Issue 5/2017
Content (13 Articles)
Human IκBα Gain of Function: a Severe and Syndromic Immunodeficiency
Bertrand Boisson, Anne Puel, Capucine Picard, Jean-Laurent Casanova
A Stable Mixed Chimera After SCT with RIC in an Infant with IκBα Hypermorphic Mutation
Masayuki Nagasawa, Teppei Ohkawa, Masatoshi Takagi, Kohsuke Imai, Tomohiro Morio
Disseminated Mycobacterium malmoense and Salmonella Infections Associated with a Novel Variant in NFKBIA
Emily Staples, Beatriz Morillo-Gutierrez, Jessica Davies, Daniel Petersheim, Michel Massaad, Mary Slatter, Dimitra Dimou, Rainer Doffinger, Scott Hackett, Dinkantha Kumararatne, James Hadfield, Matthew D. Eldridge, Raif S. Geha, Mario Abinun, James E. D. Thaventhiran
Enterovirus-Related Immune Reconstitution Inflammatory Syndrome (IRIS) Following Haploidentical Stem Cell Transplantation in an MHC Class II-Deficient Child
Ravi M. Shah, Sheila Waugh, Khuen F. Ng, Andrew R. Gennery, Mary Slatter, Andrew J. Cant
Thyroid Carcinoma in a Child with Activated Phosphoinositide 3-Kinase δ Syndrome: Somatic Effect of a Germline Mutation
Giorgia Bucciol, Lien Willems, Esther Hauben, Anne Uyttebroeck, Marijke Proesmans, Isabelle Meyts
The Use of Salmonella Typhim Vaccine to Diagnose Antibody Deficiency
Mary T. Bausch-Jurken, James W. Verbsky, Katherine A. Gonzaga, Nancy P. Elms, Mary K. Hintermeyer, Stephen B. Gauld, John M. Routes
Common Variable Immunodeficiency Caused by FANC Mutations
Yujin Sekinaka, Noriko Mitsuiki, Kohsuke Imai, Miharu Yabe, Hiromasa Yabe, Kanako Mitsui-Sekinaka, Kenichi Honma, Masatoshi Takagi, Ayako Arai, Kenichi Yoshida, Yusuke Okuno, Yuichi Shiraishi, Kenichi Chiba, Hiroko Tanaka, Satoru Miyano, Hideki Muramatsu, Seiji Kojima, Asuka Hira, Minoru Takata, Osamu Ohara, Seishi Ogawa, Tomohiro Morio, Shigeaki Nonoyama
Deficiency of Interleukin-1 Receptor Antagonist (DIRA): Report of the First Indian Patient and a Novel Deletion Affecting IL1RN
Leonardo O. Mendonca, Louise Malle, Frank X. Donovan, Settara C. Chandrasekharappa, Gina A. Montealegre Sanchez, Megha Garg, Ulf Tedgard, Mariana Castells, Shiv S. Saini, Sourabh Dutta, Raphaela Goldbach-Mansky, Deepti Suri, Adriana A. Jesus
Advances in the Care of Primary Immunodeficiencies (PIDs): from Birth to Adulthood
Nizar Mahlaoui, Klaus Warnatz, Alison Jones, Sarita Workman, Andrew Cant
Health-Related Quality of Life in Adult Patients with Common Variable Immunodeficiency Disorders and Impact of Treatment
Nicholas L. Rider, Carleigh Kutac, Joud Hajjar, Chris Scalchunes, Filiz O. Seeborg, Marcia Boyle, Jordan S. Orange
Identification of 22q11.2 Deletion Syndrome via Newborn Screening for Severe Combined Immunodeficiency
Jessica C. Barry, Terrence Blaine Crowley, Soma Jyonouchi, Jennifer Heimall, Elaine H. Zackai, Kathleen E. Sullivan, Donna M. McDonald-McGinn
Multicolor Flow Cytometry for the Diagnosis of Primary Immunodeficiency Diseases
Takehiro Takashima, Miko Okamura, Tzu-wen Yeh, Tsubasa Okano, Motoi Yamashita, Keisuke Tanaka, Akihiro Hoshino, Noriko Mitsuiki, Masatoshi Takagi, Eiichi Ishii, Kohsuke Imai, Hirokazu Kanegane, Tomohiro Morio
Quality of Life, Treatment Beliefs, and Treatment Satisfaction in Children Treated for Primary Immunodeficiency with SCIg
Serge Sultan, Émélie Rondeau, Marie-Claude Levasseur, Renée Dicaire, Hélène Decaluwe, Élie Haddad