Issue 5/2018
Content (13 Articles)
IKBA S32 Mutations Underlie Ectodermal Dysplasia with Immunodeficiency and Severe Noninfectious Systemic Inflammation
Kunihiko Moriya, Yoji Sasahara, Hidenori Ohnishi, Tomoki Kawai, Hirokazu Kanegane
Severe Congenital Neutropenia associated with SRP54 mutation in 22q11.2 Deletion Syndrome: Hematopoietic Stem Cell Transplantation Results in Correction of Neutropenia with Adequate Immune Reconstitution
Marcus A. Carden, James A. Connelly, Elizabeth P. Weinzierl, Lisa J. Kobrynski, Shanmuganathan Chandrakasan
Reflex Testing of Immunoglobulins in Patients with Total Serum IgE < 2 kU/L
Lisa Campisi, Tamara Forster, Mohammed Yousuf Karim
Transient Marked Increase of γδ T Cells in WHIM Syndrome After Successful HSCT
Yuta Kawahara, Yukiko Oh, Tamaki Kato, Kiyotaka Zaha, Akira Morimoto
Renal Disease in Chronic Granulomatous Disease: Data from the USIDNET Registry
Keith A. Sacco, Elizabeth Garabedian, Kathleen E. Sullivan, Avni Y. Joshi
The Autoimmune Lymphoproliferative Syndrome with Defective FAS or FAS-Ligand Functions
Frédéric Rieux-Laucat, Aude Magérus-Chatinet, Bénédicte Neven
Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment
Isabelle Meyts, Ivona Aksentijevich
The Treatment of Inflammatory Bowel Disease in Patients with Selected Primary Immunodeficiencies
Dror S. Shouval, Matthew Kowalik, Scott B. Snapper
Utility of Ruxolitinib in a Child with Chronic Mucocutaneous Candidiasis Caused by a Novel STAT1 Gain-of-Function Mutation
Markéta Bloomfield, Veronika Kanderová, Zuzana Paračková, Petra Vrabcová, Michael Svatoň, Eva Froňková, Martina Fejtková, Radana Zachová, Michal Rataj, Irena Zentsová, Tomáš Milota, Adam Klocperk, Tomáš Kalina, Anna Šedivá
Biweekly Hizentra® in Primary Immunodeficiency: a Multicenter, Observational Cohort Study (IBIS)
Alessandra Vultaggio, Chiara Azzari, Silvia Ricci, Baldassarre Martire, Valentina Palladino, Vera Gallo, Antonio Pecoraro, Claudio Pignata, Giuseppe Spadaro, Simona Graziani, Viviana Moschese, Antonino Trizzino, Giorgio Maria Boggia, Andrea Matucci
Clearing Vaccine-Derived Poliovirus Infection Following Hematopoietic Stem Cell Transplantation: a Case Report and Review of Literature
Mohammadreza Shaghaghi, Mona Irannejad, Hassan Abolhassani, Shohreh Shahmahmoodi, Amir Ali Hamidieh, Saeed Soleyman-Jahi, Reza Yazdani, Gholamreza Azizi, Asghar Aghamohammadi
A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency
Jérémie Rosain, Carmen Oleaga-Quintas, Caroline Deswarte, Hannah Verdin, Stéphane Marot, Garyfallia Syridou, Mahboubeh Mansouri, S. Alireza Mahdaviani, Edna Venegas-Montoya, Maria Tsolia, Mehrnaz Mesdaghi, Liudmyla Chernyshova, Yuriy Stepanovskiy, Nima Parvaneh, Davood Mansouri, Sigifredo Pedraza-Sánchez, Anastasia Bondarenko, Sara E. Espinosa-Padilla, Marco A. Yamazaki-Nakashimada, Alejandro Nieto-Patlán, Gaspard Kerner, Nathalie Lambert, Corinne Jacques, Emilie Corvilain, Mélanie Migaud, Virginie Grandin, María T. Herrera, Fabienne Jabot-Hanin, Stéphanie Boisson-Dupuis, Capucine Picard, Patrick Nitschke, Anne Puel, Frederic Tores, Laurent Abel, Lizbeth Blancas-Galicia, Elfride De Baere, Christine Bole-Feysot, Jean-Laurent Casanova, Jacinta Bustamante
Low Rates of Poliovirus Antibodies in Primary Immunodeficiency Patients on Regular Intravenous Immunoglobulin Treatment
Beatriz T. Costa-Carvalho, Kathleen E. Sullivan, Patrícia M. Fontes, Fernanda Aimé-Nobre, Isabela G. S. Gonzales, Elaine S. Lima, Celso Granato, Maria Isabel de Moraes-Pinto