Ausgabe 1/2020
Inhalt (28 Artikel)
Conversations with Founders of the Field of Human Inborn Errors of Immunity
Rebecca H. Buckley
Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee
Stuart G. Tangye, Waleed Al-Herz, Aziz Bousfiha, Talal Chatila, Charlotte Cunningham-Rundles, Amos Etzioni, Jose Luis Franco, Steven M. Holland, Christoph Klein, Tomohiro Morio, Hans D. Ochs, Eric Oksenhendler, Capucine Picard, Jennifer Puck, Troy R. Torgerson, Jean-Laurent Casanova, Kathleen E. Sullivan
Correction to: Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee
Stuart G. Tangye, Waleed Al-Herz, Aziz Bousfiha, Talal Chatila, Charlotte Cunningham-Rundles, Amos Etzioni, Jose Luis Franco, Steven M. Holland, Christoph Klein, Tomohiro Morio, Hans D. Ochs, Eric Oksenhendler, Capucine Picard, Jennifer Puck, Troy R. Torgerson, Jean-Laurent Casanova, Kathleen E. Sullivan
Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification
Aziz Bousfiha, Leila Jeddane, Capucine Picard, Waleed Al-Herz, Fatima Ailal, Talal Chatila, Charlotte Cunningham-Rundles, Amos Etzioni, Jose Luis Franco, Steven M Holland, Christoph Klein, Tomohiro Morio, Hans D. Ochs, Eric Oksenhendler, Jennifer Puck, Troy R. Torgerson, Jean-Laurent Casanova, Kathleen E. Sullivan, Stuart G. Tangye
Molecular and Phenotypic Characterization of Nine Patients with STAT1 GOF Mutations in China
Xuemei Chen, Qiling Xu, Xiaolin Li, Linlin Wang, Lu Yang, Zhi Chen, Ting Zeng, Xiuhong Xue, Tao Xu, Yanping Wang, Yanjun Jia, Qin Zhao, Junfeng Wu, Fangfang Liang, Xuemei Tang, Jun Yang, Yunfei An, Xiaodong Zhao
Genetic Approaches for Definitive Diagnosis of Agammaglobulinemia in Consanguineous Families
Meriem Ben-Ali, Nadia Kechout, Najla Mekki, Jing Yang, Koon Wing Chan, Abdelhamid Barakat, Zahra Aadam, Jouda Gamara, Lamia Gargouri, Beya Largueche, Nabil BelHadj-Hmida, Amel Nedri, Houcine Ben Ameur, Fethi Mellouli, Rachida Boukari, Mohamed Bejaoui, Aziz Bousfiha, Imen Ben-Mustapha, Yu-Lung Lau, Mohamed-Ridha Barbouche
Defining Polysaccharide Antibody Deficiency: Measurement of Anti-Pneumococcal Antibodies and Anti-Salmonella typhi Antibodies in a Cohort of Patients with Recurrent Infections
Giorgia Bucciol, Heidi Schaballie, Rik Schrijvers, Barbara Bosch, Marijke Proesmans, Kris De Boeck, Mieke Boon, François Vermeulen, Natalie Lorent, Doreen Dillaerts, Bjørn Kantsø, Charlotte Svaerke Jørgensen, Marie-Paule Emonds, Xavier Bossuyt, Leen Moens, Isabelle Meyts
STING-Associated Vasculopathy with Onset in Infancy in Three Children with New Clinical Aspect and Unsatisfactory Therapeutic Responses to Tofacitinib
Xiaolei Tang, Hui Xu, Chunju Zhou, Yun Peng, Hui Liu, Jinrong Liu, Huimin Li, Haiming Yang, Shunying Zhao
The Broad Clinical Spectrum and Transplant Results of PNP Deficiency
Yael Dinur Schejter, Ehud Even-Or, Bella Shadur, Adeeb NaserEddin, Polina Stepensky, Irina Zaidman
Low-Dose Pioglitazone does not Increase ROS Production in Chronic Granulomatous Disease Patients with Severe Infection
Xiaoying Hui, Danru Liu, Wenjie Wang, Jia Hou, Wenjing Ying, Qinhua Zhou, Haili Yao, Jinqiao Sun, Xiaochuan Wang
BCG Moreau Vaccine Safety Profile and NK Cells—Double Protection Against Disseminated BCG Infection in Retrospective Study of BCG Vaccination in 52 Polish Children with Severe Combined Immunodeficiency
Ewa Bernatowska, Małgorzta Skomska-Pawliszak, Beata Wolska-Kuśnierz, Małgorzata Pac, Edyta Heropolitanska-Pliszka, Barbara Pietrucha, Katarzyna Bernat-Sitarz, Nel Dąbrowska-Leonik, Nadia Bohynikova, Barbara Piątosa, Anna Lutyńska, Ewa Augustynowicz, Ewa Augustynowicz-Kopeć, Maria Korzeniewska-Koseła, Maria Krasińska, Katarzyna Krzysztopa-Grzybowska, Anna Wieteska-Klimczak, Janusz Książyk, Teresa Jackowska, Mirjam van den Burg, Jacques J. M. van Dongen, Jean-Laurent Casanova, Capucine Picard, Bożena Mikołuć
MiR-608 Exerts Anti-inflammatory Effects by Targeting ELANE in Monocytes
Wei Gu, Dalin Wen, Hongxiang Lu, Anqiang Zhang, Haiyan Wang, Juan Du, Ling Zeng, Jianxin Jiang
Prophylactic Antibiotics Versus Immunoglobulin Replacement in Specific Antibody Deficiency
Joud Hajjar, An L. Nguyen, Gregory Constantine, Carleigh Kutac, Maha N. Syed, Jordan S. Orange, Kathleen E. Sullivan
Mutual alteration of NOD2-associated Blau syndrome and IFNγR1 deficiency
Zuzana Parackova, Marketa Bloomfield, Petra Vrabcova, Irena Zentsova, Adam Klocperk, Tomas Milota, Michael Svaton, Jean-Laurent Casanova, Jacinta Bustamante, Eva Fronkova, Anna Sediva
Immune Dysregulation in the Tonsillar Microenvironment of Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis (PFAPA) Syndrome
Irene Luu, Anukriti Sharma, Marisela Guaderrama, Michelle Peru, Javan Nation, Nathan Page, Daniela Carvalho, Anthony Magit, Wen Jiang, Shelby Leuin, Morgan Bliss, Marcella Bothwell, Matthew Brigger, Donald Kearns, Robert Newbury, Seth Pransky, Jack A. Gilbert, Lori Broderick
NAPDH Oxidase-Specific Flow Cytometry Allows for Rapid Genetic Triage and Classification of Novel Variants in Chronic Granulomatous Disease
Keith A. Sacco, Matthew J. Smith, Sami L. Bahna, David Buchbinder, Joshua Burkhardt, Megan A. Cooper, Nicholas L. Hartog, Lisa Kobrynski, Kiran P. Patel, Roshini S. Abraham
Should MASP-2 Deficiency Be Considered a Primary Immunodeficiency? Relevance of the Lectin Pathway
M. Isabel García-Laorden, Elisa Hernández-Brito, Carmen Muñoz-Almagro, Svetlana Pavlovic-Nesic, Iñigo Rúa-Figueroa, M. Luisa Briones, Olga Rajas, Luis Borderías, Antoni Payeras, Leonardo Lorente, Jordi Freixinet, Jose Ferreres, Ignacio Obando, Nereida González-Quevedo, Felipe Rodríguez de Castro, Jordi Solé-Violán, Carlos Rodríguez-Gallego
A Large Cohort of RAG1/2-Deficient SCID Patients—Clinical, Immunological, and Prognostic Analysis
Noa Greenberg-Kushnir, Yu Nee Lee, Amos J. Simon, Atar Lev, Nufar Marcus, Omar Abuzaitoun, Raz Somech, Tali Stauber
Unreported Missense Mutation in the Dimerization Domain of ADA2 Leads to ADA2 Deficiency Associated with Severe Oral Ulcers and Neutropenia in a Female Somalian Patient—Addendum to the Genotype-Phenotype Puzzle
Lisa Göschl, Stefan Winkler, Jasmin Dmytrus, Raul Jimenez Heredia, Heimo Lagler, Michael Ramharter, Clemens Scheinecker, Michael Bonelli, Klaus Schmetterer, Winfried F. Pickl, Katharina Grabmeier-Pfistershammer, Michael S. Hershfield, Kaan Boztug, Elisabeth Förster-Waldl, Guido A. Gualdoni
Compound Heterozygous PGM3 Mutations in a Thai Patient with a Specific Antibody Deficiency Requiring Monthly IVIG Infusions
Chupong Ittiwut, Wiparat Manuyakorn, Siraprapa Tongkobpetch, Suwat Benjaponpitak, Megan R. Fisher, Joshua D. Milner, Jonathan J. Lyons, Kanya Suphapeetiporn, Vorasuk Shotelersuk
A New Patient with Inherited TYK2 Deficiency
Shokouh Azam Sarrafzadeh, Maryam Mahloojirad, Jean-Laurent Casanova, Mohsen Badalzadeh, Jacinta Bustamante, Stephanie Boisson-Dupuis, Zahra Pourpak, Maryam Nourizadeh, Mostafa Moin
Novel Missense Mutation in SP110 Associated with Combined Immunodeficiency and Advanced Liver Disease Without VOD
Ottavia M. Delmonte, Fabian Baldin, Nadia Ovchinsky, Florian Marquardsen, Mike Recher, Luigi D. Notarangelo, Slawomir M. Kosinski
Successful Treatment of a Patient with Chronic Systemic Capillary Leak Syndrome, Neutropenia and Thymoma
Rohit R. Ghurye, Asim Khan, Timothy Yung, Sorena Kiani-Alikhan, Debasish Pyne, Sofia Grigoriadou
TTC7A Variants Previously Described to Cause Enteropathy Are Observed on a Single Haplotype and Appear Non-pathogenic in Pediatric Inflammatory Bowel Disease Patients
James J. Ashton, Enrico Mossotto, R. Mark Beattie, Sarah Ennis
Extended Follow-up After Hematopoietic Cell Transplantation for IκBα Deficiency with Disseminated Mycobacterium avium Infection
Sara P. Seghezzo, Christopher C. Dvorak, Morton J. Cowan, Jennifer M. Puck, Morna J. Dorsey
2019 Clinical Immunology Society Compensation Survey
Kelli W. Williams, Morgan Derby, Monica G. Lawrence