Journal of Clinical Immunology

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

2015 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference