Issue 3/2018
Content (16 Articles)
Low Serum IgE Is a Sensitive and Specific Marker for Common Variable Immunodeficiency (CVID)
Monica G. Lawrence, Thamiris V. Palacios-Kibler, Lisa J. Workman, Alexander J. Schuyler, John W. Steinke, Spencer C. Payne, Emily C. McGowan, James Patrie, Ramsay L. Fuleihan, Kathleen E. Sullivan, Patricia L. Lugar, Camellia L. Hernandez, Douglas E. Beakes, James W. Verbsky, Thomas A. E. Platts-Mills, Charlotte Cunningham-Rundles, John M. Routes, Larry Borish
Hemophagocytic Lymphohistiocytosis in Loeys-Dietz Syndrome
Andrew Biggin, Annabelle Enriquez, Melanie Wong, Bruce Bennetts, Chiyan Lau, Cheng Yee Chan, Jason Pinner, Stephen Adelstein, Lesley C. Adès
Immunologist’s Perspectives on Assessment and Management of Lung Disease in CVID: a Survey of the Membership of the Clinical Immunology Society and the European Society for Immunodeficiencies
Javeed Akhter, Cheryl A. Lefaiver, Christopher Scalchunes, Michael DiGirolamo, Klaus Warnatz
From Ignác Semmelweis to Primary Immunodeficiencies: a Bicentenary Commemoration
László Maródi
Combined Immunodeficiency with Ring Chromosome 21
Melissa Norman, Brynn Wainstein, Antoinette Anazodo, Anne Turner, Cindy Ma, Kathryn Payne, Stuart G. Tangye, Paul Gray
Francisella philomiragia: Think of Chronic Granulomatous Disease
Angel Robles-Marhuenda, Marco Vaca, Pilar Romero, Antonio Ferreira, Eduardo López-Granados, Francisco Arnalich
A Cohort of 169 Chronic Granulomatous Disease Patients Exposed to BCG Vaccination: a Retrospective Study from a Single Center in Shanghai, China (2004–2017)
Qinhua Zhou, Xiaoying Hui, Wenjing Ying, Jia Hou, Wenjie Wang, Danru Liu, Ying Wang, Yeheng Yu, Jingyi Wang, Jinqiao Sun, Qian Zhang, Xiaochuan Wang
Novel Mutation in CECR1 Leads to Deficiency of ADA2 with Associated Neutropenia
Funda Erol Cipe, Cigdem Aydogmus, Nina K. Serwas, Gonca Keskindemirci, Kaan Boztuğ
Mendelian Susceptibility to Mycobacterial Disease Caused by a Novel Founder IL12B Mutation in Saudi Arabia
Abdulrahman N. Alodayani, Abdulnasir M. Al-Otaibi, Caroline Deswarte, Husn Habib Frayha, Matthieu Bouaziz, Maryam AlHelale, Tom Le Voyer, Alejandro Nieto-Patlan, Vimel Rattina, Mofareh AlZahrani, Rabih Halwani, Fahad Al Sohime, Hamoud Al-Mousa, Saleh Al-Muhsen, Sami H. Alhajjar, Nabil S. Dhayhi, Laurent Abel, Jean-Laurent Casanova, Ibrahim Bin-Hussain, May S. AlBarrak, Suliman A. Al-Jumaah, Jacinta Bustamante
Complications Associated with Underweight Primary Immunodeficiency Patients: Prevalence and Associations Within the USIDNET Registry
Melanie A. Ruffner, Kathleen E. Sullivan
First Analysis of SERPING1 Gene in Patients with Hereditary Angioedema in Colombia Reveals Two Genotypic Variants in a Highly Symptomatic Individual
Jairo A. Rodríguez, Carlos F. Narváez
Droplet Digital PCR-Based Chimerism Analysis for Primary Immunodeficiency Diseases
Tsubasa Okano, Yuki Tsujita, Hirokazu Kanegane, Kanako Mitsui-Sekinaka, Kay Tanita, Satoshi Miyamoto, Tzu-Wen Yeh, Motoi Yamashita, Naomi Terada, Yumi Ogura, Masatoshi Takagi, Kohsuke Imai, Shigeaki Nonoyama, Tomohiro Morio
Utility of DNA, RNA, Protein, and Functional Approaches to Solve Cryptic Immunodeficiencies
Margot A. Cousin, Matthew J. Smith, Ashley N. Sigafoos, Jay J. Jin, Marine I. Murphree, Nicole J. Boczek, Patrick R. Blackburn, Gavin R. Oliver, Ross A. Aleff, Karl J. Clark, Eric D. Wieben, Avni Y. Joshi, Pavel N. Pichurin, Roshini S. Abraham, Eric W. Klee
Use of Genetic Testing for Primary Immunodeficiency Patients
Jennifer R. Heimall, David Hagin, Joud Hajjar, Sarah E. Henrickson, Hillary S. Hernandez-Trujillo, Yuval Tan, Lisa Kobrynski, Kenneth Paris, Troy R. Torgerson, James W. Verbsky, Richard L. Wasserman, Elena W. Y. Hsieh, Jack J. Blessing, Janet S. Chou, Monica G. Lawrence, Rebecca A. Marsh, Sergio D. Rosenzweig, Jordan S. Orange, Roshini S. Abraham