Ausgabe 3/2015
Inhalt (10 Artikel)
Human Disease Phenotypes Associated With Mutations in TREX1
Gillian I. Rice, Mathieu P. Rodero, Yanick J. Crow
A Female Patient with Incomplete Hemophagocytic Lymphohistiocytosis Caused by a Heterozygous XIAP Mutation Associated with Non-Random X-Chromosome Inactivation Skewed Towards the Wild-Type XIAP Allele
Xi Yang, Akihiro Hoshino, Takashi Taga, Tomoaki Kunitsu, Yuhachi Ikeda, Takahiro Yasumi, Kenichi Yoshida, Taizo Wada, Kunio Miyake, Takeo Kubota, Yusuke Okuno, Hideki Muramatsu, Yuichi Adachi, Satoru Miyano, Seishi Ogawa, Seiji Kojima, Hirokazu Kanegane
Overlap of Familial Mediterranean Fever and Hyper-IgD Syndrome in an Arabic Kindred
Taha Moussa, Buthaina Aladbe, Rowaida Z. Taha, Elaine F. Remmers, Hatem El-Shanti, Basil M Fathalla
A mutation in the human tetraspanin CD81 gene is expressed as a truncated protein but does not enable CD19 maturation and cell surface expression
Felipe Vences-Catalán, Chiung-Chi Kuo, Yael Sagi, Homer Chen, Neta Kela-Madar, Menno C. van Zelm, Jacques J. M. van Dongen, Shoshana Levy
Long-Term Follow-up of STAT5B Deficiency in Three Argentinian Patients: Clinical and Immunological Features
Liliana Bezrodnik, Daniela Di Giovanni, María Soledad Caldirola, María Esnaola Azcoiti, Troy Torgerson, María Isabel Gaillard
The Duesseldorf Warning Signs for Primary Immunodeficiency: Is it Time to Change the Rules?
Petra Lankisch, Julia Schiffner, Sujal Ghosh, Florian Babor, Arndt Borkhardt, Hans-Jürgen Laws
RAG1 Deficiency May Present Clinically as Selective IgA Deficiency
Tamaki Kato, Elena Crestani, Chikako Kamae, Kenichi Honma, Tomoko Yokosuka, Takeshi Ikegawa, Naonori Nishida, Hirokazu Kanegane, Taizo Wada, Akihiro Yachie, Osamu Ohara, Tomohiro Morio, Luigi D. Notarangelo, Kohsuke Imai, Shigeaki Nonoyama
Reduced Frequencies of Polyfunctional CMV-Specific T Cell Responses in Infants with Congenital CMV Infection
Laura Gibson, Constance M. Barysauskas, Margaret McManus, Sheryl Dooley, Daniele Lilleri, Donna Fisher, Tumul Srivastava, Don J. Diamond, Katherine Luzuriaga
Familial Hepatopulmonary Syndrome in Common Variable Immunodeficiency
S. N. Holmes, A. Condliffe, W. Griffiths, H. Baxendale, D. S. Kumararatne