Ausgabe 3/2020
Inhalt (15 Artikel)
T Cell Impairment Is Predictive for a Severe Clinical Course in NEMO Deficiency
Stephanie Heller, Uwe Kölsch, Thomas Magg, Renate Krüger, Andrea Scheuern, Holm Schneider, Anna Eichinger, Volker Wahn, Nadine Unterwalder, Myriam Lorenz, Klaus Schwarz, Christian Meisel, Ansgar Schulz, Fabian Hauck, Horst von Bernuth
Deep Intronic Mutation in SERPING1 Caused Hereditary Angioedema Through Pseudoexon Activation
Pavla Hujová, Přemysl Souček, Lucie Grodecká, Hana Grombiříková, Barbora Ravčuková, Pavel Kuklínek, Roman Hakl, Jiří Litzman, Tomáš Freiberger
A Prevalent CXCR3+ Phenotype of Circulating Follicular Helper T Cells Indicates Humoral Dysregulation in Children with Down Syndrome
Giorgio Ottaviano, Jolanda Gerosa, Micaela Santini, Pasqualina De Leo, Andrea Vecchione, Tatiana Jofra, Cristiana Trimarchi, Maurizio De Pellegrin, Massimo Agosti, Alessandro Aiuti, Maddalena Marinoni, Maria Pia Cicalese, Georgia Fousteri
Retrospective Analysis of a New York Newborn Screen Severe Combined Immunodeficiency Referral Center
Melissa D. Gans, Tatyana Gavrilova
Invasive Saprochaete capitata Infection in a Patient with Autosomal Recessive CARD9 Deficiency and a Review of the Literature
Baran Erman, Sinem Fırtına, Başak Adaklı Aksoy, Selime Aydogdu, Gonca Erköse Genç, Öner Doğan, Ceyhun Bozkurt, Tunç Fışgın, Funda Erol Çipe
Genetic, Immunological, and Clinical Features of the First Mexican Cohort of Patients with Chronic Granulomatous Disease
Lizbeth Blancas-Galicia, Eros Santos-Chávez, Caroline Deswarte, Quentin Mignac, Isabel Medina-Vera, Ximena León-Lara, Manon Roynard, Selma C Scheffler-Mendoza, Ricardo Rioja-Valencia, Alexandra Alvirde-Ayala, Saul O Lugo Reyes, Tamara Staines-Boone, Jorge García-Campos, Omar J Saucedo-Ramírez, Blanca E Del-Río_Navarro, Antonio Zamora-Chávez, Arturo López-Larios, Susana García-Pavón-Osorio, Eugenia Melgoza-Arcos, María R Canseco-Raymundo, Dolores Mogica-Martínez, Marco Venancio-Hernández, Daniel Pacheco-Rosas, Sigifredo Pedraza-Sánchez, Martha Guevara-Cruz, Federico Saracho-Weber, Berenise Gámez-González, Guillermo Wakida-Kuzunoki, Ana R Morán-Mendoza, Ana P Macías-Robles, Roselia Ramírez-Rivera, Eugenia Vargas-Camaño, Carmen Zarate-Hernández, Héctor Gómez-Tello, Emmanuel Ramírez-Sánchez, Fredy Ruíz-Hernández, Domingo Ramos-López, Héctor Acuña-Martínez, María L García-Cruz, María G Román-Jiménez, Marina G González-Villarreal, Aristóteles Álvarez-Cardona, Beatriz A Llamas-Guillén, Jennifer Cuellar-Rodríguez, Alberto Olaya-Vargas, Nideshda Ramírez-Uribe, Stéphanie Boisson-Dupuis, Jean-Laurent Casanova, Francisco J Espinosa-Rosales, Jeanet Serafín-López, Marco Yamazaki-Nakashimada, Sara Espinosa-Padilla, Jacinta Bustamante
Lymphocyte Subgroups and KREC Numbers in Common Variable Immunodeficiency: A Single Center Study
Ismail Yaz, Begum Ozbek, Yuk Yin Ng, Pinar Gur Cetinkaya, Sevil Oskay Halacli, Cagman Tan, Merve Kasikci, Can Kosukcu, Ilhan Tezcan, Deniz Cagdas
Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency
Elina A. Tuovinen, Juha Grönholm, Tiina Öhman, Sakari Pöysti, Raine Toivonen, Anna Kreutzman, Kaarina Heiskanen, Luca Trotta, Sanna Toiviainen-Salo, John M. Routes, James Verbsky, Satu Mustjoki, Janna Saarela, Juha Kere, Markku Varjosalo, Arno Hänninen, Mikko R. J. Seppänen
Complement Activation in 22q11.2 Deletion Syndrome
Dina Grinde, Torstein Øverland, Kari Lima, Camilla Schjalm, Tom Eirik Mollnes, Tore G. Abrahamsen
Lymphoproliferative Disease in CVID: a Report of Types and Frequencies from a US Patient Registry
Elizabeth Yakaboski, Ramsay L. Fuleihan, Kathleen E. Sullivan, Charlotte Cunningham-Rundles, Elizabeth Feuille
X-Linked Hyper IgM Syndrome Presenting with Recurrent Tuberculosis—a Case Report
V. P. Krishnan, Prasad Taur, Ambreen Pandrowala, Manisha Madkaikar, Mukesh Desai
Cancer Tendency in a Patient with ZNF341 Deficiency
Sukru Cekic, Julia Maria Hartberger, Stefanie Frey-Jakobs, Huzeyfe Huriyet, Melika Bektas Hortoglu, Johanna Charlotte Neubauer, Yasin Karali, Candan Demiroz Abakay, Ozlem Saraydaroglu, Tolga Cavas, Bodo Grimbacher, Sara Sebnem Kilic
Biallelic Form of a Known CD3E Mutation in a Patient with Severe Combined Immunodeficiency
Baran Erman, Sinem Fırtına, Tunc Fışgın, Ceyhun Bozkurt, Funda Erol Çipe
Autoimmune Lymphoproliferative Syndrome Presenting with Invasive Streptococcus pneumoniae Infection
Eric Oksenhendler, András N. Spaan, Bénédicte Neven, Marie-Claude Stolzenberg, Mathieu Fusaro, Jean-Laurent Casanova, Frédéric Rieux-Laucat, Bertrand Boisson, Aude Magérus
Proceed with Caution: STAT1 GOF Diagnosis Missed Due to Intronic SNP
Laine M. Hosking, Alex Quach, Charlotte A. Slade, Melanie A. Galea, Stephanie Richards, Sharon Choo, Antonio Ferrante