Ausgabe 5/2016
Inhalt (18 Artikel)
Into Action: Improving Access to Optimum Care for all Primary Immunodeficiency Patients
Francisco J. Espinosa-Rosales, Antonio Condino-Neto, José L. Franco, Ricardo U. Sorensen
Immunodeficiency in a Child with 22q11.2 Microduplication Syndrome
Robyn Traynor, Karina M. Butler, Andrew J. Cant, Timothy Ronan Leahy
Hemophagocytic Lymphohistiocytosis as a Complication in Patients with MSMD
Rodolfo Muriel-Vizcaino, Marco Yamazaki-Nakashimada, Gabriela López-Herrera, Leopoldo Santos-Argumedo, Noé Ramírez-Alejo
A Difficult and Rare Diagnosis of Autoimmune Enteropathy in a Patient Affected by Down Syndrome
Anne Depince-Berger, Clara Cremilieux, Melanie Rinaudo-Gaujous, Christian Genin, Benedicte de Freminville, Claude Lambert, J. Bruneau, Stephane Paul
A Case of SLC29A3 Spectrum Disorder—Unresponsive to Multiple Immunomodulatory Therapies
Anoop Mistry, David Parry, Bipin Matthews, Philip Laws, Mark Goodfield, Sinisa Savic
Use of Thrombopoietin-Receptor Agonist in CVID-Associated Immune Thrombocytopenia
Maria Carrabba, Wilma Barcellini, Giovanna Fabio
Successful Haploidentical Stem Cell Transplantation with Post-Transplant Cyclophosphamide in a Severe Combined Immune Deficiency Patient: a First Report
Monia Ouederni, Fethi Mellouli, Monia Ben Khaled, Houda Kaabi, Capucine Picard, Mohamed Bejaoui
Health-Related Quality of Life and Health Resource Utilization in Patients with Primary Immunodeficiency Disease Prior to and Following 12 Months of Immunoglobulin G Treatment
John Routes, Beatriz Tavares Costa-Carvalho, Bodo Grimbacher, Kenneth Paris, Hans D. Ochs, Alexandra Filipovich, Mary Hintermeyer, Karina Mescouto de Melo, Sarita Workman, Diane Ito, Xiaolan Ye, Patrick Bonnet, Josephine Li-McLeod
Dominant Splice Site Mutations in PIK3R1 Cause Hyper IgM Syndrome, Lymphadenopathy and Short Stature
Slavé Petrovski, Roberta E. Parrott, Joseph L. Roberts, Hongxiang Huang, Jialong Yang, Balachandra Gorentla, Talal Mousallem, Endi Wang, Martin Armstrong, Duncan McHale, Nancie J. MacIver, David B. Goldstein, Xiao-Ping Zhong, Rebecca H. Buckley
Respiratory Health and Related Quality of Life in Patients with Congenital Agammaglobulinemia in the Northern Region of the UK
Branwen A. Bryan, Alex Battersby, Benjamin Martin James Shillitoe, Dawn Barge, Helen Bourne, Terry Flood, Andrew J. Cant, Catherine Stroud, Andrew R. Gennery
Successful Hematopoietic Stem Cell Transplantation in a Patient with LPS-Responsive Beige-Like Anchor (LRBA) Gene Mutation
Bianca Tesi, Peter Priftakis, Fredrik Lindgren, Samuel C. C. Chiang, Nikolaos Kartalis, Alexandra Löfstedt, Esther Lörinc, Jan-Inge Henter, Jacek Winiarski, Yenan T. Bryceson, Marie Meeths
Hyper IgM Syndrome: a Report from the USIDNET Registry
Emily A. Leven, Patrick Maffucci, Hans D. Ochs, Paul R. Scholl, Rebecca H. Buckley, Ramsay L. Fuleihan, Raif S. Geha, Coleen K. Cunningham, Francisco A. Bonilla, Mary Ellen Conley, Ronald M. Ferdman, Vivian Hernandez-Trujillo, Jennifer M. Puck, Kathleen Sullivan, Elizabeth A. Secord, Manish Ramesh, Charlotte Cunningham-Rundles
Switching Patients to Home-Based Subcutaneous Immunoglobulin: an Economic Evaluation of an Interprofessional Drug Therapy Management Program
Clemence Perraudin, Aline Bourdin, Francois Spertini, Jérôme Berger, Olivier Bugnon
The Potential and Limits of Hematopoietic Stem Cell Transplantation for the Treatment of Autosomal Dominant Hyper-IgE Syndrome
Masakatsu Yanagimachi, Takashi Ohya, Tomoko Yokosuka, Ryosuke Kajiwara, Fumiko Tanaka, Hiroaki Goto, Takehiro Takashima, Tomohiro Morio, Shumpei Yokota
Testing the Activity of Complement Convertases in Serum/Plasma for Diagnosis of C4NeF-Mediated C3 Glomerulonephritis
Anna M. Blom, Fernando Corvillo, Michal Magda, Grzegorz Stasiłojć, Pilar Nozal, Miguel Ángel Pérez-Valdivia, Virginia Cabello-Chaves, Santiago Rodríguez de Córdoba, Margarita López-Trascasa, Marcin Okrój
Erratum to: Chronic and Invasive Fungal Infections in a Family with CARD9 Deficiency
Ana Karina Alves de Medeiros, Evelyn Lodewick, Delfien J. A. Bogaert, Filomeen Haerynck, Sabine Van daele, Bart Lambrecht, Sara Bosma, Laure Vanderdonckt, Olivier Lortholary, Mélanie Migaud, Jean-Laurent Casanova, Anne Puel, Fanny Lanternier, Jo Lambert, Lieve Brochez, Melissa Dullaers
Erratum to: Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey
Tracy A. Briggs, Gillian I. Rice, Navid Adib, Lesley Ades, Stephane Barete, Kannan Baskar, Veronique Baudouin, Ayse N. Cebeci, Philippe Clapuyt, David Coman, Lien De Somer, Yael Finezilber, Moshe Frydman, Ayla Guven, Sébastien Heritier, Daniela Karall, Muralidhar L. Kulkarni, Pierre Lebon, David Levitt, Martine Le Merrer, Agnes Linglart, John H. Livingston, Vincent Navarro, Ericka Okenfuss, Anne Puel, Nicole Revencu, Sabine Scholl-Bürgi, Marina Vivarelli, Carine Wouters, Brigitte Bader-Meunier, Yanick J. Crow