TY - JOUR
T1 - Identification of a Novel Mutation in MAGT1 and Progressive Multifocal Leucoencephalopathy in a 58-Year-Old Man with XMEN Disease
AU - Dhalla, Fatima
AU - Murray, Sarah
AU - Sadler, Ross
AU - Chaigne-Delalande, Benjamin
AU - Sadaoka, Tomohiko
AU - Soilleux, Elizabeth
AU - Uzel, Gulbu
AU - Miller, Joanne
AU - Collins, Graham Peter
AU - Hatton, Christian Simon Ross
AU - Bhole, Malini
AU - Ferry, Berne
AU - Chapel, Helen M.
AU - Cohen, Jeffrey I.
AU - Patel, Smita Y.
N1 - Publisher Copyright:
© 2014, Springer Science+Business Media New York.
PY - 2015/3/7
Y1 - 2015/3/7
N2 - XMEN disease (X-linked immunodeficiency with Magnesium defect, Epstein-Barr virus infection and Neoplasia) is a novel primary immune deficiency caused by mutations in MAGT1 and characterised by chronic infection with Epstein-Barr virus (EBV), EBV-driven lymphoma, CD4 T-cell lymphopenia, and dysgammaglobulinemia [1]. Functional studies have demonstrated roles for magnesium as a second messenger in T-cell receptor signalling [1], and for NKG2D expression and consequently NK- and CD8 T-cell cytotoxicity [2]. 7 patients have been described in the literature; the oldest died at 45 years and was diagnosed posthumously [1–3]. We present the case of a 58-year-old Caucasian gentleman with a novel mutation in MAGT1 with the aim of adding to the phenotype of this newly described disease by detailing his clinical course over more than 20 years.
AB - XMEN disease (X-linked immunodeficiency with Magnesium defect, Epstein-Barr virus infection and Neoplasia) is a novel primary immune deficiency caused by mutations in MAGT1 and characterised by chronic infection with Epstein-Barr virus (EBV), EBV-driven lymphoma, CD4 T-cell lymphopenia, and dysgammaglobulinemia [1]. Functional studies have demonstrated roles for magnesium as a second messenger in T-cell receptor signalling [1], and for NKG2D expression and consequently NK- and CD8 T-cell cytotoxicity [2]. 7 patients have been described in the literature; the oldest died at 45 years and was diagnosed posthumously [1–3]. We present the case of a 58-year-old Caucasian gentleman with a novel mutation in MAGT1 with the aim of adding to the phenotype of this newly described disease by detailing his clinical course over more than 20 years.
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U2 - 10.1007/s10875-014-0116-2
DO - 10.1007/s10875-014-0116-2
M3 - Article
C2 - 25504528
AN - SCOPUS:84925536233
SN - 0271-9142
VL - 35
SP - 112
EP - 118
JO - Journal of Clinical Immunology
JF - Journal of Clinical Immunology
IS - 2
ER -