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Journal of Clinical Immunology

Federica Pulvirenti, Francesco Cinetto, Antonio Pecoraro, Maria Carrabba, Ludovica Crescenzi, Raffaella Neri, Livia Bonanni, Giovanna Fabio, Carlo Agostini, Giuseppe Spadaro, Stefano Tabolli, Albert Farrugia, Isabella Quinti, Cinzia Milito
OBJECTIVE: We assessed the health-related quality of life (HRQoL) in CVID adults receiving different schedules of immunoglobulin replacement therapy (IgRT) by intravenous (IVIG), subcutaneous (SCIG), and facilitated (fSCIG) preparations. For these patients, IgRT schedule was chosen after a period focused on identifying the most suitable individual option. METHODS: Three hundred twenty-seven participants were enrolled in a prospective, observational, 18-month study...
January 15, 2019: Journal of Clinical Immunology
Fahad Alabbas, Ghaleb Elyamany, Omar Alsharif, Michael Hershfield, Isabelle Meyts
No abstract text is available yet for this article.
January 14, 2019: Journal of Clinical Immunology
Tomonari Shigemura, Norimoto Kobayashi, Kazunaga Agematsu, Osamu Ohara, Yozo Nakazawa
PURPOSE: We report normal neutrophil count in a mother, who carries the same ELANE mutation as her daughter with severe congenital neutropenia. We hypothesized that the mother possessed wild- and mutant-type clones and the wild-type clones could generate neutrophils, whereas the mutant clones could not. METHODS: We confirmed mutant variant ratio by sequence signals and measured the frequency of the mutant allele by subcloning in various cell types. We established the ELANE-mutated and non-mutated induced pluripotent stem cells (iPSCs) from the mother's T cells and compared granulopoiesis between these iPSCs...
January 12, 2019: Journal of Clinical Immunology
Anna Karastaneva, Daniela S Klobassa, Milen Minkov, Martin Benesch, Markus G Seidel
No abstract text is available yet for this article.
January 10, 2019: Journal of Clinical Immunology
Mary T Bausch-Jurken, Mary Hintermeyer, Jeffrey Woodliff, Shaoying Chen, Amy Rymaszewski, James Verbsky, John Routes
No abstract text is available yet for this article.
January 10, 2019: Journal of Clinical Immunology
Ekim Z Taskiran, Hafize E Sonmez, Can Kosukcu, Ece Tavukcuoglu, Gozde Yazici, Gunes Esendagli, Ezgi D Batu, Pelin O S Kiper, Yelda Bilginer, Mehmet Alikasifoglu, Seza Ozen
DNA ligase IV (LIG4) syndrome is a rare autosomal recessive disorder, manifesting with variable immune deficiency, growth failure, predisposition to malignancy, and cellular sensitivity to ionizing radiation. The facial features are subtle and variable, as well. Herein, we described an 18-year-old boy, the first child of consanguineous parents who presented with Behçet's disease (BD)-like phenotype, developmental delay, and dysembryoplastic neuroepithelial tumor (DNET). Whole-exome sequencing revealed a homozygous p...
January 8, 2019: Journal of Clinical Immunology
Makiko Egawa, Kohsuke Imai, Yoko Taketani, Tomohiro Morio, Naoyuki Miyasaka
No abstract text is available yet for this article.
January 7, 2019: Journal of Clinical Immunology
Samin Sharafian, Vahid Ziaee, Mohammad Shahrooei, Mahsa Ahadi, Nima Parvaneh
No abstract text is available yet for this article.
January 5, 2019: Journal of Clinical Immunology
Jaclyn A Bjelac, Jennifer R Yonkof, James Fernandez
PURPOSE: Primary immunodeficiency (PID) represents disorders with a spectrum of clinical presentations. The medical community seeks clinical features to prompt evaluation for immunodeficiency given improved prognosis with early identification. We hoped to identify clinical characteristics that would improve the diagnostic accuracy of the widely disseminated Jeffrey Modell Foundation warning signs for immunodeficiency. METHODS: We performed a retrospective chart review in a two-center North American cohort of patients with PID...
January 4, 2019: Journal of Clinical Immunology
David Buchbinder, Fabian Hauck, Michael H Albert, Anita Rack, Shahrzad Bakhtiar, Anna Shcherbina, Elena Deripapa, Kathleen E Sullivan, Ludmila Perelygina, Marc Eloit, Bénédicte Neven, Philippe Pérot, Despina Moshous, Félipe Suarez, Christine Bodemer, Francisco A Bonilla, Louise E Vaz, Alfons L Krol, Christoph Klein, Mikko Seppanen, Diane J Nugent, Jasjit Singh, Hans D Ochs
The association of immunodeficiency-related vaccine-derived rubella virus (iVDRV) with cutaneous and visceral granulomatous disease has been reported in patients with primary immunodeficiency disorders (PIDs). The majority of these PID patients with rubella-positive granulomas had DNA repair disorders. To support this line of inquiry, we provide additional descriptive data on seven previously reported patients with Nijmegen breakage syndrome (NBS) (n = 3) and ataxia telangiectasia (AT) (n = 4) as well as eight previously unreported patients with iVDRV-induced cutaneous granulomas and DNA repair disorders including NBS (n = 1), AT (n = 5), DNA ligase 4 deficiency (n = 1), and Artemis deficiency (n = 1)...
January 3, 2019: Journal of Clinical Immunology
Rashmi Rikhi, Sagar Bhattad, Ankur Jindal, Biman Saikia, Ravinder Garg, Amit Rawat, Deepti Suri, Surjit Singh
No abstract text is available yet for this article.
January 3, 2019: Journal of Clinical Immunology
Carlos R Ferreira, Yanick J Crow, William A Gahl, Pamela J Gardner, Raphaela Goldbach-Mansky, Sun Hur, Adriana Almeida de Jesús, Michele Nehrebecky, Ji Woo Park, Tracy A Briggs
PURPOSE: Singleton-Merten syndrome manifests as dental dysplasia, glaucoma, psoriasis, aortic calcification, and skeletal abnormalities including tendon rupture and arthropathy. Pathogenic variants in IFIH1 have previously been associated with the classic Singleton-Merten syndrome, while variants in DDX58 has been described in association with a milder phenotype, which is suggested to have a better prognosis. We studied a family with severe, "classic" Singleton-Merten syndrome...
December 20, 2018: Journal of Clinical Immunology
Dina M Aresvik, Torstein Øverland, Kari Lima, Rolf D Pettersen, Tore G Abrahamsen
PURPOSE: Immunodeficiency is one of the key features of 22q11.2 deletion syndrome (del), and it is seen in approximately 75% of the patients. The degree of immunodeficiency varies widely, from no circulating T cells to normal T cell counts. It has been hypothesized that the low number of T cells may at least in part be due to increased apoptosis of T cells. Increased spontaneous T cell apoptosis has been reported in one patient with 22q11.2del, but this has not been further investigated...
December 19, 2018: Journal of Clinical Immunology
Jérôme Hadjadj, Aurélien Guffroy, Christophe Delavaud, Guillaume Taieb, Isabelle Meyts, Anne Fresard, Nathalie Streichenberger, Anne-Sophie L'Honneur, Flore Rozenberg, Maud D'Aveni, Claire Aguilar, Jérémie Rosain, Capucine Picard, Nizar Mahlaoui, Marc Lecuit, Olivier Hermine, Olivier Lortholary, Felipe Suarez
PURPOSE: Progressive multifocal leukoencephalopathy (PML) is a rare but severe demyelinating disease caused by the polyomavirus JC (JCV) in immunocompromised patients. We report a series of patients with primary immune deficiencies (PIDs) who developed PML. METHODS: Retrospective observational study including PID patients with PML. Clinical, immunological, imaging features, and outcome are provided for each patient. RESULTS: Eleven unrelated patients with PIDs developed PML...
December 14, 2018: Journal of Clinical Immunology
Katharina Schütz, Diana Alecsandru, Bodo Grimbacher, Jamanda Haddock, Annemarie Bruining, Gertjan Driessen, Esther de Vries, Peter M van Hagen, Ieneke Hartmann, Francesco Fraioli, Cinzia Milito, Milica Mitrevski, Isabella Quinti, Goffredo Serra, Peter Kelleher, Michael Loebinger, Jiri Litzman, Vera Postranecka, Vojtech Thon, Judith Babar, Alison M Condliffe, Andrew Exley, Dinakantha Kumararatne, Nick Screaton, Alison Jones, Maria P Bondioni, Vassilios Lougaris, Alessandro Plebani, Annarosa Soresina, Cesare Sirignano, Giuseppe Spadaro, Nermeen Galal, Luis I Gonzalez-Granado, Sabine Dettmer, Robert Stirling, Helen Chapel, Mary Lucas, Smita Patel, Claire-Michele Farber, Isabelle Meyts, Arpan K Banerjee, Scott Hackett, John R Hurst, Klaus Warnatz, Benjamin Gathmann, Ulrich Baumann
Studies of chest computed tomography (CT) in patients with primary antibody deficiency syndromes (ADS) suggest a broad range of bronchial pathology. However, there are as yet no multicentre studies to assess the variety of bronchial pathology in this patient group. One of the underlying reasons is the lack of a consensus methodology, a prerequisite to jointly document chest CT findings. We aimed to establish an international platform for the evaluation of bronchial pathology as assessed by chest CT and to describe the range of bronchial pathologies in patients with antibody deficiency...
December 13, 2018: Journal of Clinical Immunology
Ayca Kiykim, Louis Marie Charbonnier, Arzu Akcay, Elif Karakoc-Aydiner, Ahmet Ozen, Gulyuz Ozturk, Talal A Chatila, Safa Baris
PURPOSE: Human signal transducer and activator of transcription 1 (STAT1) gain-of-function (GOF) mutations present with a broad range of manifestations ranging from chronic mucocutaneous candidiasis and autoimmunity to combined immunodeficiency (CID). So far, there is very limited experience with hematopoietic stem cell transplantation (HSCT) as a therapeutic modality in this disorder. Here, we describe two patients with heterozygous STAT1 GOF mutations mimicking CID who were treated with HSCT...
December 13, 2018: Journal of Clinical Immunology
Hamza A Alghamdi, Suha A Tashkandi, Eman M Alidrissi, Rawan D Aledielah, Khelad A AlSaidi, Enas S Alharbi, Murad K Habazi, Mofareh S Alzahrani
No abstract text is available yet for this article.
December 3, 2018: Journal of Clinical Immunology
Ying Wang, Wenjie Wang, Luyao Liu, Jia Hou, Wenjing Ying, Xiaoying Hui, Qinhua Zhou, Danru Liu, Haili Yao, Jinqiao Sun, Xiaochuan Wang
PURPOSE: We aimed to report the clinical manifestations and immunological features of activated phosphatidylinositol 3-kinase δ syndrome 1 (APDS1) in a Chinese cohort. Moreover, we investigated the efficacy and safety of rapamycin therapy for Chinese patients with APDS1. METHODS: Fifteen Chinese patients with APDS1 from 14 unrelated families were enrolled in this study. These patients were diagnosed based on clinical features, immunological phenotype, and whole-exome sequencing...
November 29, 2018: Journal of Clinical Immunology
Thomas A Fleisher, Jordan S Orange
No abstract text is available yet for this article.
November 28, 2018: Journal of Clinical Immunology
Maria Francisca Moraes-Fontes, Íris Caramalho, Amy P Hsu, Steven M Holland, Manuel Abecasis
No abstract text is available yet for this article.
November 26, 2018: Journal of Clinical Immunology
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