Issue 8/2015
Content (10 Articles)
Cytomegalovirus Encephalitis in a Patient with Severe Combined Immunodeficiency
Mitsuo Motobayashi, Tomonari Shigemura, Miyuki Tanaka, Takashi Kurata, Norimoto Kobayashi, Kazunaga Agematsu, Yoshiro Amano, Yuji Inaba, Kenichi Koike, Yozo Nakazawa
Recurrent Respiratory Infections Revealing CD8α Deficiency
Erwan Dumontet, Jennifer Osman, Nathalie Guillemont-Lambert, Guilhem Cros, Despina Moshous, Capucine Picard
Primary Immunodeficiency Diseases: an Update on the Classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency 2015
Capucine Picard, Waleed Al-Herz, Aziz Bousfiha, Jean-Laurent Casanova, Talal Chatila, Mary Ellen Conley, Charlotte Cunningham-Rundles, Amos Etzioni, Steven M. Holland, Christoph Klein, Shigeaki Nonoyama, Hans D. Ochs, Eric Oksenhendler, Jennifer M. Puck, Kathleen E. Sullivan, Mimi L K. Tang, Jose Luis Franco, H. Bobby Gaspar
The 2015 IUIS Phenotypic Classification for Primary Immunodeficiencies
Aziz Bousfiha, Leïla Jeddane, Waleed Al-Herz, Fatima Ailal, Jean‐Laurent Casanova, Talal Chatila, Mary Ellen Conley, Charlotte Cunningham‐Rundles, Amos Etzioni, Jose Luis Franco, H. Bobby Gaspar, Steven M. Holland, Christoph Klein, Shigeaki Nonoyama, Hans D. Ochs, Eric Oksenhendler, Capucine Picard, Jennifer M. Puck, Kathleen E. Sullivan, Mimi L. K. Tang
PID in Disguise: Molecular Diagnosis of IRAK-4 Deficiency in an Adult Previously Misdiagnosed With Autosomal Dominant Hyper IgE Syndrome
Glynis Frans, Leen Moens, Rik Schrijvers, Greet Wuyts, Bernard Bouckaert, Heidi Schaballie, Lieven Dupont, Xavier Bossuyt, Anniek Corveleyn, Isabelle Meyts
Report of the Tunisian Registry of Primary Immunodeficiencies: 25-Years of Experience (1988–2012)
Fethi Mellouli, Imen Ben Mustapha, Monia Ben Khaled, Habib Besbes, Monia Ouederni, Najla Mekki, Meriem Ben Ali, Beya Larguèche, Mongia Hachicha, Tahar Sfar, Neji Gueddiche, Siheme Barsaoui, Azza Sammoud, Khadija Boussetta, Saida Ben Becher, Ahmed Meherzi, Najoua Guandoura, Lamia Boughammoura, Abdelaziz Harbi, Fethi Amri, Fethi Bayoudh, Najla Ben Jaballah, Neji Tebib, Asma Bouaziz, Abdelmajid Mahfoudh, Hajer Aloulou, Lamia Ben Mansour, Imen Chabchoub, Raoudha Boussoffara, Jalel Chemli, Jihène Bouguila, Saida Hassayoun, Saber Hammami, Zakia Habboul, Agnès Hamzaoui, Jamel Ammar, Mohamed-Ridha Barbouche, Mohamed Bejaoui
Late Onset Hypomorphic RAG2 Deficiency Presentation with Fatal Vaccine-Strain VZV Infection
Cullen M. Dutmer, Edwin J. Asturias, Christiana Smith, Megan K. Dishop, D. Scott Schmid, William J. Bellini, Irit Tirosh, Yu Nee Lee, Luigi D. Notarangelo, Erwin W. Gelfand
The 11q Terminal Deletion Disorder Jacobsen Syndrome is a Syndromic Primary Immunodeficiency
Virgil A. S. H. Dalm, Gertjan J. A. Driessen, Barbara H. Barendregt, Petrus M. van Hagen, Mirjam van der Burg
FAS Haploinsufficiency Caused by Extracellular Missense Mutations Underlying Autoimmune Lymphoproliferative Syndrome
María Gabriela Simesen de Bielke, Laura Perez, Judith Yancoski, João Bosco Oliveira, Silvia Danielian
Early Complement Component Deficiency in a Single-Centre Cohort of Pediatric Onset Lupus
Sagar Bhattad, Amit Rawat, Anju Gupta, Deepti Suri, Ravinder Garg, Martin de Boer, Taco W. Kuijpers, Surjit Singh