Issue 1/2015
Content (14 Articles)
Interaction of Pattern Recognition Receptors with Mycobacterium Tuberculosis
Esmaeil Mortaz, Ian M. Adcock, Payam Tabarsi, Mohammad Reza Masjedi, Davood Mansouri, Ali Akbar Velayati, Jean-Laurent Casanova, Peter J. Barnes
Gain of Function Mutations of PIK3CD as a Cause of Primary Sclerosing Cholangitis
Heather N. Hartman, Julie Niemela, Mary K. Hintermeyer, Mary Garofalo, Jennifer Stoddard, James W. Verbsky, Sergio D. Rosenzweig, John M. Routes
Hematopoietic Stem Cell Transplantation for X-Linked Thrombocytopenia With Mutations in the WAS gene
Koichi Oshima, Kohsuke Imai, Michael H. Albert, Tanja C. Bittner, Gabriele Strauss, Alexandra H. Filipovich, Tomohiro Morio, Neena Kapoor, Jignesh Dalal, Kirk R. Schultz, James T. Casper, Luigi D. Notarangelo, Hans D. Ochs, Shigeaki Nonoyama
Novel Patient with Late-Onset Familial Hemophagocytic Lymphohistiocytosis with STXBP2 Mutations Presenting with Autoimmune Hepatitis, Neurological Manifestations and Infections Associated with Hypogammaglobulinemia
Hossein Esmaeilzadeh, Mohammad Hasan Bemanian, Mohammad Nabavi, Saba Arshi, Morteza Fallahpour, Ilka Fuchs, Udo zur Stadt, Klaus Warnatz, Sandra Ammann, Stephan Ehl, Kai Lehmberg, Nima Rezaei
Severe XLP Phenotype Caused by a Novel Intronic Mutation in the SH2D1A Gene
B. Tóth, B. Soltész, E. Gyimesi, G. Csorba, Á. Veres, Á. Lányi, G. Kovács, L. Maródi, M. Erdős
Germline CARD11 Mutation in a Patient with Severe Congenital B Cell Lymphocytosis
Andrew S. Brohl, Jeffrey R. Stinson, Helen C. Su, Thomas Badgett, Chester D. Jennings, Gauthaman Sukumar, Sivasish Sindiri, Wei Wang, Lela Kardava, Susan Moir, Clifton L. Dalgard, Jeffrey A. Moscow, Javed Khan, Andrew L. Snow
Relationships Between Clinico-Epidemiological Patterns of Invasive Meningococcal Infections and Complement Deficiencies in French South Pacific Islands (New Caledonia)
Maguy Daures, Michele John, Cécile Veysseyre Balter, Olivier Simon, Yann Barguil, Isabelle Missotte, Jean-Paul Grangeon, Sylvie Laumond-Barny, Martine Noel, Laurent Besson-Leaud, Pierre-Emmanuel Spasic, Aurélie de Suremain, Ann-Claire Gourinat, Elodie Descloux
A Defective Oxidative Burst and Impaired Antigen Presentation are Hallmarks of Human Visceral Leishmaniasis
Susmita Roy, Debanjan Mukhopadhyay, Shibabrata Mukherjee, Susmita Ghosh, Shishir Kumar, Kumkum Sarkar, Dipankar Pal, Pratik Bhowmik, Kausik Mandal, Dolanchampa Modak, Subhasish Kamal Guha, Netai Pramanik, Rama Prosad Goswami, Bibhuti Saha, Mitali Chatterjee
Invariant Natural Killer T Cells are Reduced in Hereditary Hemochromatosis Patients
M. L. Maia, C. S. Pereira, G. Melo, I. Pinheiro, M. A. Exley, G. Porto, M. F. Macedo
Epidemiology of Primary Immunodeficiency in Iceland
Bjorn R. Ludviksson, Sigurveig T. Sigurdardottir, Johann Heidar Johannsson, Asgeir Haraldsson, Thorgeir O. Hardarson
Orf Infection in a Patient with Stat1 Gain-of-Function
Sara Sebnem Kilic, Anne Puel, Jean-Laurent Casanova
Dramatic Improvement in the Multifocal Positron Emission Tomography Findings of a Young Adult with Chronic Granulomatous Disease Following Allogeneic Hematopoietic Stem Cell Transplantation
Tomonari Shigemura, Yozo Nakazawa, Koichi Hirabayashi, Norimoto Kobayashi, Kazuo Sakashita, Kazunaga Agematsu, Kenichi Koike
Reversal of Immunoglobulin A Deficiency in Children
Che Kang Lim, Charlotte Dahle, Kerstin Elvin, Bengt A. Andersson, Johan Rönnelid, Erik Melén, Anna Bergström, Lennart Truedsson, Lennart Hammarström
Whole Genome Sequencing Reveals a Chromosome 9p Deletion Causing DOCK8 Deficiency in an Adult Diagnosed with Hyper IgE Syndrome Who Developed Progressive Multifocal Leukoencephalopathy
Aaron G. Day-Williams, Chao Sun, Ilijas Jelcic, Helen McLaughlin, Tim Harris, Roland Martin, John P. Carulli