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Journal of Clinical Immunology

Jian Li, Dror S Shouval, Andria L Doty, Scott B Snapper, Sarah C Glover
No abstract text is available yet for this article.
January 7, 2017: Journal of Clinical Immunology
Pandiarajan Vignesh, Amit Rawat, Ankur Kumar, Deepti Suri, Anju Gupta, Yu L Lau, Koon W Chan, Surjit Singh
Chronic granulomatous disease (CGD) is an inheritable and genetically heterogeneous disease resulting from mutations in different subcomponents of the NADPH oxidase system. Mutations in the NCF2 gene account for <5% of all cases of CGD. We analyzed the clinical and laboratory findings of CGD with mutations in the NCF2 gene from amongst our cohort of CGD patients. A homozygous mutation (c.835_836delAC, p.T279fsX294), a deletion in NCF2 gene was found in two cases. In the third case, two heterozygous mutations were detected, IVS13-2A>T on one allele and c...
December 29, 2016: Journal of Clinical Immunology
Chen-Yen Kuo, Shang-Yu Wang, Han-Po Shih, Kun-Hua Tu, Wen-Chi Huang, Jing-Ya Ding, Chia-Hao Lin, Chun-Fu Yeh, Mao-Wang Ho, Shi-Chuan Chang, Chi-Ying He, Hung-Kai Chen, Chen-Hsuan Ho, Chen-Hsiang Lee, Chih-Yu Chi, Cheng-Lung Ku
INTRODUCTION: Autoantibodies to granulocyte-macrophage colony-stimulating factor (GM-CSF) can cause acquired pulmonary alveolar proteinosis (PAP). Cases of acquired PAP susceptible to typical respiratory pathogens and opportunistic infections have been reported. Anti-GM-CSF autoantibodies have been reported in a few patients with cryptococcal meningitis. This study evaluated the presence of neutralizing anti-GM-CSF autoantibodies in patients without known congenital or acquired immunodeficiency with severe pulmonary or extrapulmonary cryptococcal infection but without PAP...
December 24, 2016: Journal of Clinical Immunology
Ruud W J Meijers, Katarzyna Dzierzanowska-Fangrat, Magdalena Zborowska, Iwona Solarska, Dennis Tielemans, Bob A C van Turnhout, Gertjan Driessen, Mirjam van der Burg, Jacques J M van Dongen, Krystyna H Chrzanowska, Anton W Langerak
PURPOSE: The Nijmegen breakage syndrome (NBS) is an inherited genetic disorder characterized by a typical facial appearance, microcephaly, growth retardation, immunodeficiency, and a strong predisposition to malignancies, especially of lymphoid origin. NBS patients have a mutation in the NBN gene which involves the repair of DNA double-strand breaks (DSBs). Here we studied the peripheral T cell compartment of NBS patients with a focus on immunological senescence. METHODS: The absolute numbers and frequencies of the different T cell subsets were determined in NBS patients from young age till adulthood and compared to age-matched healthy individuals (HI)...
December 21, 2016: Journal of Clinical Immunology
Alan Nguyen, Kiran Patel, Jennifer Puck, Morna Dorsey
No abstract text is available yet for this article.
December 13, 2016: Journal of Clinical Immunology
Christoph Klein
Severe congenital neutropenia (SCN), originally described by the Swedish pediatrician Rolf Kostmann, constitutes a heterogeneous disorder associated with a dramatic decrease of peripheral neutrophil granulocytes. Patients suffer from life-threatening bacterial infections unless treated by recombinant human granulocyte colony stimulating factor (G-CSF) or allogeneic hematopoietic stem cells. This review is focused on the SCN variant caused by mutations in HCLS1 Associated Protein X-1 (HAX1) (SCN3, "Kostmann Disease")...
December 10, 2016: Journal of Clinical Immunology
Noella Maria Delia Pereira, Ira Shah
No abstract text is available yet for this article.
December 10, 2016: Journal of Clinical Immunology
Gillian I Rice, Isabelle Melki, Marie-Louise Frémond, Tracy A Briggs, Mathieu P Rodero, Naoki Kitabayashi, Anthony Oojageer, Brigitte Bader-Meunier, Alexandre Belot, Christine Bodemer, Pierre Quartier, Yanick J Crow
PURPOSE: Increased type I interferon is considered relevant to the pathology of a number of monogenic and complex disorders spanning pediatric rheumatology, neurology, and dermatology. However, no test exists in routine clinical practice to identify enhanced interferon signaling, thus limiting the ability to diagnose and monitor treatment of these diseases. Here, we set out to investigate the use of an assay measuring the expression of a panel of interferon-stimulated genes (ISGs) in children affected by a range of inflammatory diseases...
December 9, 2016: Journal of Clinical Immunology
Mark Parta, Jennifer Cuellar-Rodriguez, Alexandra F Freeman, Juan Gea-Banacloche, Steven M Holland, Dennis D Hickstein
We performed allogeneic hematopoietic stem cell transplantation in a patient with GATA2 deficiency and an Epstein-Barr virus (EBV)-related spindle cell tumor involving the liver and possibly bone. He received a matched-related donor transplant with donor peripheral blood stem cells following a myeloablative conditioning regimen. He achieved rapid and high levels of donor engraftment and had complete reversal of the clinical and immunologic phenotype of MonoMAC/GATA2 deficiency and eradication of the EBV tumors after 3 years of follow-up...
December 6, 2016: Journal of Clinical Immunology
Gregory M T Guilcher, Nicola A M Wright, Tony H Truong, Andrew Daly, Victor A Lewis
No abstract text is available yet for this article.
December 3, 2016: Journal of Clinical Immunology
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
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
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
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
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
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
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
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
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
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
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