Issue 1/2016
Content (15 Articles)
Monoallelic BAFFR P21R/H159Y Mutations and Familiar Primary Antibody Deficiencies
Vassilios Lougaris, Manuela Baronio, Daniele Moratto, Fabio Cardinale, Alessandro Plebani
Major Histocompatibility Complex Class II Deficiency due to a Novel Mutation in RFXANK in a Child of Mexican Descent
Katherine Clarridge, David Leitenberg, Brett Loechelt, Capuchine Picard, Michael Keller
Immune Dysregulation Syndromes (IPEX, CD27 Deficiency, and Others): Always Doomed from the Start?
Markus G. Seidel, Kaan Boztug, Oskar A. Haas
A Successful HSCT in a Girl with Novel LRBA Mutation with Refractory Celiac Disease
Sinan Sari, Figen Dogu, Vivian Hwa, Sule Haskologlu, Andrew Dauber, Ron Rosenfeld, Meltem Polat, Zarife Kuloglu, Aydan Kansu, Buket Dalgic, Aydan Ikinciogullari
Severe Mycobacterial Diseases in a Patient with GOF IκBα Mutation Without EDA
Alison Joanne Lee, Marcela Moncada-Vélez, Capucine Picard, Genevieve Llanora, Chiung-Hui Huang, Laurent Abel, Si Min Chan, Bee-Wah Lee, Jean-Laurent Casanova, Jacinta Bustamante, Lynette Pei-Chi Shek, Stéphanie Boisson-Dupuis
Complement Study Versus CINH Gene Testing for the Diagnosis of Type I Hereditary Angioedema in Children
María Pedrosa, Elsa Phillips-Angles, Alberto López-Lera, Margarita López-Trascasa, Teresa Caballero
A Multiplex Kindred with Hennekam Syndrome due to Homozygosity for a CCBE1 Mutation that does not Prevent Protein Expression
Carolyn C. Jackson, Lucy Best, Lazaro Lorenzo, Jean-Laurent Casanova, Jochen Wacker, Simone Bertz, Abbas Agaimy, Thomas Harrer
A Patient with CTLA-4 Haploinsufficiency Presenting Gastric Cancer
Seiichi Hayakawa, Satoshi Okada, Miyuki Tsumura, Sonoko Sakata, Yoshitaka Ueno, Kohsuke Imai, Tomohiro Morio, Osamu Ohara, Kazuaki Chayama, Masao Kobayashi
Spectrum of Phenotypes Associated with Mutations in LRBA
Omar K. Alkhairy, Hassan Abolhassani, Nima Rezaei, Mingyan Fang, Kasper Krogh Andersen, Zahra Chavoshzadeh, Iraj Mohammadzadeh, Mariam A. El-Rajab, Michel Massaad, Janet Chou, Asghar Aghamohammadi, Raif S. Geha, Lennart Hammarström
Molecular Characteristics, Clinical and Immunologic Manifestations of 11 Children with Omenn Syndrome in East Slavs (Russia, Belarus, Ukraine)
Svetlana O. Sharapova, Irina E. Guryanova, Olga E. Pashchenko, Irina V. Kondratenko, Larisa V. Kostyuchenko, Yulia A. Rodina, Tatjana V. Varlamova, Anastasiia V. Bondarenko, Liudmyla I. Chernyshova, Marina N. Gyseva, Mikhail V. Belevtsev, Nina V. Minakovskaya, Olga V. Aleinikova
Clinical Features, Non-Infectious Manifestations and Survival Analysis of 161 Children with Primary Immunodeficiency in Mexico: A Single Center Experience Over two Decades
Saul Oswaldo Lugo Reyes, Guadalupe Ramirez-Vazquez, Alonso Cruz Hernández, Edgar A. Medina-Torres, Ana Belen Ramirez-Lopez, Corín España-Cabrera, Citlali A Hernandez-Lopez, Marco A. Yamazaki-Nakashimada, Francisco J. Espinosa-Rosales, Sara E. Espinosa-Padilla, Chiharu Murata
Magnetic Resonance Imaging May Be a Valuable Radiation-Free Technique for Lung Pathologies in Patients with Primary Immunodeficiency
Sevket Arslan, Necdet Poyraz, Ramazan Ucar, Mihrican Yesildag, Ahmet Yesildag, Ahmet Zafer Caliskaner
The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1
Mark Depner, Sebastian Fuchs, Jan Raabe, Natalie Frede, Cristina Glocker, Rainer Doffinger, Effrossyni Gkrania-Klotsas, Dinakantha Kumararatne, T. Prescott Atkinson, Harry W. Schroeder Jr., Tim Niehues, Gregor Dückers, Asbjørg Stray-Pedersen, Ulrich Baumann, Reinhold Schmidt, Jose L. Franco, Julio Orrego, Moshe Ben-Shoshan, Christine McCusker, Cristina Miuki Abe Jacob, Magda Carneiro-Sampaio, Lisa A. Devlin, J. David M. Edgar, Paul Henderson, Richard K. Russell, Anne-Bine Skytte, Suranjith L. Seneviratne, Jennifer Wanders, Hans Stauss, Isabelle Meyts, Leen Moens, Milos Jesenak, Robin Kobbe, Stephan Borte, Michael Borte, Dowain A. Wright, David Hagin, Troy R. Torgerson, Bodo Grimbacher
Decreased Frequency and Secretion of CD26 Promotes Disease Progression in Indian Post Kala-azar Dermal Leishmaniasis
Shibabrata Mukherjee, Debanjan Mukhopadhyay, Susmita Ghosh, Joyashree N. Barbhuiya, Nilay K. Das, Mitali Chatterjee
Angioedema Triggered by Medication Blocking the Renin/Angiotensin System: Retrospective Study Using the French National Pharmacovigilance Database
Charles Faisant, Guillaume Armengol, Laurence Bouillet, Isabelle Boccon-Gibod, Céline Villier, Hervé Lévesque, Judith Cottin, Nathalie Massy, Ygal Benhamou