Maternal onset de novo SH2D1A mutation and lymphocytic choriomeningitis virus infection in a patient with X‑linked lymphoproliferative disease type 1: A case report

Hislop AD, Palendira U, Leese AM, et al: Impaired Epstein-Barr virus-specific CD8+ T-cell function in X-linked lymphoproliferative disease is restricted to SLAM family-positive B-cell targets. Blood. 116:3249–3257. 2010. View Article : Google Scholar : PubMed/NCBI

Booth C, Gilmour KC, Veys P, et al: X-linked lymphoproliferative disease due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease. Blood. 117:53–62. 2011. View Article : Google Scholar

Markoulatos P, Georgopoulou A, Kotsovassilis C, Karabogia-Karaphillides P and Spyrou N: Detection and typing of HSV-1, HSV-2 and VZV by a multiplex polymerase chain reaction. J Clin Lab Anal. 14:214–219. 2000. View Article : Google Scholar

Pozo F and Tenorio A: Detection and typing of lymphotropic herpesviruses by multiplex polymerase chain reaction. J Virol Methods. 79:9–19. 1999. View Article : Google Scholar : PubMed/NCBI

McCausland MM and Crotty S: Quantitative PCR technique for detecting lymphocytic choriomeningitis virus in vivo. J Virol Methods. 147:167–176. 2008. View Article : Google Scholar :

Morra M, Simarro-Grande M, Martin M, et al: Characterization of SH2D1A missense mutations identified in X-linked lymphoproliferative disease patients. J Biol Chem. 276:36809–36816. 2001. View Article : Google Scholar : PubMed/NCBI

Coffey AJ, Brooksbank RA, Brandau O, et al: Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene. Nat Genet. 20:129–135. 1998. View Article : Google Scholar : PubMed/NCBI

Arico M, Imashuku S, Clementi R, et al: Hemophagocytic lymphohistiocytosis due to germline mutations in SH2D1A, the X-linked lymphoproliferative disease gene. Blood. 97:1131–1133. 2001. View Article : Google Scholar : PubMed/NCBI

Roach JC, Glusman G, Smit AF, et al: Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science. 328:636–639. 2010. View Article : Google Scholar : PubMed/NCBI

Eyre-Walker A and Keightley PD: High genomic deleterious mutation rates in hominids. Nature. 397:344–347. 1999. View Article : Google Scholar : PubMed/NCBI

Lindhurst MJ, Sapp JC, Teer JK, et al: A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med. 365:611–619. 2011. View Article : Google Scholar : PubMed/NCBI

Riera L, Castillo E, Del Carmen Saavedra M, et al: Serological study of the lymphochoriomeningitis virus (LCMV) in an inner city of Argentina. J Med Virol. 76:285–289. 2005. View Article : Google Scholar : PubMed/NCBI

Al-Zein N, Boyce TG, Correa AG and Rodriguez V: Meningitis caused by lymphocytic choriomeningitis virus in a patient with leukemia. J Pediatr Hematol Oncol. 30:781–784. 2008. View Article : Google Scholar : PubMed/NCBI

Fischer SA, Graham MB, Kuehnert MJ, et al; LCMV in Transplant Recipients Investigation Team. Transmission of lymphocytic choriomeningitis virus by organ transplantation. N Engl J Med. 354:2235–2249. 2006. View Article : Google Scholar : PubMed/NCBI

Wu C, Nguyen KB, Pien GC, et al: SAP controls T cell responses to virus and terminal differentiation of TH2 cells. Nat Immunol. 2:410–414. 2001. View Article : Google Scholar : PubMed/NCBI