Ausgabe 6/2019
Inhalt (12 Artikel)
In Memoriam: Prof. Dr. J.M.J.J. Vossen (1937–2019)
Arjan Lankester, Peter Heidt, Hans Rümke, Robbert Bredius, Maarten van Tol
WHIM Syndrome: from Pathogenesis Towards Personalized Medicine and Cure
Lauren E. Heusinkveld, Shamik Majumdar, Ji-Liang Gao, David H. McDermott, Philip M. Murphy
Respiratory Complications in Patients with Hyper IgM Syndrome
Bobak Moazzami, Reza Yazdani, Gholamreza Azizi, Fatemeh Kiaei, Mitra Tafakori, Mohammadreza Modaresi, Rohola Shirzadi, Seyed Alireza Mahdaviani, Mahsa Sohani, Hassan Abolhassani, Asghar Aghamohammadi
Cellular Defects in CVID Patients with Chronic Lung Disease in the USIDNET Registry
Erinn S. Kellner, Ramsay Fuleihan, Charlotte Cunningham-Rundles, Joshua B. Wechsler
Diagnostic Yield of Next Generation Sequencing in Genetically Undiagnosed Patients with Primary Immunodeficiencies: a Systematic Review
Hemmo A. F. Yska, Kim Elsink, Taco W. Kuijpers, Geert W. J. Frederix, Mariëlle E. van Gijn, Joris M. van Montfrans
Compound Heterozygous DOCK8 Mutations in a Patient with B Lymphoblastic Leukemia and EBV-Associated Diffuse Large B Cell Lymphoma
David Buchbinder, Ivan Kirov, Jeffrey Danielson, Nirali N. Shah, Alexandra F. Freeman, Rishikesh S. Chavan, Helen C. Su
Chronic Mucocutaneous Candidiasis in an Adolescent Boy Due to a Novel Mutation in TRAF3IP2
Sagar Bhattad, Chitra Dinakar, Haneesha Pinnamaraju, Aparna Ganapathy, Ashraf Mannan
Current Status of the Management of Mendelian Susceptibility to Mycobacterial Disease in Mainland China
Wenjing Ying, Danru Liu, Xiaolong Dong, Wenjie Wang, Xiaoying Hui, Jia Hou, Haili Yao, Qinhua Zhou, Bijun Sun, Jinqiao Sun, Xiaochuan Wang
Myriad Faces of Chronic Granulomatous Disease: All in an Indian Family with Novel CYBB Defect
Pandiarajan Vignesh, Madhubala Sharma, Rakesh Kumar Pilania, Jitendra Kumar Shandilya, Anit Kaur, Shubham Goel, Anupriya Kaur, Deepti Suri, Amit Rawat, Ashwin Dalal, Asodu Sandeep Sarma, Surjit Singh
Novel Exonic Deletions in TTC7A in a Newborn with Multiple Intestinal Atresia and Combined Immunodeficiency
Jessica R. Saunders, Anna Lehman, Stuart E. Turvey, Jie Pan, Evica Rajcan-Separovic, Aleixo M. Muise, Jonathan W. Bush
RNASEH2B Related Adult-Onset Interferonopathy
Tracy A. Briggs, Anindita Paul, Gillian Rice, Ariane L. Herrick