Ausgabe 1/2014
Inhalt (18 Artikel)
Measurement of Pneumococcal Polysaccharide Vaccine Responses for Immunodeficiency Diagnostics: Combined IgG Responses Compared to Serotype Specific IgG Responses
Willemijn J. M. Janssen, Andries C. Bloem, Perijne Vellekoop, Gertjan J. Driessen, Marianne Boes, Joris M. van Montfrans
Compound Heterozygous RAG2 Mutations Mimicking Hyper IgM Syndrome
A. G. L. Riccetto, M. Buzolin, J. F. Fernandes, F. Traina, M. L. R. Barjas-de-Castro, M. T. N. Silva, J. B. Oliveira, M. M. Vilela
Attending to Warning Signs of Primary Immunodeficiency Diseases Across the Range of Clinical Practice
Beatriz Tavares Costa-Carvalho, Anete Sevciovic Grumach, José Luis Franco, Francisco Javier Espinosa-Rosales, Lily E. Leiva, Alejandra King, Oscar Porras, Liliana Bezrodnik, Mathias Oleastro, Ricardo U. Sorensen, Antonio Condino-Neto
Ocular Involvement in Primary Immunodeficiency Diseases
Sima Hosseinverdi, Hassan Hashemi, Asghar Aghamohammadi, Hans D. Ochs, Nima Rezaei
Psychrobacter immobilis Septicemia in a Boy with X-linked Chronic Granulomatous Disease and Fulminant Hepatic Failure
Panida Sriaroon, Araceli Elizalde, Elena E. Perez, Jennifer W. Leiding, Grace M. Aldrovandi, John W. Sleasman
Phenotypic Variations of Cartilage Hair Hypoplasia: Granulomatous Skin Inflammation and Severe T Cell Immunodeficiency as Initial Clinical Presentation in Otherwise Well Child with Short Stature
Liza J. McCann, Jo McPartland, Dawn Barge, Lisa Strain, David Bourn, Eduardo Calonje, Julian Verbov, Andrew Riordan, George Kokai, Chris M. Bacon, Michael Wright, Mario Abinun
Sporothrix schenckii Lymphadentitis in a Male with X-linked Chronic Granulomatous Disease
Jessica R. Trotter, Panida Sriaroon, David Berman, Aleksandra Petrovic, Jennifer W. Leiding
Allogeneic Bone Marrow Transplantation Appears to Ameliorate IgA Nephropathy in a Patient with X-linked Thrombocytopenia
Akihiro Hoshino, Masaki Shimizu, Hiroyoshi Matsukura, Hisano Sakaki-Nakatsubo, Keiko Nomura, Toshio Miyawaki, Hirokazu Kanegane
Chronic Granulomatous Disease: Two Decades of Experience From a Tertiary Care Centre in North West India
Amit Rawat, Surjit Singh, Deepti Suri, Anju Gupta, Biman Saikia, Ranjana Walker Minz, Shobha Sehgal, Kim Vaiphei, C. Kamae, K. Honma, N. Nakagawa, K. Imai, S. Nonoyama, K. Oshima, N. Mitsuiki, O. Ohara, Koon-Wing Chan, Yu Lung Lau
Activity, Severity and Impact of Respiratory Disease in Primary Antibody Deficiency Syndromes
John R. Hurst, Sarita Workman, Davinder S. Garcha, Suranjith L. Seneviratne, Jamanda A. Haddock, Bodo Grimbacher
Novel SMARCAL1 Bi-allelic Mutations Associated with a Chromosomal Breakage Phenotype in a Severe SIOD Patient
Amos J. Simon, Atar Lev, Marta Jeison, Zvi U. Borochowitz, David Korn, Yaniv Lerenthal, Raz Somech
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
Increased Circulating Th17 Cell Populations and Elevated CSF Osteopontin and IL-17 Concentrations in Patients with Guillain-Barré Syndrome
Rong kun Han, Yue feng Cheng, Shan shan Zhou, Hong Guo, Rui dong He, Li jun Chi, Li ming Zhang
Clinical and Genetic Profile of Children with Periodic Fever Syndromes from a Single Medical Center in South East Michigan
Shanmuganathan Chandrakasan, Saurabh Chiwane, Matthew Adams, Basil M. Fathalla
Terminal Deletion of 11q with Significant Late-Onset Combined Immune Deficiency
Mikko Seppänen, Hannele Koillinen, Satu Mustjoki, Mölkänen Tomi, Kathleen E. Sullivan
Renal Amyloidosis in a Patient with X-linked Agammaglobulinemia (Bruton’s Disease) and Bronchiectasis
M. A. Gonzalo-Garijo, S. Sánchez-Vega, R. Pérez-Calderón, I. Pérez-Rangel, S. Corrales-Vargas, J. J. Fernández de Mera, R. Robles
Intermittent Neutropenia as an Early Feature of Mild Mevalonate Kinase Deficiency
Nima Parvaneh, Vahid Ziaee, Mohammad-Hassan Moradinejad, Isabelle Touitou