Issue 2/2020
Content (20 Articles)
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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