Issue 5/2014
Content (11 Articles)
A Novel Splice Site Mutation in the SERPING1 Gene Leads to Haploinsufficiency by Complete Degradation of the Mutant Allele mRNA in a Case of Familial Hereditary Angioedema
Roger Colobran, Ricardo Pujol-Borrell, Manuel Hernández-González, Mar Guilarte
Cytokines in Common Variable Immunodeficiency as Signs of Immune Dysregulation and Potential Therapeutic Targets – A Review of the Current Knowledge
Farnaz Najmi Varzaneh, Bärbel Keller, Susanne Unger, Asghar Aghamohammadi, Klaus Warnatz, Nima Rezaei
Secondary Hemophagocytic Lymphohistiocytosis (HLH) from a Presumed Brown Recluse Spider Bite
Christopher Dandoy, Michael Grimley
IgG4- Related Disease as a Rare Cause of Tubulointerstitial Nephritis
Lennard Y. W. Lee, Hsiu Yap, Steve Sampson, Brian Ford, Grant Hayman, James Marsh, Amolak S. Bansal
RAG1 Reversion Mosaicism in a Patient with Omenn Syndrome
Elena Crestani, Sharon Choo, Francesco Frugoni, Yu Nee Lee, Stephanie Richards, Joanne Smart, Luigi D Notarangelo
The Effects of Bruton Tyrosine Kinase Inhibition on Chemotaxis and Superoxide Generation in Human Neutrophils
Arnon Broides, Nurit Hadad, Jacov Levy, Rachel Levy
Disturbed B and T cell homeostasis and neogenesis in patients with ataxia telangiectasia
Matan Kraus, Atar Lev, Amos J. Simon, Inbal Levran, Andrea Nissenkorn, Yonit B. Levi, Yackov Berkun, Ori Efrati, Ninette Amariglio, Gideon Rechavi, Raz Somech
Reduced BAFF-R and Increased TACI Expression in Common Variable Immunodeficiency
Rita R. Barbosa, Susana L. Silva, Sara P. Silva, Alcinda C. Melo, M. Conceição Pereira-Santos, João T. Barata, Lennart Hammarström, Marília Cascalho, Ana E. Sousa
Clinical and Genetic Characterization of Japanese Sporadic Cases of Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis Syndrome from a Single Medical Center in Japan
Kazuo Kubota, Hidenori Ohnishi, Takahide Teramoto, Norio Kawamoto, Kimiko Kasahara, Osamu Ohara, Naomi Kondo
Elevated Double Negative T Cells in Pediatric Autoimmunity
James A. Tarbox, Molly P. Keppel, Nermina Topcagic, Charles Mackin, Miriam Ben Abdallah, Kevin W. Baszis, Andrew J. White, Anthony R. French, Megan A. Cooper
Erratum to: Intact IFN-γR1 Expression and Function Distinguishes Langerhans Cell Histiocytosis From Mendelian Susceptibility to Mycobacterial Disease
Willemijn T. Quispel, Janine A. Stegehuis-Kamp, Susy J. Santos, Annelies van Wengen, Edward Dompeling, R. Maarten Egeler, Esther van de Vosse, Astrid G. S. van Halteren