Perforin gene (PRF1) mutations cause the primary form of hemophagocytic lymphohistiocytosis (HLH). We report a genetic defect of PRF1 in a 62-year-old Japanese man with recurrent episodes of HLH. Sequencing of PRF1 from both peripheral blood mononuclear cells and nail clippings showed compound heterozygous mutation, including deletion of two base pairs at codons 1090 and 1091 (1090-1091delCT) a...

(2 + f(n)) [599]. 1 [642, 1201, 524]. 2 [526, 1036, 1273, 1251, 1236, 81]. 2 [612]. 3 [493, 872, 1761, 1036, 842, 1039, 639]. 5 [1422]. (2,128) [522]. ∗ [409]. 2 [314]. ] [117]. st [1039]. TM [1337]. PASS [785]. Z [738]. β [290]. δ [91]. ` [1181]. Fq [526]. k [1487, 1181, 440, 1235, 917, 426, 640, 648, 916, 624, 501, 846]. λ [290]. m [540]. q [94]. K [765]. μ [797]. n [540, 652]. n− 3 [652]. O(...

We have designed and tested economical large-area RF strip-line anodes made by silk-screening silver onto inexpensive plate glass, for use in microchannel plate photodetectors to provide measurements of time, position, integrated charge, and pulse waveform shapes. The 229-mm-long anodes are modular, and can be attached in series for economy in electronics channel-count. Measurements of the anod...

A case of hypersensitivity pneumonitis (HP) induced by hexamethylene diisocyanate (HDI) is described. Serial determinations of the lymphocyte surface phenotypes by two-color assay revealed the following: 1) increased activated cytotoxic T lymphocytes in the bronchoalveolar lavage fluid (BALF), and 2) increased percentage and absolute number of non-major histo compatibility complex (MHC)-restric...

Rapid intercontinental air pollution transport associated with a meteorological bomb A. Stohl, H. Huntrieser, A. Richter, S. Beirle, O. Cooper, S. Eckhardt, C. Forster, P. James, N. Spichtinger, M. Wenig, T. Wagner, J. Burrows, and U. Platt Department of Ecology, Technical University of Munich, Germany Institute for Atmospheric Physics, DLR, Oberpfaffenhofen, Germany Institute of Environmental ...

Data from studies of 916 children with diarrhea, including 122 from whom shigellae were isolated, and data on patients affected in an epidemic due to Shigella dysenteriae type I were analyzed to determine whether a diagnostic clinical profile of shigellosis could be identified. Blood and/or mucus in stool, increased frequency of stool, abdominal pain, rectal tenesmus, and fever were noted more ...

INTRODUCTION ......................................................................................893 I. AVENUES FOR ESTABLISHING A CIVIL GIDEON ................................898 A. Judicial Strategies ............................................................. 898 1. Federal Due Process Claims ...................................899 2. Federal Equal Protection Claims .........................

A review of our experience of 916 cases ofpartial bilateral vasectomy performed under local anaesthesia at the University Hospital, Kuala Lumpur during the period between January 1971 and June 1980 is presented. Minor post-operative complications occurred in 5.8% of cases with a low post-operative infection rate of 1.2%. In 35% ofpatients, persistence of non-motile sperms in the semen were seen...