Ausgabe 3/2014
Inhalt (13 Artikel)
Dursun Syndrome Due to G6PC3 Gene Defect has a Fluctuating Pattern in All Blood Cell Lines
Rıza Köksal Özgül, Didem Yücel-Yılmaz, Ali Dursun
Fatal Pneumococcal Meningitis in a 7-Year-Old Girl with Interleukin-1 Receptor Activated Kinase Deficiency (IRAK-4) Despite Prophylactic Antibiotic and IgG Responses to Streptococcus Pneumoniae Vaccines
Brianna McKelvie, Karina Top, Christine McCusker, Duncan Letenyi, Thomas B. Issekutz, Andrew C. Issekutz
Mutations in PIK3CD Can Cause Hyper IgM Syndrome (HIGM) Associated with Increased Cancer Susceptibility
M. C. Crank, J. K. Grossman, S. Moir, S. Pittaluga, C. M. Buckner, L. Kardava, A. Agharahimi, H. Meuwissen, J. Stoddard, J. Niemela, H. Kuehn, S. D. Rosenzweig
Antibody Deficiency Secondary to Chronic Lymphocytic Leukemia: Should Patients be Treated with Prophylactic Replacement Immunoglobulin?
Fatima Dhalla, Mary Lucas, Anna Schuh, Malini Bhole, Rashmi Jain, Smita Y. Patel, Siraj Misbah, Helen Chapel
Good’s Syndrome and Pure White Cell Aplasia Complicated by Cryptococcus Infection: A Case Report and Review of the Literature
K. Akinosoglou, M. Melachrinou, D. Siagris, E. Koletsis, M. Marangos, C. A. Gogos, E. E. Solomou
Newborn Screening for SCID in New York State: Experience from the First Two Years
Beth H. Vogel, Vincent Bonagura, Geoffrey A. Weinberg, Mark Ballow, Jason Isabelle, Lisa DiAntonio, April Parker, Allison Young, Charlotte Cunningham-Rundles, Chin-To Fong, Jocelyn Celestin, Heather Lehman, Arye Rubinstein, Subhadra Siegel, Leonard Weiner, Carlos Saavedra-Matiz, Denise M. Kay, Michele Caggana
Severe Combined Immunodeficiency in Serbia and Montenegro Between Years 1986 and 2010: A Single-Center Experience
Srdjan Pasic, Dragana Vujic, Dobrila Veljković, Bojana Slavkovic, Marija Mostarica-Stojkovic, Predrag Minic, Aleksandra Minic, Goran Ristic, Silvia Giliani, Anna Villa, Cristina Sobacchi, Desa Lilić, Mario Abinun
Patients with Primary Immunodeficiencies in Pediatric Intensive Care Unit: Outcomes and Mortality-Related Risk Factors
Çağlar Ödek, Tanıl Kendirli, Figen Doğu, Ayhan Yaman, Göksel Vatansever, Funda Çipe, Şule Haskoloğlu, Can Ateş, Erdal İnce, Aydan İkincioğulları
Rapid Flow Cytometric Prenatal Diagnosis of Primary Immunodeficiency (PID) Disorders
Anju Mishra, Maya Gupta, Aparna Dalvi, Kanjaksha Ghosh, Manisha Madkaikar
Screening of Neonatal UK Dried Blood Spots Using a Duplex TREC Screening Assay
Stuart P. Adams, Samina Rashid, Tharindu Premachandra, Katie Harvey, Adeboye Ifederu, Melanie C. Wilson, H. Bobby Gaspar
Very Early Onset Inflammatory Bowel Disease Associated with Aberrant Trafficking of IL-10R1 and Cure by T Cell Replete Haploidentical Bone Marrow Transplantation
Dhaarini Murugan, Michael H. Albert, Jörg Langemeier, Jens Bohne, Jacek Puchalka, Päivi M. Järvinen, Fabian Hauck, Anne K. Klenk, Christine Prell, Stephanie Schatz, Jana Diestelhorst, Barbara Sciskala, Naschla Kohistani, Bernd H. Belohradsky, Susanna Müller, Thomas Kirchner, Mark R. Walter, Philip Bufler, Aleixo M. Muise, Scott B. Snapper, Sibylle Koletzko, Christoph Klein, Daniel Kotlarz
Altered miRNAs Expression Profiles and Modulation of Immune Response Genes and Proteins During Neonatal Sepsis
Jiande Chen, Siyuan Jiang, Yun Cao, Yi Yang