Ausgabe 1/2019
Inhalt (20 Artikel)
Successful Bone Marrow Transplantation for XMEN: Hemorrhagic Risk Uncovered
Dimana Dimitrova, Jeremy J. Rose, Gulbu Uzel, Jeffrey I. Cohen, Koneti V. Rao, Jacob H. Bleesing, Christopher G. Kanakry, Jennifer A. Kanakry
MonoMAC Syndrome Caused by a Novel GATA2 Mutation Successfully Treated by Allogeneic Hematopoietic Stem Cell Transplantation
Maria Francisca Moraes-Fontes, Íris Caramalho, Amy P. Hsu, Steven M. Holland, Manuel Abecasis
Monoclonal Gammopathy of Unclear Significance in a Child with Wiskott-Aldrich Syndrome: a Rare Occurrence
Rashmi Rikhi, Sagar Bhattad, Ankur Jindal, Biman Saikia, Ravinder Garg, Amit Rawat, Deepti Suri, Surjit Singh
A Novel STK4 Mutation Presenting with Juvenile Idiopathic Arthritis and Epidermodysplasia Verruciformis
Samin Sharafian, Vahid Ziaee, Mohammad Shahrooei, Mahsa Ahadi, Nima Parvaneh
Two Prenatal Cases of Hyper-IgE Syndrome
Makiko Egawa, Kohsuke Imai, Yoko Taketani, Tomohiro Morio, Naoyuki Miyasaka
Successful Treatment with SCIG of a Child with Refractory Chronic ITP
Anna Karastaneva, Daniela S. Klobassa, Milen Minkov, Martin Benesch, Markus G. Seidel
Damaging BTK Variant Demonstrated by Carrier, Allele-Specific BTK Expression in B Cells and Monocytes
Mary T. Bausch-Jurken, Mary Hintermeyer, Jeffrey Woodliff, Shaoying Chen, Amy Rymaszewski, James Verbsky, John Routes
Childhood Hodgkin Lymphoma: Think DADA2
Fahad Alabbas, Ghaleb Elyamany, Omar Alsharif, Michael Hershfield, Isabelle Meyts
Autoimmunity and Inflammation in CVID: a Possible Crosstalk between Immune Activation, Gut Microbiota, and Epigenetic Modifications
Silje F. Jørgensen, Børre Fevang, Pål Aukrust
Hematopoietic Stem Cell Transplantation in Patients with Heterozygous STAT1 Gain-of-Function Mutation
Ayca Kiykim, Louis Marie Charbonnier, Arzu Akcay, Elif Karakoc-Aydiner, Ahmet Ozen, Gulyuz Ozturk, Talal A. Chatila, Safa Baris
Imaging of Bronchial Pathology in Antibody Deficiency: Data from the European Chest CT Group
Katharina Schütz, Diana Alecsandru, Bodo Grimbacher, Jamanda Haddock, Annemarie Bruining, Gertjan Driessen, Esther de Vries, Peter M. van Hagen, Ieneke Hartmann, Francesco Fraioli, Cinzia Milito, Milica Mitrevski, Isabella Quinti, Goffredo Serra, Peter Kelleher, Michael Loebinger, Jiri Litzman, Vera Postranecka, Vojtech Thon, Judith Babar, Alison M. Condliffe, Andrew Exley, Dinakantha Kumararatne, Nick Screaton, Alison Jones, Maria P. Bondioni, Vassilios Lougaris, Alessandro Plebani, Annarosa Soresina, Cesare Sirignano, Giuseppe Spadaro, Nermeen Galal, Luis I. Gonzalez-Granado, Sabine Dettmer, Robert Stirling, Helen Chapel, Mary Lucas, Smita Patel, Claire-Michele Farber, Isabelle Meyts, Arpan K. Banerjee, Scott Hackett, John R. Hurst, Klaus Warnatz, Benjamin Gathmann, Ulrich Baumann
Progressive Multifocal Leukoencephalopathy in Primary Immunodeficiencies
Jérôme Hadjadj, Aurélien Guffroy, Christophe Delavaud, Guillaume Taieb, Isabelle Meyts, Anne Fresard, Nathalie Streichenberger, Anne-Sophie L’Honneur, Flore Rozenberg, Maud D’Aveni, Claire Aguilar, Jérémie Rosain, Capucine Picard, Nizar Mahlaoui, Marc Lecuit, Olivier Hermine, Olivier Lortholary, Felipe Suarez
Lymphocyte Apoptosis and FAS Expression in Patients with 22q11.2 Deletion Syndrome
Dina M. Aresvik, Torstein Øverland, Kari Lima, Rolf D. Pettersen, Tore G. Abrahamsen
DDX58 and Classic Singleton-Merten Syndrome
Carlos R. Ferreira, Yanick J. Crow, William A. Gahl, Pamela J. Gardner, Raphaela Goldbach-Mansky, Sun Hur, Adriana Almeida de Jesús, Michele Nehrebecky, Ji Woo Park, Tracy A. Briggs
Rubella Virus-Associated Cutaneous Granulomatous Disease: a Unique Complication in Immune-Deficient Patients, Not Limited to DNA Repair Disorders
David Buchbinder, Fabian Hauck, Michael H. Albert, Anita Rack, Shahrzad Bakhtiar, Anna Shcherbina, Elena Deripapa, Kathleen E. Sullivan, Ludmila Perelygina, Marc Eloit, Bénédicte Neven, Philippe Pérot, Despina Moshous, Félipe Suarez, Christine Bodemer, Francisco A. Bonilla, Louise E. Vaz, Alfons L. Krol, Christoph Klein, Mikko Seppanen, Diane J. Nugent, Jasjit Singh, Hans D. Ochs
Differing Performance of the Warning Signs for Immunodeficiency in the Diagnosis of Pediatric Versus Adult Patients in a Two-Center Tertiary Referral Population
Jaclyn A. Bjelac, Jennifer R. Yonkof, James Fernandez
A Novel Missense LIG4 Mutation in a Patient With a Phenotype Mimicking Behçet’s Disease
Ekim Z. Taskiran, Hafize E. Sonmez, Can Kosukcu, Ece Tavukcuoglu, Gozde Yazici, Gunes Esendagli, Ezgi D. Batu, Pelin O. S. Kiper, Yelda Bilginer, Mehmet Alikasifoglu, Seza Ozen
Mosaicism of an ELANE Mutation in an Asymptomatic Mother
Tomonari Shigemura, Norimoto Kobayashi, Kazunaga Agematsu, Osamu Ohara, Yozo Nakazawa
Outcomes for Nitazoxanide Treatment in a Case Series of Patients with Primary Immunodeficiencies and Rubella Virus-Associated Granuloma
Ludmila Perelygina, David Buchbinder, Morna J. Dorsey, Marc Eloit, Fabian Hauck, Timo Hautala, Despina Moshous, Ignacio Uriarte, Elena Deripapa, Joseph Icenogle, Kathleen E. Sullivan
TREX-1-Related Disease Associated with the Presence of Cryofibrinogenemia
C. Paradis, M. Cadieux-Dion, C. Meloche, M. Gravel, J. Paradis, A. Des Roches, G. Leclerc, P. Cossette, P. Begin