Issue 7/2018
Content (17 Articles)
XL-EDA-ID Presenting with Congenital Duodenal Atresia and Perforations
Yusuke Mitani, Taizo Wada, Yusuke Matsuda, Seisho Sakai, Akihiro Yachie
Palatal Ulcer in Leukocyte Adhesion Deficiency: an Unusual Occurrence
Avinash Sharma, Ankur K. Jindal, Rakesh K. Pilania, Piyush Gautam, Subhash Daroch
Correction to: Diabetes, Renal, and Cardiovascular Disease in p47phox−/− Chronic Granulomatous Disease
Gouri P. Hule
Pseudo-Sarcoidosis Revealing MonoMAC Syndrome
Louise Damian, Gaëtan Sauvêtre, Florent Marguet, Mikael Verdalle-Cazes, Maxime Battistella, David Boutboul
Newborn Screening for IKBKB Deficiency in Manitoba, Using Genetic Mutation Analysis
Tamar S. Rubin, Cheryl Rockman-Greenberg, Paul Van Caeseele, Geoffrey D.E. Cuvelier, Luvinia Kwan, Marlis L. Schroeder
Increased STAT1 Amounts Correlate with the Phospho-STAT1 Level in STAT1 Gain-of-function Defects
Andrea R. Bernasconi, Judith Yancoski, Mariana Villa, Matías M. Oleastro, Miguel Galicchio, Jorge G. Rossi
Chronic Aichi Virus Infection in a Patient with X-Linked Agammaglobulinemia
Giorgia Bucciol, Leen Moens, Kathryn Payne, Elke Wollants, Djalila Mekahli, Elena Levtchenko, François Vermeulen, Thomas Tousseyn, Paul Gray, Cindy S. Ma, Stuart G. Tangye, Marc Van Ranst, Julianne R. Brown, Judy Breuer, Isabelle Meyts
Novel STAT1 Gain-of-Function Mutation Presenting as Combined Immunodeficiency
Stella P. Hartono, Alexander Vargas-Hernández, Mark J. Ponsford, Ivan K. Chinn, Stephen Jolles, Keith Wilson, Lisa R. Forbes
Allogeneic Hematopoietic Cell Transplantation in Patients with Primary Immunodeficiencies in Korea: Eleven-Year Experience in a Single Center
Eun Sang Yi, Young Bae Choi, Na Hee Lee, Ji Won Lee, Ki Woong Sung, Hong Hoe Koo, Eun-Sook Kang, Yae-Jean Kim, Keon Hee Yoo
Correction to: Allogeneic Hematopoietic Cell Transplantation in Patients with Primary Immunodeficiencies in Korea: Eleven-Year Experience in a Single Center
Eun Sang Yi, Young Bae Choi, Na Hee Lee, Ji Won Lee, Ki Woong Sung, Hong Hoe Koo, Eun-Suk Kang, Yae-Jean Kim, Keon Hee Yoo
Gastric Cancer Screening in Common Variable Immunodeficiency
David K. van der Poorten, Duncan McLeod, Golo Ahlenstiel, Scott Read, Avelyn Kwok, Cositha Santhakumar, Milan Bassan, Suzanne Culican, David Campbell, Sue W. J. Wong, Louise Evans, Bilel Jideh, Alisa Kane, Constance H. Katelaris, Karuna Keat, Yanna Ko, Jessie A. Lee, Sandhya Limaye, Ming Wei Lin, Ari Murad, Martina Rafferty, Dan Suan, Sanjay Swaminathan, Sean D. Riminton, Catherine Toong, Lucinda J. Berglund
Newborn Screening for Severe Combined Immunodeficiency: Analytic and Clinical Performance of the T Cell Receptor Excision Circle Assay in France (DEPISTREC Study)
Marie A. P. Audrain, Alexandra J. C. Léger, Caroline A. F. Hémont, Sophie M. Mirallié, David Cheillan, Marie G. M. Rimbert, Aurélie M-P. Le Thuaut, Véronique A. Sébille-Rivain, Aurore Prat, Enora M. Q. Pinel, Eléonore Divry, Cécile G. L. Dert, Maxime A. G. Fournier, Caroline J. C. Thomas
Impaired IL-12- and IL-23-Mediated Immunity Due to IL-12Rβ1 Deficiency in Iranian Patients with Mendelian Susceptibility to Mycobacterial Disease
Nioosha Nekooie-Marnany, Caroline Deswarte, Vajiheh Ostadi, Bahram Bagherpour, Elaheh Taleby, Mazdak Ganjalikhani-Hakemi, Tom Le Voyer, Hamid Rahimi, Jérémie Rosain, Zahra Pourmoghadas, Saba Sheikhbahaei, Razieh Khoshnevisan, Daniel Petersheim, Daniel Kotlarz, Christoph Klein, Stéphanie Boisson-Dupuis, Jean-Laurent Casanova, Jacinta Bustamante, Roya Sherkat
Early-Onset Invasive Infection Due to Corynespora cassiicola Associated with Compound Heterozygous CARD9 Mutations in a Colombian Patient
Carlos A. Arango-Franco, Marcela Moncada-Vélez, Claudia Patricia Beltrán, Indira Berrío, Cristian Mogollón, Andrea Restrepo, Mónica Trujillo, Sara Daniela Osorio, Lorena Castro, Lina Vanessa Gómez, Ana María Muñoz, Verónica Molina, Delsy Yurledy del Río Cobaleda, Ana Cristina Ruiz, Carlos Garcés, Juan Fernando Alzate, Felipe Cabarcas, Julio Cesar Orrego, Jean-Laurent Casanova, Jacinta Bustamante, Anne Puel, Andrés Augusto Arias, José Luis Franco
High Rates of Community and Hospital Acquired Infections in Patients with Cellular Immunodeficiencies
Benjamin R. Hanisch, Blachy J. Davila Saldana, Michael D. Keller, Xiaoyan Song
Treatment of Hereditary Angioedema Attacks with Icatibant and Recombinant C1 Inhibitor During Pregnancy
Roman Hakl, Pavel Kuklínek, Irena Krčmová, Pavlína Králíčková, Tomáš Freiberger, Petr Janků, Marcela Vlková, Jiří Litzman
Fourth Update on the Iranian National Registry of Primary Immunodeficiencies: Integration of Molecular Diagnosis
Hassan Abolhassani, Fatemeh Kiaee, Marzieh Tavakol, Zahra Chavoshzadeh, Seyed Alireza Mahdaviani, Tooba Momen, Reza Yazdani, Gholamreza Azizi, Sima Habibi, Mohammad Gharagozlou, Masoud Movahedi, Amir Ali Hamidieh, Nasrin Behniafard, Mohammamd Nabavi, Mohammad Hassan Bemanian, Saba Arshi, Rasol Molatefi, Roya Sherkat, Afshin Shirkani, Reza Amin, Soheila Aleyasin, Reza Faridhosseini, Farahzad Jabbari-Azad, Iraj Mohammadzadeh, Javad Ghaffari, Alireza Shafiei, Arash Kalantari, Mahboubeh Mansouri, Mehrnaz Mesdaghi, Delara Babaie, Hamid Ahanchian, Maryam Khoshkhui, Habib Soheili, Mohammad Hossein Eslamian, Taher Cheraghi, Abbas Dabbaghzadeh, Mahmoud Tavassoli, Rasoul Nasiri Kalmarzi, Seyed Hamidreza Mortazavi, Sara Kashef, Hossein Esmaeilzadeh, Javad Tafaroji, Abbas Khalili, Fariborz Zandieh, Mahnaz Sadeghi-Shabestari, Sepideh Darougar, Fatemeh Behmanesh, Hedayat Akbari, Mohammadreza Zandkarimi, Farhad Abolnezhadian, Abbas Fayezi, Mojgan Moghtaderi, Akefeh Ahmadiafshar, Behzad Shakerian, Vahid Sajedi, Behrang Taghvaei, Mojgan Safari, Marzieh Heidarzadeh, Babak Ghalebaghi, Seyed Mohammad Fathi, Behzad Darabi, Saeed Bazregari, Nasrin Bazargan, Morteza Fallahpour, Alireza Khayatzadeh, Naser Javahertrash, Bahram Bashardoust, Mohammadali Zamani, Azam Mohsenzadeh, Sarehsadat Ebrahimi, Samin Sharafian, Ahmad Vosughimotlagh, Mitra Tafakoridelbari, Maziar Rahimi, Parisa Ashournia, Anahita Razaghian, Arezou Rezaei, Setareh Mamishi, Nima Parvaneh, Nima Rezaei, Lennart Hammarström, Asghar Aghamohammadi