Herpes simplex virus encephalitis in human UNC-93B deficiency. Export

@article{citeulike:2475689, abstract = {Herpes simplex virus-1 (HSV-1) encephalitis (HSE) is the most common form of sporadic viral encephalitis in western countries. Its pathogenesis remains unclear, as it affects otherwise healthy patients and only a small minority of HSV-1-infected individuals. Here, we elucidate a genetic etiology for HSE in two children with autosomal recessive deficiency in the intracellular protein UNC-93B, resulting in impaired cellular interferon-alpha/beta and -lambda antiviral responses. HSE can result from a single-gene immunodeficiency that does not compromise immunity to most pathogens, unlike most known primary immunodeficiencies. Other severe infectious diseases may also reflect monogenic disorders of immunity.}, address = {Laboratoire de G\'{e}n\'{e}tique Humaine des Maladies Infectieuses, Universit\'{e} de Paris Ren\'{e} Descartes, INSERM, U550, Facult\'{e} de M\'{e}decine Necker, Paris 75015, France.}, author = {Casrouge, A. and Zhang, S. Y. and Eidenschenk, C. and Jouanguy, E. and Puel, A. and Yang, K. and Alcais, A. and Picard, C. and Mahfoufi, N. and Nicolas, N. and Lorenzo, L. and Plancoulaine, S. and S\'{e}n\'{e}chal, B. and Geissmann, F. and Tabeta, K. and Hoebe, K. and Du, X. and Miller, R. L. and H\'{e}ron, B. and Mignot, C. and de Villemeur, T. B. and Lebon, P. and Dulac, O. and Rozenberg, F. and Beutler, B. and Tardieu, M. and Abel, L. and Casanova, J. L.}, citeulike-article-id = {2475689}, citeulike-linkout-0 = {http://dx.doi.org/10.1126/science.1128346}, citeulike-linkout-1 = {http://view.ncbi.nlm.nih.gov/pubmed/16973841}, citeulike-linkout-2 = {http://www.hubmed.org/display.cgi?uids=16973841}, day = {13}, doi = {10.1126/science.1128346}, issn = {1095-9203}, journal = {Science}, keywords = {encephalitis, hsv}, month = {October}, number = {5797}, pages = {308--312}, posted-at = {2008-03-05 22:49:29}, priority = {2}, title = {Herpes simplex virus encephalitis in human UNC-93B deficiency.}, url = {http://dx.doi.org/10.1126/science.1128346}, volume = {314}, year = {2006} }

TY - JOUR ID - citeulike:2475689 L3 - citeulike-article-id:2475689 N2 - Herpes simplex virus-1 (HSV-1) encephalitis (HSE) is the most common form of sporadic viral encephalitis in western countries. Its pathogenesis remains unclear, as it affects otherwise healthy patients and only a small minority of HSV-1-infected individuals. Here, we elucidate a genetic etiology for HSE in two children with autosomal recessive deficiency in the intracellular protein UNC-93B, resulting in impaired cellular interferon-alpha/beta and -lambda antiviral responses. HSE can result from a single-gene immunodeficiency that does not compromise immunity to most pathogens, unlike most known primary immunodeficiencies. Other severe infectious diseases may also reflect monogenic disorders of immunity. IS - 5797 JF - Science SN - 1095-9203 AD - Laboratoire de Génétique Humaine des Maladies Infectieuses, Université de Paris René Descartes, INSERM, U550, Faculté de Médecine Necker, Paris 75015, France. EP - 312 TI - Herpes simplex virus encephalitis in human UNC-93B deficiency. VL - 314 SP - 308 KW - encephalitis KW - hsv AU - Casrouge, A AU - Zhang, SY AU - Eidenschenk, C AU - Jouanguy, E AU - Puel, A AU - Yang, K AU - Alcais, A AU - Picard, C AU - Mahfoufi, N AU - Nicolas, N AU - Lorenzo, L AU - Plancoulaine, S AU - Sénéchal, B AU - Geissmann, F AU - Tabeta, K AU - Hoebe, K AU - Du, X AU - Miller, RL AU - Héron, B AU - Mignot, C AU - de Villemeur, TB AU - Lebon, P AU - Dulac, O AU - Rozenberg, F AU - Beutler, B AU - Tardieu, M AU - Abel, L AU - Casanova, JL PY - 2006/10/13/ UR - http://dx.doi.org/10.1126/science.1128346 ER -