| 1 | LYP, SH2D1A
|
| Maternal onset de novo SH2D1A mutation and lymphocytic choriomeningitis virus infection in a patient with X‑linked lymphoproliferative disease type 1: a case report.
|
| Liu J, Tian W, Wang F, Teng W, Zhang Y, Tong C, Zhang C, Ju Y, Zhang B, Zhao S, Liu H.
|
| Mol Med Rep 11(5):3291-4. doi: 10.3892/mmr.2015.3173. Epub 2015 Jan 9.
2015
|
| 2 | LYP, SH2D1A
|
| Severe XLP Phenotype Caused by a Novel Intronic Mutation in the SH2D1A Gene.
|
| Tóth B, Soltész B, Gyimesi E, Csorba G, Veres A, Lányi A, Kovács G, Maródi L, Erdős M.
|
| J Clin Immunol Clin Immunol. 2014 Dec 10. [Epub ahead of print]
2014
|
| 3 | LYP, SH2D1A
|
| Skin lesions in a boy with X-linked lymphoproliferative disorder: comparison of 5 SH2D1A deletion cases.
|
| Mejstríková E, Janda A, Hrusák O, Bucková H, Vlcková M, Hancárová M, Freiberger T, Ravcuková B, Vesely K, Fajkusová L, Kopecková L, Sumerauer D, Kabícková E, Sedivá A, Stary J, Sedlácek Z.
|
| Pediatrics 129(2):e523-8. doi: 10.1542/peds.2011-0870. Epub 2012 Jan 23.
2012
|
| 4 | LYP, SH2D1A
|
| 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, Pachlopnick-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 117(1):53-62. Epub 2010 Oct 6. 2011
|
| 5 | LYP, SH2D1A, XIAP, XLP2
|
| 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 117(5):1522-9. Epub 2010 Nov 30.
2011
|
| 6 | LYP, SH2D1A
|
| The XLP syndrome protein SAP interacts with SH3 proteins to regulate T cell signaling and proliferation.
|
| Li C, Schibli D, Li SS.
|
| Cell Signal 21(1):111-9. Epub 2008 Sep 30.PMID: 18951976 2009
|
| 7 | LYP, SH2D1A
|
| The X-linked lymphoproliferative syndrome gene product SAP regulates B cell function through the FcgammaRIIB receptor.
|
| Li C, Chung B, Tao J, Iosef C, Aoukaty A, Wang Y, Tan R, Li SS.
|
| Cell Signal 20(11):1960-7. Epub 2008 Jul 6.PMID: 18662772 2008
|
| 8 | LYP, SH2D1A
|
| SAP expression in T cells, not in B cells, is required for humoral immunity.
|
| Veillette A, Zhang S, Shi X, Dong Z, Davidson D, Zhong MC.
|
| Proc Natl Acad Sci U S A 105(4):1273-8. Epub 2008 Jan 22.PMID: 18212118 2008
|
| 9 | LYP, XIAP, XLP2
|
| XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome.
|
| Rigaud S, Fondaneche 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 444(7115):110-4. 2006
|
| 10 | SH2D1A, LYP, FYN
|
| Missense mutations in SH2D1A identified in patients with X-linked lymphoproliferative disease differentially affect the expression and function of SAP.
|
| Hare NJ, Ma CS, Alvaro F, Nichols KE, Tangye SG.
|
| Int Immunol 18(7):1055-65. Epub 2006 May 23. 2006
|
| 11 | SH2D1A, LYP
|
| Analysis of SH2D1A mutations in patients with severe Epstein-Barr virus infections, Burkitt's lymphoma, and Hodgkin's lymphoma.
|
| Parolini O, Kagerbauer B, Simonitsch-Klupp I, Ambros P, Jaeger U, Mann G, Haas OA, Morra M, Gadner H, Terhorst C, Knapp W, Holter W.
|
| Ann Hematol 81(8):441-7. Epub 2002 Jul 20. 2002
|
| 12 | LYP, SH2D1A
|
| Hemophagocytic lymphohistiocytosis due to germline mutations in SH2D1A, the X-linked lymphoproliferative disease gene.
|
| Arico M, Imashuku S, Clementi R, Hibi S, Teramura T, Danesino C, Haber DA, Nichols KE.
|
| Blood 97(4):1131-3. 2001
|
| 13 | LYP, SH2D1A
|
| Large deletion of the X-linked lymphoproliferative disease gene detected by fluorescence in situ hybridization.
|
| Honda K, Kanegane H, Eguchi M, Kimura H, Morishima T, Masaki K, Tosato G, Miyawaki T, Ishii E.
|
| Am J Hematol 64(2):128-32. 2000
|
| 14 | LYP, SH2D1A
|
| Epstein-barr virus-negative boys with non-hodgkin lymphoma are mutated in the SH2D1A gene, as are patients with X-linked lymphoproliferative disease.
|
| Brandau O, Schuster V, Weiss M, Hellebrand H, Fink FM, Kreczy A, Friedrich W, Strahm B, Niemeyer C, Belohradsky BH, Meindl A.
|
| Hum Mol Genet 8(13):2407-13 1999
|
| 15 | LYP, SH2D1A
|
| SH2D1A mutation analysis for diagnosis of XLP in typical and atypical patients.
|
| Yin L, Ferrand V, Lavoue MF, Hayoz D, Philippe N, Souillet G, Seri M, Giacchino R, Castagnola E, Hodgson S, Sylla BS, Romeo G.
|
| Hum Genet 105(5):501-5 1999
|
| 16 | LYP
|
| High-resolution mapping of the X-linked lymphoproliferative syndrome region by FISH on combed DNA.
|
| Monier K, Michalet X, Lamartine J, Schurra C, Heitzmann F, Yin L, Cinti R, Sylla BS, Creaven M, Porta G, Vourc'h C, Robert-Nicoud M, Bensimon A, Romeo G.
|
| Cytogenet Cell Genet 81 : 259-264. 1998
|
| 17 | LYP, SH2D1A
|
| The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM.
|
| Sayos J, et al.
|
| Nature 395 : 462-469. 1998
|
| 18 | LYP, ITSN1
|
| A new candidate region for the positional cloning of the XLP gene.
|
| Bolino A, Yin L, Seri M, Cusano R, Cinti R, Coffey A, Brooksbank R, Howell G, Bentley D, Davis JR, Lanyi A, Huang D, Stark M, Creaven M, Bjorkhaug L, Heitzmann F, Lamartine J, Gaudi S, Sylla BS, Lenoir GM, Castagnola E, Giacchino R, Porta G, Franco B, Zollo M, Sumegi J, Romeo G.
|
| Eur J Hum Genet 6 : 509-517. 1998
|
| 19 | LYP, SH2D1A
|
| Inactivating mutations in an SH2 domain-encoding gene in X-linked lymphoproliferative syndrome.
|
| Nichols KE, et al.
|
| Proc Natl Acad Sci U S A 95 : 13765-13770. 1998
|
| 20 | LYP, SH2D1A
|
| Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene.
|
| Coffey AJ, Brooksbank RA, Brandau O, Oohashi T, Howell GR, Bye JM, Cahn AP,Durham J, Heath P, Wray P, Pavitt R, Wilkinson J, Leversha M, Huckle E,Shaw-Smith CJ, Dunham A, Rhodes S, Schuster V, Porta G, Yin L, Serafini P, SyllaB, Zollo M, Franco B, Bentley
|
| Nat Genet 20(2):129-35. 1998
|
| 21 | LYP
|
| A yeast artificial chromosome (YAC) contig encompassing the critical region of the X-linked lymphoproliferative disease (XLP) locus.
|
| Lanyi A, et al.
|
| Genomics 39 : 55-65. 1997
|
| 22 | LYP
|
| 4.5-Mb YAC STS contig at 50-kb resolution, spanning Xq25 deletions in two patients with lymphoproliferative syndrome.
|
| Porta G, et al.
|
| Genome Res 7 : 27-36. 1997
|
| 23 | LYP
|
| Physical map and cosmid contig encompassing a new interstitial deletion of the X-linked lymphoproliferative syndrome region.
|
| Lamartine J, et al.
|
| Eur J Hum Genet 4 : 342-351. 1996
|
| 24 | LYP
|
| Characterization of three overlapping deletions causing X-linked lymphoproliferative disease.
|
| Skare J, et al.
|
| Genomics 16 : 254-255. 1993
|
| 25 | LYP, DXS739, DXS982
|
| High-resolution mapping of probes near the X-linked lymphoproliferative disease (XLP) locus.
|
| Wu BL, et al.
|
| Genomics 17 : 163-170. 1993
|
| 26 | LYP, DXS12
|
| Physical mapping of Xq24-q25 around loci closely linked to the X-linked lymphoproliferative syndrome locus : an overlapping YAC map and linkage between DXS12, DXS42, and DXS37.
|
| Wang W, et al.
|
| Eur J Hum Genet 1 : 64-71. 1993
|
| 27 | LYP
|
| Characterization of an XLP patient carrying an interstitial deletion at Xq25.
|
| Sylla BS, et al.
|
| Cytogenet Cell Genet 64 : 189. 1993
|
| 28 | LYP
|
| Partial Xq25 deletion in a family with the X-linked lymphoproliferative disease (XLP).
|
| Sanger WG, et al.
|
| Cancer Genet Cytogenet 47 : 163-169. 1990
|
| 29 | LYP
|
| Mapping the mutation causing the X-linked lymphoproliferative syndrome in relation to restriction fragment length polymorphisms on Xq.
|
| Skare JC, Sullivan JL, Milunsky A.
|
| Hum Genet 82 : 349-353. 1989
|
| 30 | LYP, DXS37, DXS42
|
| Linkage analysis of seven kindreds with the X-linked lymphoproliferative syndrome (XLP) confirms that the XLP locus is near DXS42 and DXS37.
|
| Skare JC, et al.
|
| Hum Genet 82 : 354-358. 1989
|
| 31 | LYP
|
| Multipoint linkage mapping of the Xq25-q26 region in a family affected by the X-linked lymphoproliferative syndrome.
|
| Sylla BS, et al.
|
| Clin Genet 36 : 459-462. 1989
|
| 32 | LYP
|
| Chromosome deletion of Xq25 in an individual With X-linked lymphoproliferative disease.
|
| Wyandt HE, et al.
|
| Am J Med Genet 33 : 426-430. 1989
|
| 33 | LYP
|
| Genetics of the X-linked lymphoproliferative syndrome.
|
| Skare J, et al.
|
| Am J Hum Genet 45 : A161. 1989
|
| 34 | DXS208, DXS51, DXS90, LYP
|
| X-linked lymphoproliferative disease : linkage studies using DNA probes.
|
| Harris A, et al.
|
| Clin Genet 33 : 162-168. 1988
|
| 35 | LYP
|
| Mapping the X-linked lymphoproliferative syndrome.
|
| Skare JC, et al.
|
| Proc Natl Acad Sci U S A 84 : 2015-2018. 1987
|
| 36 | LYP
|
| Variable phenotypic expression of an X-linked recessive lymphoproliferative syndrome.
|
| Purtilo DT, et al.
|
| N Engl J Med 297 : 1077-1081. 1977
|