journal
MENU ▼
Read by QxMD icon Read
search

Journal of Clinical Immunology

journal
https://www.readbyqxmd.com/read/29781065/correction-to-use-of-genetic-testing-for-primary-immunodeficiency-patients
#1
Jennifer R Heimall, David Hagin, Joud Hajjar, Sarah E Henrickson, Hillary S Hernandez-Trujillo, Yuval Itan, Lisa Kobrynski, Kenneth Paris, Troy R Torgerson, James W Verbsky, Richard L Wasserman, Elena W Y Hsieh, Jack J Bleesing, Janet S Chou, Monica G Lawrence, Rebecca A Marsh, Sergio D Rosenzweig, Jordan S Orange, Roshini S Abraham
The original version of this article unfortunately contained mistakes in some of the author names and affiliations. The correct list of author names and affiliations is below, with the corrections in bold.
May 21, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29777412/autosomal-dominant-ifn-%C3%AE-r1-deficiency-presenting-with-both-atypical-mycobacteriosis-and-tuberculosis-in-a-bcg-vaccinated-south-african-patient
#2
LETTER
Brigitte Glanzmann, Marlo Möller, Marcela Moncada-Velez, Jonny Peter, Michael Urban, Paul D van Helden, Eileen G Hoal, Nikola de Villiers, Richard H Glashoff, Rina Nortje, Jacinta Bustamante, Laurent Abel, Jean-Laurent Casanova, Stephanie Boisson-Dupuis, Monika Esser, Craig J Kinnear
No abstract text is available yet for this article.
May 18, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29770900/insights-into-mutation-effect-in-three-poikiloderma-with-neutropenia-patients-by-transcript-analysis-and-disease-evolution-of-reported-patients-with-the-same-pathogenic-variants
#3
Elisa A Colombo, Nursel H Elcioglu, Claudio Graziano, Pamela Farinelli, Elisabetta Di Fede, Iria Neri, Elena Facchini, Mariangela Greco, Cristina Gervasini, Lidia Larizza
PURPOSE: Poikiloderma with neutropenia (PN) is a genodermatosis currently described in 77 patients, all presenting with early-onset poikiloderma, neutropenia, and several additional signs. Biallelic loss-of-function mutations in USB1 gene are detected in all molecularly tested patients but genotype-phenotype correlation remains elusive. Cancer predisposition is recognized among PN features and pathogenic variants found in patients who developed early in life myelodysplasia (n = 12), acute myeloid leukemia (n = 2), and squamous cell carcinoma (n = 2) should be kept into account in management and follow-up of novel patients...
May 16, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29748908/first-identification-of-an-inherited-tpsab1-quintuplication-in-a-patient-with-clonal-mast-cell-disease
#4
LETTER
Vito Sabato, Jack Chovanec, Margaretha Faber, Joshua D Milner, Didier Ebo, Jonathan J Lyons
No abstract text is available yet for this article.
May 11, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29744787/ada-deficiency-evaluation-of-the-clinical-and-laboratory-features-and-the-outcome
#5
Deniz Cagdas, Pınar Gur Cetinkaya, Betül Karaatmaca, Saliha Esenboga, Cagman Tan, Togay Yılmaz, Ersin Gümüş, Safa Barış, Barış Kuşkonmaz, Tuba Turul Ozgur, Pawan Bali, Ines Santisteban, Diclehan Orhan, Aysel Yüce, Duygu Cetinkaya, Kaan Boztug, Michael Hershfield, Ozden Sanal, İlhan Tezcan
INTRODUCTION: Adenosine deaminase (ADA) deficiency is an autosomal recessive primary immunodeficiency. It results in the intracellular accumulation of toxic metabolites which have effects particularly on lymphocytes and the brain. The aim of this study was to evaluate the outcome of 13 ADA-deficient patients. We planned to evaluate their clinical and laboratory findings before and after enzyme replacement therapy (ERT), allogeneic hematopoietic stem cell transplantation (aHSCT), and hematopoietic stem cell gene therapy (HSCGT)...
May 9, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29730845/disseminated-cutaneous-warts-in-x-linked-hyper-igm-syndrome
#6
LETTER
Hsi-En Ho, Minji Byun, Charlotte Cunningham-Rundles
No abstract text is available yet for this article.
May 5, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29707745/antinuclear-antibody-positive-juvenile-idiopathic-arthritis-despite-irak-4-deficiency
#7
LETTER
Boris Hügle, Norman Händel, Klaus Schwarz, Michael Borte, Volker Schuster
No abstract text is available yet for this article.
April 29, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29713933/correction-to-assessment-of-local-adverse-reactions-to-subcutaneous-immunoglobulin-scig-in-clinical-trials
#8
Mark Ballow, Richard L Wasserman, Stephen Jolles, Helen Chapel, Mel Berger, Siraj A Misbah
The article Assessment of Local Adverse Reactions to Subcutaneous Immunoglobulin (SCIG) in Clinical Trials, written by Mark Ballow, Richard L. Wasserman, Stephen Jolles, Helen Chapel, Mel Berger, Siraj A. Misbah, was originally published Online First without open access.
April 27, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29744786/correction-to-raised-serum-il-8-levels-are-associated-with-excessive-fatigue-in-female-carriers-of-x-linked-chronic-granulomatous-disease-in-the-uk
#9
Alexandra C Battersby, Alexander J Martin, Jessica Tarn, W F Ng, Catherine M Cale, David Goldblatt, Andrew R Gennery
The original version of the article, "Raised Serum IL-8 Levels Are Associated with Excessive Fatigue in Female Carriers of X-Linked Chronic Granulomatous Disease in the UK" incorrectly listed the name of the fourth author as Fai W. Ng. The correct spelling of the author's name is WF Ng.
April 23, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29728794/correction-to-circulating-t-cells-of-patients-with-nijmegen-breakage-syndrome-show-signs-of-senescence
#10
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
The original version of the article, "Circulating T Cells of Patients with Nijmegen Breakage Syndrome Show Signs of Senescence" incorrectly listed the affiliation of the fourth author, Iwona Solarska. The correct affiliation is "Molecular Biology Laboratory, Institute of Hematology and Transfusion Medicine.
April 23, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29687211/dual-threat-of-epstein-barr-virus-an-autopsy-case-report-of-hiv-positive-plasmablastic-lymphoma-complicating-ebv-associated-hemophagocytic-lymphohistiocytosis
#11
Yusuke Koizumi, Ken-Ichi Imadome, Yasunori Ota, Hitoshi Minamiguchi, Yoshinori Kodama, Dai Watanabe, Hiroshige Mikamo, Tomoko Uehira, Seiji Okada, Takuma Shirasaka
Epstein-Barr virus (EBV) reactivation causes serious diseases in immunocompromised hosts, such as acquired immunodeficiency syndrome (AIDS). We report on a case of plasmablastic lymphoma (PBL) with hemophagocytic lymphohistiocytosis (HLH).A-53-year-old Japanese man was diagnosed with PBL and AIDS. In addition to combined antiretroviral therapy, HyperCVAD (cyclophosphamide, doxorubicin, vincristine, prednisone)/high-dose methotrexate + cytarabine was initiated immediately. Partial remission was attained with chemotherapy...
April 23, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29682684/2018-cis-annual-meeting-immune-deficiency-dysregulation-north-american-conference
#12
(no author information available yet)
No abstract text is available yet for this article.
April 23, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29675737/use-of-genetic-testing-for-primary-immunodeficiency-patients
#13
Jennifer R Heimall, David Hagin, Joud Hajjar, Sarah E Henrickson, Hillary S Hernandez-Trujillo, Yuval Tan, Lisa Kobrynski, Kenneth Paris, Troy R Torgerson, James W Verbsky, Richard L Wasserman, Elena W Y Hsieh, Jack J Blessing, Janet S Chou, Monica G Lawrence, Rebecca A Marsh, Sergio D Rosenzweig, Jordan S Orange, Roshini S Abraham
Genetic testing plays a critical role in diagnosis for many primary immunodeficiency diseases. The goals of this report are to outline some of the challenges that clinical immunologists face routinely in the use of genetic testing for patient care. In addition, we provide a review of the types of genetic testing used in the diagnosis of PID, including their strengths and limitations. We describe the strengths and limitations of different genetic testing approaches for specific clinical contexts that raise concern for specific PID disorders in light of the challenges reported by the clinical immunologist members of the CIS in a recent membership survey...
April 19, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29671115/utility-of-dna-rna-protein-and-functional-approaches-to-solve-cryptic-immunodeficiencies
#14
Margot A Cousin, Matthew J Smith, Ashley N Sigafoos, Jay J Jin, Marine I Murphree, Nicole J Boczek, Patrick R Blackburn, Gavin R Oliver, Ross A Aleff, Karl J Clark, Eric D Wieben, Avni Y Joshi, Pavel N Pichurin, Roshini S Abraham, Eric W Klee
PURPOSE: We report a female infant identified by newborn screening for severe combined immunodeficiencies (NBS SCID) with T cell lymphopenia (TCL). The patient had persistently elevated alpha-fetoprotein (AFP) with IgA deficiency, and elevated IgM. Gene sequencing for a SCID panel was uninformative. We sought to determine the cause of the immunodeficiency in this infant. METHODS: We performed whole-exome sequencing (WES) on the patient and parents to identify a genetic diagnosis...
April 18, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29671114/droplet-digital-pcr-based-chimerism-analysis-for-primary-immunodeficiency-diseases
#15
Tsubasa Okano, Yuki Tsujita, Hirokazu Kanegane, Kanako Mitsui-Sekinaka, Kay Tanita, Satoshi Miyamoto, Tzu-Wen Yeh, Motoi Yamashita, Naomi Terada, Yumi Ogura, Masatoshi Takagi, Kohsuke Imai, Shigeaki Nonoyama, Tomohiro Morio
OBJECTIVE: In the current study, we aimed to accurately evaluate donor/recipient or male/female chimerism in samples from patients who underwent hematopoietic stem cell transplantation (HSCT). METHODS: We designed the droplet digital polymerase chain reaction (ddPCR) for SRY and RPP30 to detect the male/female chimerism. We also developed mutation-specific ddPCR for four primary immunodeficiency diseases. RESULTS: The accuracy of the male/female chimerism analysis using ddPCR was confirmed by comparing the results with those of conventional methods (fluorescence in situ hybridization and short tandem repeat-PCR) and evaluating dilution assays...
April 18, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29663155/francisella-philomiragia-think-of-chronic-granulomatous-disease
#16
LETTER
Angel Robles-Marhuenda, Marco Vaca, Pilar Romero, Antonio Ferreira, Eduardo López-Granados, Francisco Arnalich
No abstract text is available yet for this article.
April 16, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29656336/combined-immunodeficiency-with-ring-chromosome-21
#17
LETTER
Melissa Norman, Brynn Wainstein, Antoinette Anazodo, Anne Turner, Cindy Ma, Kathryn Payne, Stuart G Tangye, Paul Gray
No abstract text is available yet for this article.
April 15, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29654497/from-ign%C3%A3-c-semmelweis-to-primary-immunodeficiencies-a-bicentenary-commemoration
#18
LETTER
László Maródi
No abstract text is available yet for this article.
April 13, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29629482/immunologist-s-perspectives-on-assessment-and-management-of-lung-disease-in-cvid-a-survey-of-the-membership-of-the-clinical-immunology-society-and-the-european-society-for-immunodeficiencies
#19
LETTER
Javeed Akhter, Cheryl A Lefaiver, Christopher Scalchunes, Michael DiGirolamo, Klaus Warnatz
No abstract text is available yet for this article.
April 8, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29623547/first-analysis-of-serping1-gene-in-patients-with-hereditary-angioedema-in-colombia-reveals-two-genotypic-variants-in-a-highly-symptomatic-individual
#20
Jairo A Rodríguez, Carlos F Narváez
Hereditary angioedema (HAE) is a heterogeneous genetic disease caused by a deficit in C1 inhibitor (C1-INH) and clinically characterized by sudden events of edema, swelling, and pruritus. Here, we describe the first SERPING1 genotyping in 22 subjects from 4 non-related families, all from southern Colombia. The previously reported heterozygous gene mutations, c.1081C>T (p.Gln361*), c.1396C>G (p.Arg466Gly), c.1029+84G>A, or c.106_107del (p.Ser36Phefs*21), were found in 12 patients. Of note, a single patient clinically characterized as severe HAE type 2 expressed mutations in exon 8 and intron 6, whereas all the others have type 1 HAE and expressed one pathogenic variant...
April 5, 2018: Journal of Clinical Immunology
journal
journal
28117
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"