Ausgabe 4/2020
Inhalt (18 Artikel)
The Growing Spectrum of Human Diseases Caused by InheritedCDC42 Mutations
Helen C. Su, Jordan S. Orange
Infantile Myelofibrosis and Myeloproliferation with CDC42 Dysfunction
Jeffrey M. Verboon, Dilnar Mahmut, Ah Ram Kim, Mitsutoshi Nakamura, Nour J. Abdulhay, Satish K. Nandakumar, Namrata Gupta, Thomas E. Akie, Amy E. Geddis, Becky Manes, Meghan E. Kapp, Inga Hofmann, Stacey B. Gabriel, Daryl E. Klein, David A. Williams, Haydar A. Frangoul, Susan M. Parkhurst, Genevieve M. Crane, Alan B. Cantor, Vijay G. Sankaran
Systemic Inflammation and Myelofibrosis in a Patient with Takenouchi-Kosaki Syndrome due to CDC42 Tyr64Cys Mutation
Giorgia Bucciol, Bethany Pillay, Jose Casas-Martin, Selket Delafontaine, Marijke Proesmans, Natalie Lorent, Johan Coolen, Thomas Tousseyn, Xavier Bossuyt, Cindy S. Ma, Rik Schrijvers, Stuart G. Tangye, Leen Moens, Isabelle Meyts
A New Patient with NOCARH Syndrome Due to CDC42 Defect
Tingyan He, Yanyan Huang, Jiayun Ling, Jun Yang
European Society for Immunodeficiencies (ESID) and European Reference Network on Rare Primary Immunodeficiency, Autoinflammatory and Autoimmune Diseases (ERN RITA) Complement Guideline: Deficiencies, Diagnosis, and Management
Nicholas Brodszki, Ashley Frazer-Abel, Anete S. Grumach, Michael Kirschfink, Jiri Litzman, Elena Perez, Mikko R. J. Seppänen, Kathleen E. Sullivan, Stephen Jolles
Immunological and Clinical Phenotyping in Primary Antibody Deficiencies: a Growing Disease Spectrum
Junghee J. Shin, Daniel Liauw, Sabrina Siddiqui, Juhyeon Lee, Eun Jae Chung, Ryan Steele, Florence Ida Hsu, Christina Price, Insoo Kang
Health-Related Quality of Life and Multidimensional Fatigue Scale in Children with Primary Immunodeficiencies
Saida Ridao-Manonellas, Anna Fábregas-Bofill, Gloria Núñez-Rueda, Míriam González-Amores, Marina García-Prat, Laura López-Seguer, Jacques G. Rivière, Andrea Martín-Nalda, Natalia Mendoza-Palomar, Susana Melendo-Pérez, Pere Soler-Palacín
Urogenital Abnormalities in Adenosine Deaminase Deficiency
Roberta Pajno, Lucia Pacillo, Salvatore Recupero, Maria P. Cicalese, Francesca Ferrua, Federica Barzaghi, Silvia Ricci, Antonio Marzollo, Silvia Pecorelli, Chiara Azzari, Andrea Finocchi, Caterina Cancrini, Gigliola Di Matteo, Gianni Russo, Massimo Alfano, Arianna Lesma, Andrea Salonia, Stuart Adams, Claire Booth, Alessandro Aiuti
Failure to Prevent Severe Graft-Versus-Host Disease in Haploidentical Hematopoietic Cell Transplantation with Post-Transplant Cyclophosphamide in Chronic Granulomatous Disease
Mark Parta, Dianne Hilligoss, Corin Kelly, Nana Kwatemaa, Narda Theobald, Christa S. Zerbe, Steven M. Holland, Harry L. Malech, Elizabeth M. Kang
BCG-Related Inflammatory Syndromes in Severe Combined Immunodeficiency After TCRαβ+/CD19+ Depleted HSCT
Alexandra Laberko, Daria Yukhacheva, Yulia Rodina, Dmitriy Abramov, Dmitriy Konovalov, Svetlana Radygina, Larisa Shelikhova, Dmitry Pershin, Olga Kadnikova, Michael Maschan, Alexei Maschan, Dmitry Balashov, Anna Shcherbina
Homozygous IL1RN Mutation in Siblings with Deficiency of Interleukin-1 Receptor Antagonist (DIRA)
Vahid Ziaee, Leila Youssefian, Masoomeh Faghankhani, Ali Jazayeri, Amir Hossein Saeidian, Hassan Vahidnezhad, Jouni Uitto
The IL1RN Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic Because of a Reinitiation of Translation
Kunihiko Moriya, Saori Kadowaki, Tomohiro Nakano, Sanem E. Akarcan, Necil Kutukculer, Guzide Aksu, Yoji Sasahara, Shigeo Kure, Hidenori Ohnishi, Jean-Laurent Casanova, Anne Puel, Toshiyuki Fukao
Correction to: the IL1RN Mutation Creating the Most-Upstream Premature Stop Codon Is Hypomorphic because of a Reinitiation of Translation
Kunihiko Moriya, Saori Kadowaki, Tomohiro Nakano, Sanem E. Akarcan, Necil Kutukculer, Guzide Aksu, Yoji Sasahara, Shigeo Kure, Hidenori Ohnishi, Jean-Laurent Casanova, Anne Puel, Toshiyuki Fukao
Compound Heterozygous Mutations of IL12RB1 in a Patient with Selective Defects in Th17 Differentiation
Ming Liu, Bingtai Lu, Ping Zeng, Bing Huang, Yanhui Xu, Hanquan Liang, Diyuan Yang, Sida Yang, Hai-bin Luo, Andrew M. Lew, Seth L. Masters, Lanlan Geng, Huasong Zeng, Yuxia Zhang
Management of Chronic Immune Thrombocytopenia and Presumed Autoimmune Hepatitis in a Child with IKAROS Haploinsufficiency
Daniel J. Groth, Madhavi M. Lakkaraja, Johanna O. Ferreira, Elizabeth J. Feuille, Jennifer A. Bassetti, Shipra M. Kaicker
Novel Compound Heterozygote Variations in FADD Identified to Cause FAS-Associated Protein with Death Domain Deficiency
Lisa A. Kohn, Joseph D. Long, Edward C. Trope, Caroline Y. Kuo
Novel Pathogenic C2 Variant Associated with Disseminated GBS Infection
Emma C. Phillips, Monica Gupta, Rung-Chi Li, Julia K. Sohn, Monica G. Lawrence
A Case of STK4 Deficiency with Complications Evoking Mycobacterial Infection
Nesrine Radwan, Rasha El-Owaidy, Zeinab A. El-Sayed, Ashraf Abdel-Baky, Alaa El-Haddad, Hanaa Rashad, Eman Naguib Khorshed, Craig D. Platt, Jacqueline G. Wallace, Janet Chou, Elham Hossny, Shereen Medhat Reda