Ausgabe 2/2019
Inhalt (16 Artikel)
A Novel Recessive Mutation of Interferon-γ Receptor 1 in a Patient with Mycobacterium tuberculosis in Bone Marrow Aspirate
Mahsima Shabani, Soheila Aleyasin, Sara Kashef, Samaneh Zoghi, Caroline Deswarte, Jean-Laurent Casanova, Jacinta Bustamante, Nima Rezaei
Compound Heterozygous Mutations of IL2-Inducible T cell Kinase in a Swedish Patient: the Importance of Early Genetic Diagnosis
Mingyan Fang, Hassan Abolhassani, Qiang Pan-Hammarström, Erik Sandholm, Xiao Liu, Lennart Hammarström
IFN-g:IL-10 Ratio: a Putative Predictive Biomarker to Discriminate HLH From Severe Viral Infections
Snehal Shabrish, Mukesh Desai, Vinay Saxena, Madhura Kelkar, Manisha Madkaikar
Auto-inflammation in a Patient with a Novel Homozygous OTULIN Mutation
Mohammad Nabavi, Mohammad Shahrooei, Hassan Rokni-Zadeh, Jeroen Vrancken, Majid Changi-Ashtiani, Kian Darabi, Mostafa Manian, Farhad Seif, Isabelle Meyts, Arnout Voet, Leen Moens, Xavier Bossuyt
In Memoriam: Fernando Aiuti, MD (June 8, 1935–January 9, 2019)
Alessandro Aiuti, Isabella Quinti
A Novel FOXN1 Variant Is Identified in Two Siblings with Nude Severe Combined Immunodeficiency
Sinem Firtina, Funda Cipe, Yuk Yin Ng, Ayca Kiykim, Ozden Hatirnaz Ng, Tugce Sudutan, Cigdem Aydogmus, Safa Baris, Gulyuz Ozturk, Elif Aydiner, Ahmet Ozen, Muge Sayitoglu
Immune Dysregulation and Disease Pathogenesis due to Activating Mutations in PIK3CD—the Goldilocks’ Effect
Stuart G. Tangye, Julia Bier, Anthony Lau, Tina Nguyen, Gulbu Uzel, Elissa K. Deenick
Health-Related Quality of Life in Patients with CVID Under Different Schedules of Immunoglobulin Administration: Prospective Multicenter Study
Federica Pulvirenti, Francesco Cinetto, Antonio Pecoraro, Maria Carrabba, Ludovica Crescenzi, Raffaella Neri, Livia Bonanni, Giovanna Fabio, Carlo Agostini, Giuseppe Spadaro, Stefano Tabolli, Albert Farrugia, Isabella Quinti, Cinzia Milito
Neurological Involvement in Childhood Evans Syndrome
Thomas Pincez, Bénédicte Neven, Hubert Ducou Le Pointe, Pascale Varlet, Helder Fernandes, Albane Gareton, Guy Leverger, Thierry Leblanc, Hervé Chambost, Gérard Michel, Marlène Pasquet, Frédéric Millot, Olivier Hermine, Alexis Mathian, Marie Hully, Hélène Zephir, Mohamed Hamidou, Jean-Marc Durand, Yves Perel, Judith Landman-Parker, Fréderic Rieux-Laucat, Nathalie Aladjidi
Haploidentical Stem Cell Transplantation with Post-Transplant Cyclophosphamide for Primary Immune Deficiency Disorders in Children: Challenges and Outcome from a Tertiary Care Center in South India
Ramya Uppuluri, Meena Sivasankaran, Shivani Patel, Venkateswaran Vellaichamy Swaminathan, Kesavan Melarcode Ramanan, Nikila Ravichandran, Balasubramaniam Ramakrishnan, Indira Jayakumar, Lakshman Vaidhyanathan, Revathi Raj
Novel Heterogeneous Mutation of TNFAIP3 in a Chinese Patient with Behçet-Like Phenotype and Persistent EBV Viremia
Xiaolong Dong, Luyao Liu, Ying Wang, Xiaotao Yang, Wenjie Wang, Li Lin, Bijun Sun, Jia Hou, Wenjing Ying, Xiaoying Hui, Qinhua Zhou, Danru Liu, Haili Yao, Jinqiao Sun, Xiaochuan Wang
Health-Related Quality of Life and Emotional Health in X-Linked Carriers of Chronic Granulomatous Disease in the United Kingdom
Alexandra C. Battersby, Helen Braggins, Mark S. Pearce, Fiona McKendrick, Mari Campbell, Siobhan Burns, Catherine M. Cale, David Goldblatt, Andrew R. Gennery
Severe Transitory Neonatal Neutropenia Associated with Maternal Autoimmune or Idiopathic Neutropenia
Julie Seguier, Vincent Barlogis, Laure Croisille, Marie Audrain, Mikael Ebbo, Blandine Beaupain, Benoit Meunier, Blandine Vallentin, Rodolphe Jean, Jean-Robert Harle, Jean Donadieu, Nicolas Schleinitz
Alternative Splicing Rescues Loss of Common Gamma Chain Function and Results in IL-21R-like Deficiency
David Illig, Marta Navratil, Jadranka Kelečić, Raffaele Conca, Iva Hojsak, Oleg Jadrešin, Marijana Ćorić, Jurica Vuković, Meino Rohlfs, Sebastian Hollizeck, Jens Bohne, Christoph Klein, Daniel Kotlarz
Nasal Nitric Oxide in Primary Immunodeficiency and Primary Ciliary Dyskinesia: Helping to Distinguish Between Clinically Similar Diseases
Zofia N. Zysman-Colman, Kimberley R. Kaspy, Reza Alizadehfar, Keith R. NyKamp, Maimoona A. Zariwala, Michael R. Knowles, Donald C. Vinh, Adam J. Shapiro
Correction to: Imaging of Bronchial Pathology in Antibody Deficiency: Data from the European Chest CT Group
Katharina Schütz, Diana Alecsandru, Bodo Grimbacher, Jamanda Haddock, Annemarie Bruining, Gertjan Driessen, Esther de Vries, Peter M. van Hagen, Ieneke Hartmann, Francesco Fraioli, Cinzia Milito, Milica Mitrevski, Isabella Quinti, Goffredo Serra, Peter Kelleher, Michael Loebinger, Jiri Litzman, Vera Postranecka, Vojtech Thon, Judith Babar, Alison M. Condliffe, Andrew Exley, Dinakantha Kumararatne, Nick Screaton, Alison Jones, Maria P Bondioni, Vassilios Lougaris, Alessandro Plebani, Annarosa Soresina, Cesare Sirignano, Giuseppe Spadaro, Nermeen Galal, Luis I. Gonzalez-Granado, Sabine Dettmer, Robert Stirling, Helen Chapel, Mary Lucas, Smita Patel, Claire-Michele Farber, Isabelle Meyts, Arpan K Banerjee, Scott Hackett, John R. Hurst, Klaus Warnatz, Benjamin Gathmann, Jürgen Weidemann, Daniel Berthold, Ulrich Baumann