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Zeitschrift

Journal of Clinical Immunology

Journal of Clinical Immunology 2/2020

Ausgabe 2/2020

Inhaltsverzeichnis ( 20 Artikel )

01.02.2020 | Original Article | Ausgabe 2/2020

ADA2 Deficiency: Case Series of Five Patients with Varying Phenotypes

Ayşe Tanatar, Şerife Gül Karadağ, Betül Sözeri, Hafize Emine Sönmez, Mustafa Çakan, Yasemin Kendir Demirkol, Nuray Aktay Ayaz

01.02.2020 | Original Article | Ausgabe 2/2020

Chest Radiographs for Distinguishing ADA-SCID from Other Forms of SCID

Martijn V. Verhagen, Valentina Trevisan, John Adu, Catherine M. Owens, Claire Booth, Alistair Calder

19.12.2019 | Original Article | Ausgabe 2/2020

A Germline Mutation in the C2 Domain of PLCγ2 Associated with Gain-of-Function Expands the Phenotype for PLCG2-Related Diseases

Taylor Novice, Amina Kariminia, Kate L. Del Bel, Henry Lu, Mehul Sharma, Chinten J. Lim, Jay Read, Mark Vander Lugt, Mark C. Hannibal, David O’Dwyer, Mirie Hosler, Thomas Scharnitz, Jason M Rizzo, Jennifer Zacur, John Priatel, Sayeh Abdossamadi, Alexandra Bohm, Anne Junker, Stuart E. Turvey, Kirk R. Schultz, Jacob Rozmus

20.12.2019 | Original Article | Ausgabe 2/2020 Open Access

Expanding Clinical Phenotype and Novel Insights into the Pathogenesis of ICOS Deficiency

Hassan Abolhassani, Yasser M. El-Sherbiny, Gururaj Arumugakani, Clive Carter, Stephen Richards, Dylan Lawless, Philip Wood, Matthew Buckland, Marzieh Heydarzadeh, Asghar Aghamohammadi, Sophie Hambleton, Lennart Hammarström, Siobhan O Burns, Rainer Doffinger, Sinisa Savic

20.12.2019 | Original Article | Ausgabe 2/2020

Health-Related Quality of Life and Emotional Difficulties in Chronic Granulomatous Disease: Data on Adult and Pediatric Patients from Italian Network for Primary Immunodeficiency (IPINet)

Federica Pulvirenti, Maria Sangerardi, Alessandro Plebani, Annarosa Soresina, Andrea Finocchi, Claudio Pignata, Emilia Cirillo, Antonino Trizzino, Alessandro Aiuti, Maddalena Migliavacca, Franco Locatelli, Alice Bertaina, Samuele Naviglio, Maria Carrabba, Marco De Carli, Maria Grazia Foschino Barbaro, Marco Gattorno, Isabella Quinti, Baldassarre Martire

21.12.2019 | Original Article | Ausgabe 2/2020

Diversity of XMEN Disease: Description of 2 Novel Variants and Analysis of the Lymphocyte Phenotype

Elizabeth M. Klinken, Paul E. Gray, Bethany Pillay, Lisa Worley, Emily S. J. Edwards, Kathryn Payne, Bruce Bennetts, Dorothy Hung, Ben A. Wood, Jonathan J. Chan, Glenn M. Marshall, Richard Mitchell, Gulbu Uzel, Cindy S. Ma, Stuart G. Tangye, Andrew McLean-Tooke

03.01.2020 | Original Article | Ausgabe 2/2020

Use of FEF25–75% to Guide IgG Dosing to Protect Pulmonary Function in CVID

Tracy Hwangpo, Zhixin Wang, Jack Ghably, Surya P. Bhatt, Xiangqin Cui, Harry W. Schroeder Jr

01.02.2020 | Original Article | Ausgabe 2/2020

Abnormal Newborn Screening Follow-up for Severe Combined Immunodeficiency in an Amish Cohort with Cartilage-Hair Hypoplasia

Ethan M. Scott, Sharat Chandra, Jinzhu Li, Eric D. Robinette, Miraides F. Brown, Olivia K. Wenger

08.01.2020 | Original Article | Ausgabe 2/2020

RP-HPLC-ESI-IT Mass Spectrometry Reveals Significant Variations of the Human Salivary Protein Profile Associated with Predominantly Antibody Deficiencies

Cristina Contini, Davide Firinu, Simone Serrao, Barbara Manconi, Alessandra Olianas, Francesco Cinetto, Fausto Cossu, Massimo Castagnola, Irene Messana, Stefano Del Giacco, Tiziana Cabras

09.01.2020 | Original Article | Ausgabe 2/2020

Pulmonary Disease Burden in Primary Immune Deficiency Disorders: Data from USIDNET Registry

Meera Patrawala, Ying Cui, Limin Peng, Ramsay L. Fuleihan, Elizabeth K. Garabedian, Kiran Patel, Lokesh Guglani

01.02.2020 | Original Article | Ausgabe 2/2020

Juvenile Onset Splenomegaly and Oculopathy Due to Germline Mutation in ALPK1

Linqing Zhong, Jun Wang, Wei Wang, Lin Wang, Meiying Quan, Xiaoyan Tang, Lijuan Gou, Min Wei, Juan Xiao, Tiannan Zhang, Ruifang Sui, Qing Zhou, Hongmei Song

15.01.2020 | Original Article | Ausgabe 2/2020

Inherited CARD9 Deficiency in a Patient with Both Exophiala spinifera and Aspergillus nomius Severe Infections

Laura Perez, Fernando Messina, Ricardo Negroni, Alicia Arechavala, Jacinta Bustamante, Matías Oleastro, Mélanie Migaud, Jean-Laurent Casanova, Anne Puel, Gabriela Santiso

01.02.2020 | Original Article | Ausgabe 2/2020 Open Access

Cytokine Autoantibodies Are Associated with Infection Risk and Self-Perceived Health: Results from the Danish Blood Donor Study

Jakob H. von Stemann, Ole B. Pedersen, Henrik Hjalgrim, Christian Erikstrup, Henrik Ullum, Lise W. Thørner, Margit AH. Larsen, Kristoffer S. Burgdorf, Erik Sørensen, Morten B. Hansen, Sisse R. Ostrowski

01.02.2020 | Original Article | Ausgabe 2/2020

E1021K Homozygous Mutation in PIK3CD Leads to Activated PI3K-Delta Syndrome 1

Yanping Wang, Xuemei Chen, Qiuyun Yang, Wenjing Tang, Yanjun Jia, Lina Zhou, Yunfei An, Zhiyong Zhang, Xuemei Tang, Xiaodong Zhao

01.02.2020 | Original Article | Ausgabe 2/2020

Human BCL10 Deficiency due to Homozygosity for a Rare Allele

Ana Van Den Rym, Prasad Taur, Rubén Martinez-Barricarte, Lazaro Lorenzo, Anne Puel, Pablo Gonzalez-Navarro, Ambreen Pandrowala, Vijaya Gowri, Amin Safa, Victor Toledano, Carolina Cubillos-Zapata, Eduardo López-Collazo, Maria Vela, Antonio Pérez-Martínez, Silvia Sánchez-Ramón, Maria J. Recio, Jean-Laurent Casanova, Mukesh M. Desai, Rebeca Perez de Diego

07.02.2020 | Original Article | Ausgabe 2/2020

Serum Anti-interferon-γ Autoantibody Titer as a Potential Biomarker of Disseminated Non-tuberculous Mycobacterial Infection

Kazutaka Yoshizawa, Ami Aoki, Kenjiro Shima, Yoshinari Tanabe, Toshiyuki Koya, Takashi Hasegawa, Toshiaki Kikuchi, Takuro Sakagami

01.02.2020 | Letter to Editor | Ausgabe 2/2020

A Novel, Heterozygous Three Base-Pair Deletion in CARD11 Results in B Cell Expansion with NF-κB and T Cell Anergy Disease

Adrian M. Shields, Bradly M. Bauman, Chantal E. Hargreaves, Andrew J. Pollard, Andrew L. Snow, Smita Y. Patel

18.01.2020 | Letter to Editor | Ausgabe 2/2020

Disseminated Pneumocystis jirovecii Infection with Osteomyelitis in a Patient with CTLA-4 Haploinsufficiency

Aminaa E. Siddiqi, Anne Y. Liu, Gregory W. Charville, Christian A. Kunder, Gulbu Uzel, Amir A. Sadighi Akha, Jean Oak, Beth Martin, Joshua Sacha, David B. Lewis, Yael Gernez

28.01.2020 | Letter to Editor | Ausgabe 2/2020

The Many Faces of XMEN Disease, Report of Two Patients with Novel Mutations

Rodrigo Hoyos-Bachiloglu, Sara Concha, Pablo Sepúlveda, Roberto Campos, Guillermo Perez-Mateluna, Alejandra King, Pamela Zuñiga

28.01.2020 | Letter to Editor | Ausgabe 2/2020

Efficacy of Dupilumab for Controlling Severe Atopic Dermatitis in a Patient with Hyper-IgE Syndrome

Romain Lévy, Vivien Béziat, Claire Barbieux, Anne Puel, Emmanuelle Bourrat, Jean-Laurent Casanova, Alain Hovnanian

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