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Journal of Clinical Immunology

Issue 8/2013

Content (18 Articles)

Letter to Editor

A 1-Year-Old Girl with a Gain-of-Function STAT1 Mutation Treated with Hematopoietic Stem Cell Transplantation

Juan Carlos Aldave, Enrique Cachay, Luis Núñez, Ausberto Chunga, Sergio Murillo, Sophie Cypowyj, Jacinta Bustamante, Anne Puel, Jean-Laurent Casanova, Armando Koo

Key Review Article

Clinical Manifestations of Disease in X-Linked Carriers of Chronic Granulomatous Disease

A. C. Battersby, C. M. Cale, D. Goldblatt, A. R. Gennery

Astute Clinician Report

IL-12Rβ1 Deficiency and Disseminated Mycobacterium tilburgii Disease

Kinda Schepers, Liliane Schandené, Jacinta Bustamante, Jean-Paul Van Vooren, Maylis de Suremain, Jean-Laurent Casanova, Jean Cyr Yombi, Frédérique Jacobs, Françoise Mascart, Jean-Christophe Goffard

Astute Clinician Report

Exome Sequencing Reveals RAG1 Mutations in a Child with Autoimmunity and Sterile Chronic Multifocal Osteomyelitis Evolving into Disseminated Granulomatous Disease

Andreas Reiff, Alexander G. Bassuk, Joseph A. Church, Elizabeth Campbell, Xinyu Bing, Polly J. Ferguson

Original Research

Complete Factor I Deficiency Due to Dysfunctional Factor I with Recurrent Aseptic Meningo-Encephalitis

Filomeen Haerynck, Patrick Stordeur, Johan Vandewalle, Rudy Van Coster, Victoria Bordon, Frans De Baets, Petra Schelstraete, Cédric Javaux, Marie-Rose Bouvry, Véronique Fremeaux-Bacchi, Joke Dehoorne

Original Research

Chronic Granulomatous Disease: A 25-Year Patient Registry Based on a Multistep Diagnostic Procedure, from the Referral Center for Primary Immunodeficiencies in Greece

Maria Raptaki, Ioanna Varela, Kleopatra Spanou, Marianna Tzanoudaki, Sofia Tantou, Manolis Liatsis, Nikki Constantinidou, Chryssa Bakoula, Dirk Roos, Maria Kanariou

Original Research

Severe Combined Immunodeficiency (SCID) in Canadian Children: A National Surveillance Study

Jacob Rozmus, Anne Junker, Melanie Laffin Thibodeau, Danielle Grenier, Stuart E. Turvey, Wadieh Yacoub, Joanne Embree, Elie Haddad, Joanne M. Langley, Rose Marie Ramsingh, Veeran-Anne Singh, Richard Long, Kirk R. Schultz

Original Research

IgA Deficiency & Mortality: A Population-Based Cohort Study

J. F. Ludvigsson, M. Neovius, L. Hammarström

Original Research

Clinical, Immunological, and Molecular Characterization of Hyper-IgM Syndrome Due to CD40 Deficiency in Eleven Patients

Bandar K. Al-Saud, Zobaida Al-Sum, Hanadi Alassiri, Abdulaziz Al-Ghonaium, Saleh Al-Muhsen, Hasan Al-Dhekri, Rand Arnaout, Osama Alsmadi, Esteban Borrero, Asm’a Abu-Staiteh, Faisal Rawas, Hamoud Al-Mousa, Abbas Hawwari

Original Research

Phenotypic Parameters Predict Time to Normalization in Infants with Hypogammaglobulinemia

Robert C. Van Winkle, Walter W. Hauck, Stephen J. McGeady

Anti-Cytokine Autoantibodies Preceding Onset of Autoimmune Polyendocrine Syndrome Type I Features in Early Childhood

A. S. B. Wolff, A. K. Sarkadi, L. Maródi, J. Kärner, E. Orlova, B. E. V. Oftedal, K. Kisand, É. Oláh, A. Meloni, A. G. Myhre, E. S. Husebye, R. Motaghedi, J. Perheentupa, P. Peterson, N. Willcox, A. Meager

Original Research

Intracellular Adenosine Inhibits IgE-Dependent Degranulation of Human Skin Mast Cells

Gregorio Gomez, Vincent Nardone, Sahar Lotfi-Emran, Wei Zhao, Lawrence B. Schwartz

Open Access Original Research

A Randomized, Controlled Dose-Finding Phase II Study of the M72/AS01 Candidate Tuberculosis Vaccine in Healthy PPD-Positive Adults

Jaime Montoya, Juan Antonio Solon, Soledad Rosanna C. Cunanan, Luz Acosta, Anne Bollaerts, Philippe Moris, Michel Janssens, Erik Jongert, Marie-Ange Demoitié, Pascal Mettens, Salvacion Gatchalian, Carlota Vinals, Joe Cohen, Opokua Ofori-Anyinam

Original Research

Higher NK Cell IFN-γ Production is Associated with Delayed HIV Disease Progression in LTNPs

Yongjun Jiang, Fangyuan Zhou, Yao Tian, Zining Zhang, Rongmei Kuang, Jing Liu, Xiaoxu Han, Qinghai Hu, Junjie Xu, Hong Shang

Open Access Original Research

The Retinoic Acid Receptor Agonist Am80 Increases Mucosal Inflammation in an IL-6 Dependent Manner During Trichuris muris Infection

Rebecca J. M. Hurst, Adam De Caul, Matthew C. Little, Hiroyuki Kagechika, Kathryn J. Else

Original Research

Celiac Disease Resolution After Allogeneic Bone Marrow Transplantation is Associated with Absence of Gliadin-Specific Memory Response by Donor-Derived Intestinal T-cells

Shomron Ben-Horin, Sylvie Polak-Charcon, Iris Barshack, Orit Picard, Ella Fudim, Miri Yavzori, Camila Avivi, Corine Mardoukh, Avichai Shimoni, Yehuda Chowers, Yaakov Maor

Brief Communication

A Novel Homozygous Mutation in G6PC3 Presenting as Cyclic Neutropenia and Severe Congenital Neutropenia in the Same Family

Abdullah A. Alangari, Abdulrahman Alsultan, Mohamed Elfaki Osman, Shamsa Anazi, Fowzan S. Alkuraya

Obesity Clinical Trial Summary

At a glance: The STEP trials

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.

Developed by: Springer Medicine

Highlights from the ACC 2024 Congress

Year in Review: Pediatric cardiology

Watch Dr. Anne Marie Valente present the last year's highlights in pediatric and congenital heart disease in the official ACC.24 Year in Review session.

Year in Review: Pulmonary vascular disease

The last year's highlights in pulmonary vascular disease are presented by Dr. Jane Leopold in this official video from ACC.24.

Year in Review: Valvular heart disease

Watch Prof. William Zoghbi present the last year's highlights in valvular heart disease from the official ACC.24 Year in Review session.

Year in Review: Heart failure and cardiomyopathies

Watch this official video from ACC.24. Dr. Biykem Bozkurt discusses last year's major advances in heart failure and cardiomyopathies.