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Journal of Clinical Immunology

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https://www.readbyqxmd.com/read/30219982/gastric-cancer-screening-in-common-variable-immunodeficiency
#1
David K van der Poorten, Duncan McLeod, Golo Ahlenstiel, Scott Read, Avelyn Kwok, Cositha Santhakumar, Milan Bassan, Suzanne Culican, David Campbell, Sue W J Wong, Louise Evans, Bilel Jideh, Alisa Kane, Constance H Katelaris, Karuna Keat, Yanna Ko, Jessie A Lee, Sandhya Limaye, Ming Wei Lin, Ari Murad, Martina Rafferty, Dan Suan, Sanjay Swaminathan, Sean D Riminton, Catherine Toong, Lucinda J Berglund
Individuals with common variable immunodeficiency (CVID) have an increased risk of gastric cancer, and gastrointestinal lymphoma, yet screening for premalignant gastric lesions is rarely offered routinely to these patients. Proposed screening protocols are not widely accepted and are based on gastric cancer risk factors that are not applicable to all CVID patients. Fifty-two CVID patients were recruited for screening gastroscopy irrespective of symptoms or blood results and were compared to 40 controls presenting for gastroscopy for other clinical indications...
September 15, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/30215144/correction-to-diabetes-renal-and-cardiovascular-disease-in-p47-phox-chronic-granulomatous-disease
#2
LETTER
Gouri P Hule
No abstract text is available yet for this article.
September 13, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/30167939/palatal-ulcer-in-leukocyte-adhesion-deficiency-an-unusual-occurrence
#3
LETTER
Avinash Sharma, Ankur K Jindal, Rakesh K Pilania, Piyush Gautam, Subhash Daroch
No abstract text is available yet for this article.
August 30, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/30151618/allogeneic-hematopoietic-cell-transplantation-in-patients-with-primary-immunodeficiencies-in-korea-eleven-year-experience-in-a-single-center
#4
Eun Sang Yi, Young Bae Choi, Na Hee Lee, Ji Won Lee, Ki Woong Sung, Hong Hoe Koo, Eun-Sook Kang, Yae-Jean Kim, Keon Hee Yoo
PURPOSE: We aimed to report our single-center experience of allogeneic hematopoietic cell transplantation (HCT), which has been the only curative option for certain patients with lethal primary immunodeficiencies (PIDs). METHODS: We summarized the results of HCT performed for patients with PIDs for 11 consecutive years from 2006 to 2016 at Samsung Medical Center, Seoul, Korea. Twenty-six patients with PIDs received HCT. Most had chronic granulomatous disease (42...
August 27, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/30146668/xl-eda-id-presenting-with-congenital-duodenal-atresia-and-perforations
#5
LETTER
Yusuke Mitani, Taizo Wada, Yusuke Matsuda, Seisho Sakai, Akihiro Yachie
No abstract text is available yet for this article.
August 27, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/30006913/low-rates-of-poliovirus-antibodies-in-primary-immunodeficiency-patients-on-regular-intravenous-immunoglobulin-treatment
#6
Beatriz T Costa-Carvalho, Kathleen E Sullivan, Patrícia M Fontes, Fernanda Aimé-Nobre, Isabela G S Gonzales, Elaine S Lima, Celso Granato, Maria Isabel de Moraes-Pinto
PURPOSE: Poliovirus has been nearly eliminated as part of a world-wide effort to immunize and contain circulating wild-type polio. Nevertheless, poliovirus has been detected in water supplies and represents a threat to patients with humoral immunodeficiencies where infection can be fatal. To define the risk, we analyzed antibodies to poliovirus 1, 2, and 3 in serum samples collected over a year from patients with primary immunodeficiency diseases (PID) on regular intravenous immunoglobulin (IVIG) replacement...
July 14, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29995221/a-variety-of-alu-mediated-copy-number-variations-can-underlie-il-12r%C3%AE-1-deficiency
#7
Jérémie Rosain, Carmen Oleaga-Quintas, Caroline Deswarte, Hannah Verdin, Stéphane Marot, Garyfallia Syridou, Mahboubeh Mansouri, S Alireza Mahdaviani, Edna Venegas-Montoya, Maria Tsolia, Mehrnaz Mesdaghi, Liudmyla Chernyshova, Yuriy Stepanovskiy, Nima Parvaneh, Davood Mansouri, Sigifredo Pedraza-Sánchez, Anastasia Bondarenko, Sara E Espinosa-Padilla, Marco A Yamazaki-Nakashimada, Alejandro Nieto-Patlán, Gaspard Kerner, Nathalie Lambert, Corinne Jacques, Emilie Corvilain, Mélanie Migaud, Virginie Grandin, María T Herrera, Fabienne Jabot-Hanin, Stéphanie Boisson-Dupuis, Capucine Picard, Patrick Nitschke, Anne Puel, Frederic Tores, Laurent Abel, Lizbeth Blancas-Galicia, Elfride De Baere, Christine Bole-Feysot, Jean-Laurent Casanova, Jacinta Bustamante
PURPOSE: Inborn errors of IFN-γ immunity underlie Mendelian susceptibility to mycobacterial disease (MSMD). Autosomal recessive complete IL-12Rβ1 deficiency is the most frequent genetic etiology of MSMD. Only two of the 84 known mutations are copy number variations (CNVs), identified in two of the 213 IL-12Rβ1-deficient patients and two of the 164 kindreds reported. These two CNVs are large deletions found in the heterozygous or homozygous state. We searched for novel families with IL-12Rβ1 deficiency due to CNVs...
July 11, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29934865/utility-of-ruxolitinib-in-a-child-with-chronic-mucocutaneous-candidiasis-caused-by-a-novel-stat1-gain-of-function-mutation
#8
Markéta Bloomfield, Veronika Kanderová, Zuzana Paračková, Petra Vrabcová, Michael Svatoň, Eva Froňková, Martina Fejtková, Radana Zachová, Michal Rataj, Irena Zentsová, Tomáš Milota, Adam Klocperk, Tomáš Kalina, Anna Šedivá
PURPOSE: Signal transducer and activator of transcription 1 gain-of-function (STAT1 GOF) mutations are the most common cause of chronic mucocutaneous candidiasis (CMC). We aim to report the effect of oral ruxolitinib, the Janus kinase (JAK) family tyrosine kinase inhibitor, on clinical and immune status of a 12-year-old boy with severe CMC due to a novel STAT1 GOF mutation. METHODS: Clinical features and laboratory data were analyzed, particularly lymphocyte subsets, ex vivo IFNγ- and IFNα-induced STAT1, 3, 5 phosphorylation dynamics during the course of JAK1/2 inhibition therapy, and Th17-related, STAT1- and STAT3-inducible gene expression before and during the treatment...
June 22, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/30187308/a-brief-historical-perspective-on-the-pathological-consequences-of-excessive-type-i-interferon-exposure-in-vivo
#9
EDITORIAL
Yanick J Crow, Pierre Lebon, Jean-Laurent Casanova, Ion Gresser
No abstract text is available yet for this article.
August 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/30159811/adult-onset-myopathy-in-a-patient-with-hypomorphic-rag2-mutations-and-combined-immune-deficiency
#10
LETTER
Sarah E Henrickson, Jolan E Walter, Colin Quinn, Jennifer A Kanakry, Tanya Bardakjian, Dimana Dimitrova, Boglarka Ujhazi, Krisztian Csomos, Marita Bosticardo, Kerry Dobbs, MacLean Nasrallah, Luigi D Notarangelo, Steven M Holland, Olajumoke Fadugba
No abstract text is available yet for this article.
August 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/30136218/inherited-card9-deficiency-invasive-disease-caused-by-ascomycete-fungi-in-previously-healthy-children-and-adults
#11
REVIEW
Emilie Corvilain, Jean-Laurent Casanova, Anne Puel
Autosomal recessive CARD9 deficiency underlies life-threatening, invasive fungal infections in otherwise healthy individuals normally resistant to other infectious agents. In less than 10 years, 58 patients from 39 kindreds have been reported in 14 countries from four continents. The patients are homozygous (n = 49; 31 kindreds) or compound heterozygous (n = 9; 8 kindreds) for 22 different CARD9 mutations. Six mutations are recurrent, probably due to founder effects. Paradoxically, none of the mutant alleles has been experimentally demonstrated to be loss-of-function...
August 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/30105620/long-term-health-outcome-and-quality-of-life-post-hsct-for-il7r%C3%AE-artemis-rag1-and-rag2-deficient-severe-combined-immunodeficiency-a-single-center-report
#12
Intan Juliana Abd Hamid, Mary A Slatter, Fiona McKendrick, Mark S Pearce, Andrew R Gennery
Hematopoietic stem cell transplantation (HSCT) is curative for severe combined immunodeficiency (SCID), but data on long-term impact of pre-HSCT chemotherapy, immune reconstitution and quality of life (QoL) of specific SCID genotypes are limited. We evaluated the long-term immune-reconstitution, health outcome and QoL in IL7Rα SCID, Artemis and RAG1 and 2 SCID survivors > 2 years post-HSCT in our center. Clinical data and immune reconstitution parameters were collated, and patients/families answered PedsQL generic core scale v4...
August 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/30099695/correction-to-novel-mutations-in-rasgrp1-are-associated-with-immunodeficiency-immune-dysregulation-and-ebv-induced-lymphoma
#13
Ido Somekh, Benjamin Marquardt, Yanshan Liu, Meino Rohlfs, Sebastian Hollizeck, Musa Karakukcu, Ekrem Unal, Ebru Yilmaz, Turkan Patiroglu, Murat Cansever, Shirly Frizinsky, Vicktoria Vishnvenskia-Dai, Erez Rechavi, Tali Stauber, Amos J Simon, Atar Lev, Christoph Klein, Daniel Kotlarz, Raz Somech
The original version of this article unfortunately contained mistakes in Author's name, in Table 1 and in result section.
August 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/30091057/p47-phox-chronic-granulomatous-disease-patient-with-incomplete-kawasaki-disease
#14
LETTER
Gouri P Hule, Purva R Kanvinde, Manasi A Kulkarni, Karin van Leeuwen, Martin de Boer, Umair Ahmed Bargir, Prasad D Taur, Mukesh M Desai, Manisha R Madkaikar
No abstract text is available yet for this article.
August 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/30054782/double-trouble-cmc-with-a-mutation-in-both-aire-and-stat1
#15
LETTER
Huda Al Dhanhani, Tariq Al Shehri, Desa Lilic, Mark Buddles, Kai Kisand, Maria E Maccari, Timothy Ronan Leahy
No abstract text is available yet for this article.
August 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/30046960/rag-deficiency-two-genes-many-diseases
#16
REVIEW
Ottavia M Delmonte, Catharina Schuetz, Luigi D Notarangelo
PURPOSE: To review the clinical and laboratory spectrum of RAG gene defects in humans, and discuss the mechanisms underlying phenotypic heterogeneity, the basis of immune dysregulation, and the current and perspective treatment modalities. METHODS: Literature review and analysis of medical records RESULTS: RAG gene defects in humans are associated with a surprisingly broad spectrum of clinical and immunological phenotypes. Correlation between in vitro recombination activity of the mutant RAG proteins and the clinical phenotype has been observed...
August 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/30043271/prevalence-of-granulomas-in-patients-with-primary-immunodeficiency-disorders-united-states-data-from-national-health-care-claims-and-the-us-immunodeficiency-network-registry
#17
Jessica Leung, Kathleen E Sullivan, Ludmila Perelygina, Joseph P Icenogle, Ramsay L Fuleihan, Tatiana M Lanzieri
PURPOSE: Granulomas are a potentially severe condition that can last for several years in persons with primary immunodeficiency disorders (PIDD). We assessed the prevalence of granulomas in patients with PIDD. METHODS: We used the Truven Health MarketScan® 2005-2015 Commercial Claims and Encounters and 2006-2015 Medicaid databases and the US Immunodeficiency Network (USIDNET) PIDD registry (a program of the Immune Deficiency Foundation). Our study population consisted of persons age < 65 years with PIDD, defined as persons with ≥ 2 claims with a diagnostic code for PIDD in MarketScan databases, or patients enrolled in USIDNET...
August 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/30039354/severe-bcg-osis-misdiagnosed-as-multidrug-resistant-tuberculosis-in-an-il-12r%C3%AE-1-deficient-peruvian-girl
#18
Ana Esteve-Sole, Suly P Sánchez-Dávila, Angela Deyà-Martínez, Alexandra F Freeman, Adrian M Zelazny, John P Dekker, Pavel P Khil, Steven M Holland, Antoni Noguera-Julian, Jacinta Bustamante, Jean-Laurent Casanova, Manel Juan, Wilmer Cordova, Laia Alsina
PURPOSE: Mendelian suceptibility to mycobacterial disease (MSMD) is a rare primary immunodeficiency predisposing to severe disease caused by mycobacteria and other intracellular pathogens. Delay in diagnosis can have an impact on the patient's prognosis. METHODS: We evaluated the IFN-γ circuit by studying IFN-γ production after mycobacterial challenge as well as IL-12Rβ1 expression and STAT4 phosphorylation in response to IL-12p70 stimulation in whole blood of a 6-year-old Peruvian girl with disseminated recurrent mycobacterial infection diagnosed as multidrug-resistant tuberculosis...
August 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/30030704/novel-mutations-in-rasgrp1-are-associated-with-immunodeficiency-immune-dysregulation-and-ebv-induced-lymphoma
#19
Ido Somekh, Benjamin Marquardt, Yanshan Liu, Meino Rohlfs, Sebastian Hollizeck, Musa Karakukcu, Ekrem Unal, Ebru Yilmaz, Turkan Patiroglu, Murat Cansever, Shirly Frizinsky, Vicktoria Vishnvenska-Dai, Erez Rechavi, Tali Stauber, Amos J Simon, Atar Lev, Christoph Klein, Daniel Kotlarz, Raz Somech
PURPOSE: RAS guanyl-releasing protein 1 (RASGRP1) deficiency has recently been shown to cause a primary immunodeficiency (PID) characterized by CD4+ T cell lymphopenia and Epstein-Barr virus (EBV)-associated B cell lymphoma. Our report of three novel patients widens the scope of RASGRP1 deficiency by providing new clinical and immunological insights on autoimmunity, immune cell development, and predisposition to lymphoproliferative disease. METHODS: One patient of Turkish origin (P1) and two Palestinian patients (P2, P3) were evaluated for immunodeficiency...
August 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29978272/renal-disease-in-chronic-granulomatous-disease-data-from-the-usidnet-registry
#20
LETTER
Keith A Sacco, Elizabeth Garabedian, Kathleen E Sullivan, Avni Y Joshi
No abstract text is available yet for this article.
July 2018: Journal of Clinical Immunology
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