.138081. Epub 2016 Oct 20.

5.

A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation.

Neven B, Magerus-Chatinet A, Florkin B, Gobert D, Lambotte O, De Somer L, Lanzarotti N, Stolzenberg MC, Bader-Meunier B, Aladjidi N, Chantrain C, Bertrand Y, Jeziorski E, Leverger G, Michel G, Suarez F, Oksenhendler E, Hermine O, Blanche S, Picard C, Fischer A, Rieux-Laucat F.

Blood. 2011 Nov 3;118(18):4798-807. doi: 10.1182/blood-2011-04-347641. Epub 2011 Sep 1.

6.

Autoimmune Lymphoproliferative Syndrome.

Bleesing JJH, Johnson J, Zhang K.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2006 Sep 14 [updated 2014 Sep 11].

7.

Identification of new Fas mutations in a patient with autoimmune lymphoproliferative syndrome (ALPS) and eosinophilia.

Aspinall AI, Pinto A, Auer IA, Bridges P, Luider J, Dimnik L, Patel KD, Jorgenson K, Woodman RC.

Blood Cells Mol Dis. 1999 Jun-Aug;25(3-4):227-38.

PMID:
10575548
8.

Abnormally differentiated CD4+ or CD8+ T cells with phenotypic and genetic features of double negative T cells in human Fas deficiency.

Rensing-Ehl A, Völkl S, Speckmann C, Lorenz MR, Ritter J, Janda A, Abinun M, Pircher H, Bengsch B, Thimme R, Fuchs I, Ammann S, Allgäuer A, Kentouche K, Cant A, Hambleton S, Bettoni da Cunha C, Huetker S, Kühnle I, Pekrun A, Seidel MG, Hummel M, Mackensen A, Schwarz K, Ehl S.

Blood. 2014 Aug 7;124(6):851-60. doi: 10.1182/blood-2014-03-564286. Epub 2014 Jun 3.

9.

Clincal, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis.

Sneller MC, Wang J, Dale JK, Strober W, Middelton LA, Choi Y, Fleisher TA, Lim MS, Jaffe ES, Puck JM, Lenardo MJ, Straus SE.

Blood. 1997 Feb 15;89(4):1341-8.

10.

Advances in autoimmune lymphoproliferative syndromes.

Madkaikar M, Mhatre S, Gupta M, Ghosh K.

Eur J Haematol. 2011 Jul;87(1):1-9. doi: 10.1111/j.1600-0609.2011.01617.x. Review.

PMID:
21447005
11.

FAS-L, IL-10, and double-negative CD4- CD8- TCR alpha/beta+ T cells are reliable markers of autoimmune lymphoproliferative syndrome (ALPS) associated with FAS loss of function.

Magerus-Chatinet A, Stolzenberg MC, Loffredo MS, Neven B, Schaffner C, Ducrot N, Arkwright PD, Bader-Meunier B, Barbot J, Blanche S, Casanova JL, Debré M, Ferster A, Fieschi C, Florkin B, Galambrun C, Hermine O, Lambotte O, Solary E, Thomas C, Le Deist F, Picard C, Fischer A, Rieux-Laucat F.

Blood. 2009 Mar 26;113(13):3027-30. doi: 10.1182/blood-2008-09-179630. Epub 2009 Jan 27.

12.

Autoimmune lymphoproliferative syndrome due to FAS mutations outside the signal-transducing death domain: molecular mechanisms and clinical penetrance.

Hsu AP, Dowdell KC, Davis J, Niemela JE, Anderson SM, Shaw PA, Rao VK, Puck JM.

Genet Med. 2012 Jan;14(1):81-9. doi: 10.1038/gim.0b013e3182310b7d. Epub 2011 Oct 7.

PMID:
22237435
13.

Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance.

Jackson CE, Fischer RE, Hsu AP, Anderson SM, Choi Y, Wang J, Dale JK, Fleisher TA, Middelton LA, Sneller MC, Lenardo MJ, Straus SE, Puck JM.

Am J Hum Genet. 1999 Apr;64(4):1002-14.

14.

[A case of autoimmune lymphoproliferactive syndrome and literature review].

Liu L, Hu J, Ma J, Li X, Li F, Li C.

Zhonghua Er Ke Za Zhi. 2014 Dec;52(12):923-6. Review. Chinese.

PMID:
25619350
15.

Immunophenotypic profiles in families with autoimmune lymphoproliferative syndrome.

Bleesing JJ, Brown MR, Straus SE, Dale JK, Siegel RM, Johnson M, Lenardo MJ, Puck JM, Fleisher TA.

Blood. 2001 Oct 15;98(8):2466-73.

16.

A rapid ex vivo clinical diagnostic assay for fas receptor-induced T lymphocyte apoptosis.

Lo B, Ramaswamy M, Davis J, Price S, Rao VK, Siegel RM, Lenardo MJ.

J Clin Immunol. 2013 Feb;33(2):479-88. doi: 10.1007/s10875-012-9811-z. Epub 2012 Oct 11.

17.

Accessory spleen: differential diagnosis for lymphoma in autoimmune lymphoproliferative syndrome.

Georgin-Lavialle S, Aouba A, Canioni D, Rieux-Laucat F, Fischer A, Hermine O.

Pediatr Blood Cancer. 2010 Jul 1;54(7):1020-2. doi: 10.1002/pbc.22445.

PMID:
20162683
18.

Co-inherited mutations of Fas and caspase-10 in development of the autoimmune lymphoproliferative syndrome.

Cerutti E, Campagnoli MF, Ferretti M, Garelli E, Crescenzio N, Rosolen A, Chiocchetti A, Lenardo MJ, Ramenghi U, Dianzani U.

BMC Immunol. 2007 Nov 13;8:28.

19.

Mutation of FAS, XIAP, and UNC13D genes in a patient with a complex lymphoproliferative phenotype.

Boggio E, Aricò M, Melensi M, Dianzani I, Ramenghi U, Dianzani U, Chiocchetti A.

Pediatrics. 2013 Oct;132(4):e1052-8. doi: 10.1542/peds.2012-1838. Epub 2013 Sep 16.

20.

FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome.

Kuehn HS, Caminha I, Niemela JE, Rao VK, Davis J, Fleisher TA, Oliveira JB.

J Immunol. 2011 May 15;186(10):6035-43. doi: 10.4049/jimmunol.1100021. Epub 2011 Apr 13.

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