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Journal of Clinical Immunology

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https://www.readbyqxmd.com/read/27900584/low-t-cell-numbers-resembling-t-b-scid-in-a-patient-with-wiskott-aldrich-syndrome-and-the-outcome-of-two-hematopoietic-stem-cell-transplantations
#1
LETTER
Deniz Cagdas, Selin Aytac, Barış Kuskonmaz, Tadashi Ariga, Mirjam van der Burg, Duygu Uckan Cetinkaya, Özden Sanal, İlhan Tezcan
No abstract text is available yet for this article.
November 30, 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/27896523/a-cd57-ctl-degranulation-assay-effectively-identifies-familial-hemophagocytic-lymphohistiocytosis-type-3-patients
#2
Masayuki Hori, Takahiro Yasumi, Saeko Shimodera, Hirofumi Shibata, Eitaro Hiejima, Hirotsugu Oda, Kazushi Izawa, Tomoki Kawai, Masataka Ishimura, Naoko Nakano, Ryutaro Shirakawa, Ryuta Nishikomori, Hidetoshi Takada, Satoshi Morita, Hisanori Horiuchi, Osamu Ohara, Eiichi Ishii, Toshio Heike
PURPOSE: Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) is a genetic disorder that results in immune dysregulation. It requires prompt and accurate diagnosis. A natural killer (NK) cell degranulation assay is often used to screen for FHL3 patients. However, we recently encountered two cases of late-onset FHL3 carrying novel UNC13D missense mutations: in these cases, the degranulation assays using freshly isolated and interleukin (IL)-2-activated NK cells yielded contradictory results...
November 28, 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/27888368/primary-immunodeficiency-classification-on-smartphone
#3
Leïla Jeddane, Hind Ouair, Ibtihal Benhsaien, Jalila El Bakkouri, Ahmed Aziz Bousfiha
No abstract text is available yet for this article.
November 25, 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/27873106/lack-of-clinical-hypersensitivity-to-penicillin-antibiotics-in-common-variable-immunodeficiency
#4
LETTER
Heather Hartman, Karrie Schneider, Mary Hintermeyer, Mary Bausch-Jurken, Ramsay Fuleihan, Kathleen E Sullivan, Charlotte Cunningham-Rundles, Francisco A Bonilla, James Verbsky, John Routes
No abstract text is available yet for this article.
November 22, 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/27873105/newborn-screening-for-severe-primary-immunodeficiency-diseases-in-sweden-a-2-year-pilot-trec-and-krec-screening-study
#5
Michela Barbaro, Annika Ohlsson, Stephan Borte, Susanne Jonsson, Rolf H Zetterström, Jovanka King, Jacek Winiarski, Ulrika von Döbeln, Lennart Hammarström
Newborn screening for severe primary immunodeficiencies (PID), characterized by T and/or B cell lymphopenia, was carried out in a pilot program in the Stockholm County, Sweden, over a 2-year period, encompassing 58,834 children. T cell receptor excision circles (TREC) and kappa-deleting recombination excision circles (KREC) were measured simultaneously using a quantitative PCR-based method on DNA extracted from dried blood spots (DBS), with beta-actin serving as a quality control for DNA quantity. Diagnostic cutoff levels enabling identification of newborns with milder and reversible T and/or B cell lymphopenia were also evaluated...
November 21, 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/27853979/erratum-to-clinical-and-molecular-features-of-38-children-with-chronic-granulomatous-disease-in-mainland-china
#6
Huan Xu, Wen Tian, Shu-Juan Li, Lu-Ying Zhang, Wei Liu, Yao Zhao, Zhi-Yong Zhang, Xue-Mei Tang, Mo Wang, Dao-Qi Wu, Ji-Sheng Shi, Yuan Ding, Xiao-Dong Zhao, Xi-Qiang Yang, Li-Ping Jiang
No abstract text is available yet for this article.
November 16, 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/27844301/ad-hyper-ige-syndrome-due-to-a-novel-loss-of-function-mutation-in-stat3-a-diagnostic-pursuit-won-by-clinical-acuity
#7
LETTER
Leen Moens, Heidi Schaballie, Barbara Bosch, Arnout Voet, Xavier Bossuyt, Jean-Laurent Casanova, Stephanie Boisson-Dupuis, Stuart G Tangye, Isabelle Meyts
No abstract text is available yet for this article.
November 14, 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/27838798/ol-eda-id-syndrome-a-novel-hypomorphic-nemo-mutation-associated-with-a-severe-clinical-presentation-and-transient-hlh
#8
LETTER
Silvia Ricci, Francesca Romano, Francesco Nieddu, Capucine Picard, Chiara Azzari
No abstract text is available yet for this article.
November 12, 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/27826875/idiopathic-non-histaminergic-angioedema-successful-treatment-with-omalizumab-in-five-patients
#9
Charles Faisant, Aurélie Du Thanh, Catherine Mansard, Alban Deroux, Isabelle Boccon-Gibod, Laurence Bouillet
Idiopathic non-histaminergic acquired angioedema (InH-AAE) is a rare disease characterized by AE resistant to antihistamines and a chronic course. We report five new cases of InH-AAE (two women and three men) with a rapid and dramatic response to the anti-immunoglobulin-E antibody omalizumab. In our literature review, we found 13 other relevant cases with a good response to this treatment. Overall, in 6 out of 18 patients, the doses of omalizumab required to prevent recurrences of attacks were higher than the licensed dose for chronic urticaria...
November 8, 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/27815752/hematopoietic-stem-cell-transplantation-for-xiap-deficiency-in-japan
#10
Shintaro Ono, Tsubasa Okano, Akihiro Hoshino, Masakatsu Yanagimachi, Kazuko Hamamoto, Yozo Nakazawa, Toshihiko Imamura, Masaei Onuma, Hidetaka Niizuma, Yoji Sasahara, Hiroshi Tsujimoto, Taizo Wada, Reiko Kunisaki, Masatoshi Takagi, Kohsuke Imai, Tomohiro Morio, Hirokazu Kanegane
BACKGROUND: X-linked inhibitor of apoptosis protein (XIAP) deficiency is a rare immunodeficiency that is characterized by recurrent hemophagocytic lymphohistiocytosis (HLH) and splenomegaly and sometimes associated with refractory inflammatory bowel disease (IBD). Although hematopoietic stem cell transplantation (HSCT) is the only curative therapy, the outcomes of HSCT for XIAP deficiency remain unsatisfactory compared with those for SLAM-associated protein deficiency and familial HLH...
November 4, 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/27815751/a-13-year-old-child-with-lupus-like-nephritis-and-22q11-microduplication-syndrome
#11
LETTER
Zoi Dorothea Pana, Maria Stamou, Ioannis Kalevrosoglou, Ioannis Kyriakidis, Maria Hatzistilianou
No abstract text is available yet for this article.
November 4, 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/27807805/identification-of-heterozygous-single-and-multi-exon-deletions-in-il7r-by-whole-exome-sequencing
#12
Karin R Engelhardt, Yaobo Xu, Angela Grainger, Mila G C Germani Batacchi, David J Swan, Joseph D P Willet, Intan J Abd Hamid, Philipp Agyeman, Dawn Barge, Shahnaz Bibi, Lucy Jenkins, Terence J Flood, Mario Abinun, Mary A Slatter, Andrew R Gennery, Andrew J Cant, Mauro Santibanez Koref, Kimberly Gilmour, Sophie Hambleton
PURPOSE: We aimed to achieve a retrospective molecular diagnosis by applying state-of-the-art genomic sequencing methods to past patients with T-B+NK+ severe combined immunodeficiency (SCID). We included identification of copy number variations (CNVs) by whole exome sequencing (WES) using the CNV calling method ExomeDepth to detect gene alterations for which routine Sanger sequencing analysis is not suitable, such as large heterozygous deletions. METHODS: Of a total of 12 undiagnosed patients with T-B+NK+ SCID, we analyzed eight probands by WES, using GATK to detect single nucleotide variants (SNVs) and small insertions and deletions (INDELs) and ExomeDepth to detect CNVs...
November 2, 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/27796699/skin-necrosis-following-subcutaneous-immunoglobulin-scig
#13
LETTER
Emily Carne, Mark Ponsford, Tariq El-Shanawany, Stephen Jolles
No abstract text is available yet for this article.
October 28, 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/27770395/large-deletion-of-magt1-gene-in-a-patient-with-classic-kaposi-sarcoma-cd4-lymphopenia-and-ebv-infection
#14
Immacolata Brigida, Maria Chiriaco, Silvia Di Cesare, Davide Cittaro, Gigliola Di Matteo, Stefania Giannelli, Dejan Lazarevic, Matteo Zoccolillo, Elia Stupka, Alessandro Jenkner, Paola Francalanci, Susanna Livadiotti, Aaron Morawski, Juan Ravell, Michael Lenardo, Caterina Cancrini, Alessandro Aiuti, Andrea Finocchi
No abstract text is available yet for this article.
October 21, 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/27766541/early-identification-of-lung-fungal-infections-in-chronic-granulomatous-disease-cgd-using-multidetector-computer-tomography
#15
Maria Pia Bondioni, Vassilios Lougaris, Giuseppe Di Gaetano, Tiziana Lorenzini, Annarosa Soresina, Francesco Laffranchi, Diego Gatta, Alessandro Plebani
PURPOSE: The purpose of this study is to evaluate the possibility of early detection of pulmonary fungal infections by lung CT scan in chronic granulomatous disease (CGD). METHODS: A retrospective study on 14 patients affected with CGD for a total of 18 infectious episodes was performed. Revision of clinical data and CT scan analysis before and after treatment was performed. RESULTS: The presence of lung nodules <30 mm was evaluated in 18 infectious episodes in 14 patients...
October 21, 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/27747465/targeted-sequencing-and-immunological-analysis-reveal-the-involvement-of-primary-immunodeficiency-genes-in-pediatric-ibd-a-japanese-multicenter-study
#16
Tasuku Suzuki, Yoji Sasahara, Atsuo Kikuchi, Humihiko Kakuta, Toshihiko Kashiwabara, Takashi Ishige, Yoshiko Nakayama, Masanori Tanaka, Akihiro Hoshino, Hirokazu Kanegane, Daiki Abukawa, Shigeo Kure
PURPOSE: Pediatric inflammatory bowel disease (IBD) is a heterogeneous disorder caused by multiple factors. Although genetic and immunological analyses are required for a definitive diagnosis, no reports of a comprehensive genetic study of a Japanese population are available. METHODS: In total, 35 Japanese patients <16 years of age suffering from IBD, including 27 patients aged <6 years with very early-onset IBD, were enrolled in this multicenter study. Exome and targeted gene panel sequencing was performed for all patients...
October 17, 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/27714565/asthma-and-hypogammaglobulinemia-an-asthma-phenotype-with-low-type-2-inflammation
#17
Clairelyne Dupin, Sylvain Marchand-Adam, Olivier Favelle, Romain Costes, Philippe Gatault, Philippe Diot, Leslie Grammatico-Guillon, Laurent Guilleminault
PURPOSE: Little is known about hypogammaglobulinemia (HGG) in asthma patients. No data are available on the characteristics of adult patients with asthma and HGG. METHODS: We conducted a retrospective monocentric study between January 2006 and December 2012. Asthma patients with a serum immunoglobulin (Ig) quantitative analysis were included and classified into two groups depending on their serum IgG concentration: presence or absence of HGG. Clinical, biological, functional, and radiologic characteristics were compared in univariate and multivariate analysis, using a logistic regression model...
October 6, 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/27704236/neurologic-complications-of-common-variable-immunodeficiency
#18
Jenna Thuc-Uyen Nguyen, Ari Green, Michael R Wilson, Joseph L DeRisi, Katherine Gundling
Common variable immunodeficiency is a rare disorder of immunity associated with a myriad of clinical manifestations including recurrent infections, autoimmunity, and malignancy. Though rare, neurologic complications have been described in a small number of case reports and case series of CVID patients. In this article, we present a patient with CVID who suffered significant neurologic morbidity and categorize the reported range of neurologic complications associated with CVID. Our case highlights the complex nature of neurologic manifestations in CVID patients, and our review of the current database suggests that infection and inflammatory neurologic disorders are the cause of most neurologic presentations...
October 4, 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/27699572/primary-immunodeficiency-diseases-in-oman-10-year-experience-in-a-tertiary-care-hospital
#19
Salem Al-Tamemi, Shafiq Ur Rehman Naseem, Nabila Al-Siyabi, Ibtisam El-Nour, Abdulhakim Al-Rawas, David Dennison
PURPOSE: Primary immunodeficiency (PID) diseases are rare, complex medical disorders that often are overlooked in clinical settings. There are emerging reports of PID from Middle Eastern populations. This study describes the features of PID patients in a tertiary care setting in Oman and compares them with regional and worldwide reports. METHOD: Sultan Qaboos University Hospital (SQUH) is an academic tertiary care-level hospital for specialized healthcare, including PID patients...
October 3, 2016: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/27699571/clinical-immunological-and-molecular-findings-of-patients-with-p47-phox-defect-chronic-granulomatous-disease-cgd-in-indian-families
#20
Manasi Kulkarni, Mukesh Desai, Maya Gupta, Aparna Dalvi, Prasad Taur, Antony Terrance, Sunil Bhat, Mamta Manglani, Revathi Raj, Ira Shah, Manisha Madkaikar
Chronic granulomatous disease (CGD) is a group of inherited disorder of phagocytes, resulting from mutations in the components of the NADPH oxidase complex. Reduced or absent oxygen radical synthesis seen in these patients leads to impaired killing of intracellular bacteria and fungi. CGD clinically presents with recurrent and life-threatening infections as well as granulomatous inflammatory responses. p47(phox) encoded by the NCF1 gene is the most common autosomal recessive form of CGD which is often clinically milder...
October 3, 2016: Journal of Clinical Immunology
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