Issue 4/2018
Content (20 Articles)
The International Alliance of Primary Immune Deficiency Societies
Andrew R. Gennery, Roshini S. Abraham, Troy R. Torgerson, Amos Etzioni, Andrew J. Cant, Isabelle Meyts, James Chipeta, Ahmed Aziz Bousfiha, Tandakha D. Dieye, Antonio Condino-Neto, Francisco Espinosa, Liliana Besrodnik, Yu-Lung Lau, Surjit Singh, Godfrey C. F. Chan, Jordan S. Orange, Andrew R. Gennery, Amos Etzioni, Andrew J. Cant, Isabelle Meyts, Roshini S. Abraham, Troy R. Torgerson, Jordan S. Orange, James Chipeta, Ahmed Aziz Bousfiha, Tandakha D. Dieye, Antonio Condino-Neto, Francisco Espinosa, Liliana Besrodnik, Yu-Lung Lau, Surjit Singh, Godfrey C. F. Chan
Antinuclear Antibody-Positive Juvenile Idiopathic Arthritis Despite IRAK-4 Deficiency
Boris Hügle, Norman Händel, Klaus Schwarz, Michael Borte, Volker Schuster
Disseminated Cutaneous Warts in X-Linked Hyper IgM Syndrome
Hsi-en Ho, Minji Byun, Charlotte Cunningham-Rundles
First Identification of an Inherited TPSAB1 Quintuplication in a Patient with Clonal Mast Cell Disease
Vito Sabato, Jack Chovanec, Margaretha Faber, Joshua D. Milner, Didier Ebo, Jonathan J. Lyons
Autosomal Dominant IFN-γR1 Deficiency Presenting with both Atypical Mycobacteriosis and Tuberculosis in a BCG-Vaccinated South African Patient
Brigitte Glanzmann, Marlo Möller, Marcela Moncada-Velez, Jonny Peter, Michael Urban, Paul D. van Helden, Eileen G. Hoal, Nikola de Villiers, Richard H. Glashoff, Rina Nortje, Jacinta Bustamante, Laurent Abel, Jean-Laurent Casanova, Stephanie Boisson-Dupuis, Monika Esser, Craig J. Kinnear
Treatment of Intracerebral Lesions with Abatacept in a CTLA4-Haploinsufficient Patient
Ester M. van Leeuwen, Eloy Cuadrado, Anke M. Gerrits, Esther Witteveen, Godelieve J. de Bree
Aortic Calcification in a Patient with a Gain-of-Function STAT1 Mutation
Anna E. Smyth, Epp Kaleviste, Aisling Snow, Kai Kisand, Colin J. McMahon, Andrew J. Cant, T. Ronan Leahy
Novel LRBA Mutation and Possible Germinal Mosaicism in a Slavic Family
Svetlana O. Sharapova, Emma Haapaniemi, Inga S. Sakovich, Jessica Rojas, Laura Gámez-Díaz, Yuliya E. Mareika, Irina E. Guryanova, Alexandr A. Migas, Taisiya M. Mikhaleuskaya, Bodo Grimbacher, Olga V. Aleinikova
Cerebral Lymphoproliferation in a Patient with Kabuki Syndrome
Antonio Marzollo, Davide Colavito, Stefano Sartori, Giuseppe Nicolò Fanelli, Maria Caterina Putti
Dual Threat of Epstein-Barr Virus: an Autopsy Case Report of HIV-Positive Plasmablastic Lymphoma Complicating EBV-Associated Hemophagocytic Lymphohistiocytosis
Yusuke Koizumi, Ken-Ichi Imadome, Yasunori Ota, Hitoshi Minamiguchi, Yoshinori Kodama, Dai Watanabe, Hiroshige Mikamo, Tomoko Uehira, Seiji Okada, Takuma Shirasaka
ADA Deficiency: Evaluation of the Clinical and Laboratory Features and the Outcome
Deniz Cagdas, Pınar Gur Cetinkaya, Betül Karaatmaca, Saliha Esenboga, Cagman Tan, Togay Yılmaz, Ersin Gümüş, Safa Barış, Barış Kuşkonmaz, Tuba Turul Ozgur, Pawan Bali, Ines Santisteban, Diclehan Orhan, Aysel Yüce, Duygu Cetinkaya, Kaan Boztug, Michael Hershfield, Ozden Sanal, İlhan Tezcan
Insights into Mutation Effect in Three Poikiloderma with Neutropenia Patients by Transcript Analysis and Disease Evolution of Reported Patients with the Same Pathogenic Variants
Elisa A. Colombo, Nursel H. Elcioglu, Claudio Graziano, Pamela Farinelli, Elisabetta Di Fede, Iria Neri, Elena Facchini, Mariangela Greco, Cristina Gervasini, Lidia Larizza
Rapid Push vs Pump-Infused Subcutaneous Immunoglobulin Treatment: a Randomized Crossover Study of Quality of Life in Primary Immunodeficiency Patients
Boris Bienvenu, Grégoire Cozon, Yves Mataix, Dominique Lachaud, Antoine Alix, Cyrille Hoarau, Daniel Antier, Eric Hachulla, Sylvie Brice, Jean-François Viallard, Stéphanie Tamisier, Anne-Laure Fauchais, Françoise Renon-Carron, Pierre Clerson, Yann Fardini, Jean-Charles Crave, Pierre Miossec
Lethal Influenza in Two Related Adults with Inherited GATA2 Deficiency
Ithaisa Sologuren, María Teresa Martínez-Saavedra, Jordi Solé-Violán, Edgar de Borges de Oliveira Jr, Eva Betancor, Inmaculada Casas, Carmen Oleaga-Quintas, Mónica Martínez-Gallo, Shen-Ying Zhang, Jose Pestano, Roger Colobran, Estefanía Herrera-Ramos, Carmen Pérez, Marta López-Rodríguez, José Juan Ruiz-Hernández, Nieves Franco, José María Ferrer, Cristina Bilbao, Miguel Andújar-Sánchez, Mercedes Álvarez Fernández, Michael J. Ciancanelli, Felipe Rodríguez de Castro, Jean-Laurent Casanova, Jacinta Bustamante, Carlos Rodríguez-Gallego
T+ NK+ IL-2 Receptor γ Chain Mutation: a Challenging Diagnosis of Atypical Severe Combined Immunodeficiency
Polina Stepensky, Baerbel Keller, Oded Shamriz, Caroline von Spee-Mayer, David Friedmann, Bella Shadur, Susanne Unger, Sebastian Fuchs, Adeeb NaserEddin, Nisreen Rumman, Sara Amro, Vered Molho Pessach, Omar Abuzaitoun, Raz Somech, Orly Elpeleg, Stephan Ehl, Klaus Warnatz
Correction to: Raised Serum IL-8 Levels Are Associated with Excessive Fatigue in Female Carriers of X-Linked Chronic Granulomatous Disease in the UK
Alexandra C. Battersby, Alexander J. Martin, Jessica Tarn, W. F. Ng, Catherine M. Cale, David Goldblatt, Andrew R. Gennery
Correction to: Circulating T Cells of Patients with Nijmegen Breakage Syndrome Show Signs of Senescence
Ruud W. J. Meijers, Katarzyna Dzierzanowska-Fangrat, Magdalena Zborowska, Iwona Solarska, Dennis Tielemans, Bob A. C. van Turnhout, Gertjan Driessen, Mirjam van der Burg, Jacques J. M. van Dongen, Krystyna H. Chrzanowska, Anton W. Langerak
Correction to: Assessment of Local Adverse Reactions to Subcutaneous Immunoglobulin (SCIG) in Clinical Trials
Mark Ballow, Richard L. Wasserman, Stephen Jolles, Helen Chapel, Mel Berger, Siraj A. Misbah
Correction to: Use of Genetic Testing for Primary Immunodeficiency Patients
Jennifer R. Heimall, David Hagin, Joud Hajjar, Sarah E. Henrickson, Hillary S. Hernandez-Trujillo, Yuval Itan, Lisa Kobrynski, Kenneth Paris, Troy R. Torgerson, James W. Verbsky, Richard L. Wasserman, Elena W. Y. Hsieh, Jack J. Bleesing, Janet S. Chou, Monica G. Lawrence, Rebecca A. Marsh, Sergio D. Rosenzweig, Jordan S. Orange, Roshini S. Abraham