Issue 5/2020
Content (16 Articles)
An Update on XMEN Disease
Juan C. Ravell, Samuel D. Chauvin, Tingyan He, Michael Lenardo
A Systematic Review and Meta-regression Analysis on the Impact of Increasing IgG Trough Level on Infection Rates in Primary Immunodeficiency Patients on Intravenous IgG Therapy
Jian Lynn Lee, Noraida Mohamed Shah, Mohd Makmor-Bakry, Farida Hanim Islahudin, Hamidah Alias, Lokman Mohd Noh, Shamin Mohd Saffian
Thinking Beyond HLH: Clinical Features of Patients with Concurrent Presentation of Hemophagocytic Lymphohistiocytosis and Thrombotic Microangiopathy
Nicholas J. Gloude, Christopher E. Dandoy, Stella M. Davies, Kasiani C. Myers, Michael B. Jordan, Rebecca A. Marsh, Ashish Kumar, Jack Bleesing, Ashley Teusink-Cross, Sonata Jodele
Incidence of SCID in Germany from 2014 to 2015 an ESPED* Survey on Behalf of the API*** Erhebungseinheit für Seltene Pädiatrische Erkrankungen in Deutschland (German Paediatric Surveillance Unit) ** Arbeitsgemeinschaft Pädiatrische Immunologie
Sonu Shai, Ruy Perez-Becker, Oliver Andres, Shahrzad Bakhtiar, Ulrich Bauman, Horst von Bernuth, Carl-Friedrich Classen, Gregor Dückers, Sabine M. El-Helou, Andrea Gangfuß, Sujal Ghosh, Bodo Grimbacher, Fabian Hauck, Manfred Hoenig, Ralf A. Husain, Gerhard Kindle, Florian Kipfmueller, Christian Klemann, Renate Krüger, Elke Lainka, Kai Lehmberg, Florens Lohrmann, Henner Morbach, Nora Naumann-Bartsch, Prasad Thomas Oommen, Ansgar Schulz, Kathrin Seidemann, Carsten Speckmann, Karl-Walter Sykora, Rüdiger von Kries, Tim Niehues
Prognostic Value of Blood-Based Inflammatory Biomarkers in Secondary Hemophagocytic Lymphohistiocytosis
Jiayu Huang, Guangli Yin, Limin Duan, Tian Tian, Ji Xu, Jujuan Wang, Xin Gao, Wanying Cheng, Lingling Liu, Hongxia Qiu
Whole-Exome Sequencing-Based Approach for Germline Mutations in Patients with Inborn Errors of Immunity
Tsubasa Okano, Kohsuke Imai, Takuya Naruto, Satoshi Okada, Motoi Yamashita, Tzu-wen Yeh, Shintaro Ono, Keisuke Tanaka, Keisuke Okamoto, Kay Tanita, Kazuaki Matsumoto, Etsushi Toyofuku, Eri Kumaki-Matsumoto, Miko Okamura, Hiroo Ueno, Seishi Ogawa, Osamu Ohara, Masatoshi Takagi, Hirokazu Kanegane, Tomohiro Morio
Haploinsufficiency of A20 Due to Novel Mutations in TNFAIP3
Tingyan He, Yanyan Huang, Ying Luo, Yu Xia, LinLin Wang, Huan Zhang, Jiayun Ling, Jun Yang
Chronic Granulomatous Disease with the McLeod Phenotype: a French National Retrospective Case Series
Faustine Lhomme, Thierry Peyrard, Jérôme Babinet, Wadih Abou-Chahla, Isabelle Durieu, Despina Moshous, Bénédicte Neven, Pierre-Simon Rohrlich, Souha Albinni, Denise Amiranoff, Marie-Dominique Dumont, Olivier Lortholary, Sébastien Héritier, Christophe Marguet, Felipe Suarez, Alain Fischer, Stéphane Blanche, Olivier Hermine, Nizar Mahlaoui
The Clinical Immunogenomics Research Consortium Australasia (CIRCA): a Distributed Network Model for Genomic Healthcare Delivery
Tri Giang Phan, Paul E. Gray, Melanie Wong, Rebecca Macintosh, Leslie Burnett, Stuart G. Tangye
Anti-GM-CSF Autoantibodies and Cryptococcus neoformans var. grubii CNS Vasculitis
Segolene Perrineau, Romain Guery, Delphine Monnier, Anne Puel, Fanny Lanternier
The Konya Declaration for Patients with Primary Immunodeficiencies
László Maródi, Hassan Abolhassani, Asghar Aghamohamaddi, Tadej Avcin, Mihaela Bataneant, Mikhail Belevtsev, Ewa Bernatowska, Mikhael Bolkov, Anastasiia Bondarenko, Oksana Boyarchuk, Zafer Caliskaner, Liudmyla Chernyshova, Peter Ciznar, Aisha El-Marsafy, Melinda Erdős, Nermeen Galal, Ioan Gherghina, Marina Guseva, Sevan Iritsyan, Vlora Ismaili-Jaha, Zhanat Ispaeva, Jadranka Kelecic, Sevgi Keles, Irina Kondratenko, Larysa Kostyuchenko, Elena Kovzel, Georgina Kuli-Lito, Natalja Kurjane, István Lázár, Jiri Litzman, Branko Lutovac, Vafa Mammadova, Garper Markelj, Radovan Mijanovic, Noémi Miltner, Kristina Mironska, Velma Mulaosmanovich, Mariana Murdjeva, Umida Nabieva, Elissaveta Naumova, Gulnara Nashrullayeva, Malgorzata Pac, Karaman Pagava, Srdjan Pasic, Alexander Pischalnikov, Tatjana Prokofjeva, Ismail Reisli, Nima Rezaei, Krista Ress, Inga Sakovich, Ihor Savchak, Svetlana Sciuca, Anna Sediva, Margit Serban, Svetlana Sharapova, Brigita Sitkauskiene, Malgosia Skomska, Irina Snimschchikova, Shquipe Spahiu-Konjusha, Miklós Szolnoky, Beáta Tóth, Areg Totolian, Galina Tsyvkina, Irina Tuzankina, Alla Volokha
Everolimus-Induced Remission of Classic Kaposi’s Sarcoma Secondary to Cryptic Splicing Mediated CTLA4 Haploinsufficiency
Jin Yan Yap, Brian Gloss, Marcel Batten, Peter Hsu, Lucinda Berglund, Fenfen Cai, Pei Dai, Andrew Parker, Min Qiu, Wendell Miley, Romin Roshan, Vickie Marshall, Denise Whitby, Eric Wegman, Roger Garsia, Kathy H.C. Wu, Edwin Kirk, Mark Polizzotto, Elissa K. Deenick, Stuart G. Tangye, Cindy S. Ma, CIRCA, Tri Giang Phan
Successful Artery Embolization in a Patient with Autoimmune Lymphoproliferative Syndrome Associated with Splenic Rupture
Kensaku Kohrogi, Masahiro Migita, Tadashi Anan, Takeshi Sugahara, Kazuhiko Yoshimoto, Hirokazu Kanegane, Kimitoshi Nakamura
The Association of Fetal Thymus Size with Subsequent T Cell Counts in 22q11.2 Deletion Syndrome
Ying Dou, Erica Schindewolf, T. Blaine Crowley, Donna McDonald McGinn, Julie S. Moldenhauer, Beverly Coleman, Edward R. Oliver, Kathleen E. Sullivan
Correction to: A 1-Year Prospective French Nationwide Study of Emergency Hospital Admissions in Children and Adults with Primary Immunodeficiency
Hélène Coignard-Biehler, Nizar Mahlaoui, Benoit Pilmis, Vincent Barlogis, Pauline Brosselin, Nathalie De Vergnes, Marianne Debré, Marion Malphettes, Pierre Frange, Emilie Catherinot, Isabelle Pellier, Isabelle Durieu, Antoinette Perlat, Bruno Royer, Alain Le Quellec, Eric Jeziorski, Alain Fischer, Olivier Lortholary, Laurent Aaron+, Daniel Adoue, Claire Aguilar, Nathalie Aladjidi, Alexandre Alcais, Zahir Amoura, Philippe Arlet, Corinne Armari-Alla, Brigitte Bader-Meunier, Sophie Bayart, Yves Bertrand, Boris Bienvenu, Stéphane Blanche, Damien Bodet, Bernard Bonnotte, Raphaël Borie, Patrick Boutard, Claire Briandet, Jean-Paul Brion, Jacques Brouard, Sarah Cohen-Beaussant, Laurence Costes, Louis-Jean Couderc, Pierre Cougoul, Virginie Courteille, Geneviève de Saint Basile, Catherine Devoldere, Anne Deville, Jean Donadieu, Eric Dore, Fabienne Dulieu, Christine Edan, Natacha Entz-Werle, Claire Fieschi, Amandine Forestier, Fanny Fouyssac, Vincent Gajdos, Lionel Galicier, Virginie Gandemer, Martine Gardembas, Catherine Gaud, Gaelle Guillerm, Eric Hachulla, Mohamed Hamidou, Olivier Hermine, Cyrille Hoarau, Sébastien Humbert, Arnaud Jaccard, Serge Jacquot, Jean-Philippe Jais, Roland Jaussaud, Pierre-Yves Jeandel, Kamila Kebaili, Anne-Sophie Korganow, Olivier Lambotte, Fanny Lanternier, Claire Larroche, Anne-Sophie Lascaux, Emmanuelle Le Moigne, Vincent Le Moing, Yvon Lebranchu, Marc Lecuit, Guillaume Lefevre, Richard Lemal, Valérie Li Thiao Te, Aude Marie-Cardine, Nicolas Martin Silva, Agathe Masseau, Christian Massot, Françoise Mazingue, Etienne Merlin, Gérard Michel, Frédéric Millot, Béatrice Monlibert, Fabrice Monpoux, Despina Moshous, Luc Mouthon, Martine Munzer, Bénédicte Neven, Raphaëlle Nove-Josserand, Eric Oksenhendler, Marie Ouachée-Chardin, Caroline Oudot, Anne Pagnier, Jean-Louis Pasquali, Marlène Pasquet, Yves Perel, Capucine Picard, Christophe Piguet, Dominique Plantaz, Johan Provot, Pierre Quartier, Frédéric Rieux-Laucat, Pascal Roblot, Pierre-Marie Roger, Pierre-Simon Rohrlich, Hervé Rubie, Valéry Salle, Françoise Sarrot-Reynauld, Amélie Servettaz, Jean-Louis Stephan, Nicolas Schleinitz, Felipe Suarez, Laure Swiader, Sophie Taque, Caroline Thomas, Olivier Tournilhac, Caroline Thumerelle, François Tron, Jean-Pierre Vannier, Jean-François Viallard
Correction to: 2020 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference
Tatiana Kalashnikova, Nicola Wright, Julian Midgley, Francois Bernier, Joanne Luider, Luis Murguia-Favela