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Zeitschrift

Journal of Clinical Immunology

Journal of Clinical Immunology 3/2020

Ausgabe 3/2020

Inhaltsverzeichnis ( 15 Artikel )

01.04.2020 | Original Article | Ausgabe 3/2020

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

25.01.2020 | Original Article | Ausgabe 3/2020

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

28.01.2020 | Original Article | Ausgabe 3/2020

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

29.01.2020 | Original Article | Ausgabe 3/2020

Retrospective Analysis of a New York Newborn Screen Severe Combined Immunodeficiency Referral Center

Melissa D. Gans, Tatyana Gavrilova

04.02.2020 | Original Article | Ausgabe 3/2020

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

10.02.2020 | Original Article | Ausgabe 3/2020

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

14.02.2020 | Original Article | Ausgabe 3/2020

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

19.02.2020 | Original Article | Ausgabe 3/2020 Open Access

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

09.03.2020 | Original Article | Ausgabe 3/2020 Open Access

Complement Activation in 22q11.2 Deletion Syndrome

Dina Grinde, Torstein Øverland, Kari Lima, Camilla Schjalm, Tom Eirik Mollnes, Tore G. Abrahamsen

17.03.2020 | Original Article | Ausgabe 3/2020

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

01.04.2020 | Letter to Editor | Ausgabe 3/2020

X-Linked Hyper IgM Syndrome Presenting with Recurrent Tuberculosis—a Case Report

V. P. Krishnan, Prasad Taur, Ambreen Pandrowala, Manisha Madkaikar, Mukesh Desai

24.01.2020 | Letter to Editor | Ausgabe 3/2020

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

04.02.2020 | Letter to Editor | Ausgabe 3/2020

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

06.03.2020 | Letter to Editor | Ausgabe 3/2020

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

07.03.2020 | Letter to Editor | Ausgabe 3/2020

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

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