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Journal of Clinical Immunology

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https://www.readbyqxmd.com/read/30006913/low-rates-of-poliovirus-antibodies-in-primary-immunodeficiency-patients-on-regular-intravenous-immunoglobulin-treatment
#1
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
#2
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/29978272/renal-disease-in-chronic-granulomatous-disease-data-from-the-usidnet-registry
#3
LETTER
Keith A Sacco, Elizabeth Garabedian, Kathleen E Sullivan, Avni Y Joshi
No abstract text is available yet for this article.
July 5, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29974365/transient-marked-increase-of-%C3%AE-%C3%AE-t-cells-in-whim-syndrome-after-successful-hsct
#4
LETTER
Yuta Kawahara, Yukiko Oh, Tamaki Kato, Kiyotaka Zaha, Akira Morimoto
No abstract text is available yet for this article.
July 4, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29959664/reflex-testing-of-immunoglobulins-in-patients-with-total-serum-ige-2-ku-l
#5
LETTER
Lisa Campisi, Tamara Forster, Mohammed Yousuf Karim
No abstract text is available yet for this article.
June 29, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29956079/the-treatment-of-inflammatory-bowel-disease-in-patients-with-selected-primary-immunodeficiencies
#6
Dror S Shouval, Matthew Kowalik, Scott B Snapper
The gastrointestinal tract is heavily populated with innate and adaptive immune cells that have an active role in preservation of mucosal homeostasis and prevention of inflammation. Inflammatory bowel diseases are thought to result from dysregulated immune function that is influenced by genetic background, environmental triggers, and microbiome changes. While most inflammatory bowel disease patients present in adolescent years or adulthood, in a minority of cases, the disease develops early in life, and in some of these young patients, a monogenic disease causing intestinal inflammation can be identified...
June 29, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29956078/severe-congenital-neutropenia-associated-with-srp54-mutation-in-22q11-2-deletion-syndrome-hematopoietic-stem-cell-transplantation-results-in-correction-of-neutropenia-with-adequate-immune-reconstitution
#7
LETTER
Marcus A Carden, James A Connelly, Elizabeth P Weinzierl, Lisa J Kobrynski, Shanmuganathan Chandrakasan
No abstract text is available yet for this article.
June 29, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29951948/biweekly-hizentra%C3%A2-in-primary-immunodeficiency-a-multicenter-observational-cohort-study-ibis
#8
Alessandra Vultaggio, Chiara Azzari, Silvia Ricci, Baldassarre Martire, Valentina Palladino, Vera Gallo, Antonio Pecoraro, Claudio Pignata, Giuseppe Spadaro, Simona Graziani, Viviana Moschese, Antonino Trizzino, Giorgio Maria Boggia, Andrea Matucci
Immunoglobulin G (IgG) replacement therapy is a standard treatment for patients with primary immunodeficiency diseases (PIDs). Hizentra®, a 20% human subcutaneous IgG (SCIG), is approved for biweekly administration for PIDs. The aim of the multicenter IBIS study was to prospectively investigate the efficacy of biweekly Hizentra® compared with previous IVIG or SCIG treatment regimens in patients with PIDs. The study consisted of a 12-month retrospective period followed by 12-month prospective observational period...
June 28, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29951947/deficiency-of-adenosine-deaminase-2-dada2-updates-on-the-phenotype-genetics-pathogenesis-and-treatment
#9
REVIEW
Isabelle Meyts, Ivona Aksentijevich
Deficiency of ADA2 (DADA2) is the first molecularly described monogenic vasculitis syndrome. DADA2 is caused by biallelic hypomorphic mutations in the ADA2 gene that encodes the adenosine deaminase 2 (ADA2) protein. Over 60 disease-associated mutations have been identified in all domains of ADA2 affecting the catalytic activity, protein dimerization, and secretion. Vasculopathy ranging from livedo reticularis to polyarteritis nodosa (PAN) and life-threatening ischemic and/or hemorrhagic stroke dominate the clinical features of DADA2...
June 27, 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
#10
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/29922940/editorial
#11
EDITORIAL
Jean-Laurent Casanova, Vincent Bonagura
No abstract text is available yet for this article.
June 19, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29911256/the-autoimmune-lymphoproliferative-syndrome-with-defective-fas-or-fas-ligand-functions
#12
REVIEW
Frédéric Rieux-Laucat, Aude Magérus-Chatinet, Bénédicte Neven
The autoimmune lymphoproliferative syndrome (ALPS) is a non-malignant and non-infectious uncontrolled proliferation of lymphocytes accompanied by autoimmune cytopenia. The genetic etiology of the ALPS was described in 1995 by the discovery of the FAS gene mutations. The related apoptosis defect accounts for the accumulation of autoreactive lymphocytes as well as for specific clinical and biological features that distinguish the ALPS-FAS from other monogenic defects of this apoptosis pathway, such as FADD and CASPASE 8 deficiencies...
June 17, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29948576/ikba-s32-mutations-underlie-ectodermal-dysplasia-with-immunodeficiency-and-severe-noninfectious-systemic-inflammation
#13
LETTER
Kunihiko Moriya, Yoji Sasahara, Hidenori Ohnishi, Tomoki Kawai, Hirokazu Kanegane
No abstract text is available yet for this article.
June 14, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29948575/clearing-vaccine-derived-poliovirus-infection-following-hematopoietic-stem-cell-transplantation-a-case-report-and-review-of-literature
#14
Mohammadreza Shaghaghi, Mona Irannejad, Hassan Abolhassani, Shohreh Shahmahmoodi, Amir Ali Hamidieh, Saeed Soleyman-Jahi, Reza Yazdani, Gholamreza Azizi, Asghar Aghamohammadi
The use of oral poliovirus vaccine in a worldwide scale has led to a 99.9% decrease in annual incidence of wild-type poliomyelitis and the eradication of serotype 2 poliovirus. However, the emergence of vaccine-derived polioviruses (VDPVs) is endangering the eradication program. Patients with combined immunodeficiencies are at increased risk of both vaccine-associated poliomyelitis and prolonged asymptomatic infection with immunodeficiency-associated VDPVs (iVDPVs). Herein, we present a severe combined immunodeficiency patient with prolonged and asymptomatic iVDPV infection...
June 14, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29948574/t-nk-il-2-receptor-%C3%AE-chain-mutation-a-challenging-diagnosis-of-atypical-severe-combined-immunodeficiency
#15
Polina Stepensky, Baerbel Keller, Oded Shamriz, Caroline von Spee-Mayer, David Friedmann, Bella Shadur, Susanne Unger, Sebastian Fuchs, Adeeb NaserEddin, Nisreen Rumman, Sara Amro, Vered Molho Pessach, Omar Abuzaitoun, Raz Somech, Orly Elpeleg, Stephan Ehl, Klaus Warnatz
PURPOSE: All reported patients with hypomorphic X-linked severe combined immunodeficiency (X-SCID) due to c.664C>T (p.R222C) mutations in the gene (IL2RG) encoding the common γ chain (γc) have presented with opportunistic infections within the first year of life, despite the presence of nearly normal NK and T cell numbers. Reporting five children of one extended family with hemizygous mutations in IL2RG, we explore potential diagnostic clues and extend our comprehension of the functional impact of this mutation...
June 9, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29882021/lethal-influenza-in-two-related-adults-with-inherited-gata2-deficiency
#16
Ithaisa Sologuren, María Teresa Martínez-Saavedra, Jordi Solé-Violán, Edgar de Borges de Oliveira, Eva Betancor, Inmaculada Casas, Carmen Oleaga-Quintas, Mónica Martínez-Gallo, Shen-Ying Zhang, Jose Pestano, Roger Colobran, Estefanía Herrera-Ramos, Carmen Pérez, Marta López-Rodríguez, José Juan Ruiz-Hernández, Nieves Franco, José María Ferrer, Cristina Bilbao, Miguel Andújar-Sánchez, Mercedes Álvarez Fernández, Michael J Ciancanelli, Felipe Rodríguez de Castro, Jean-Laurent Casanova, Jacinta Bustamante, Carlos Rodríguez-Gallego
The pathogenesis of life-threatening influenza A virus (IAV) disease remains elusive, as infection is benign in most individuals. We studied two relatives who died from influenza. We Sanger sequenced GATA2 and evaluated the mutation by gene transfer, measured serum cytokine levels, and analyzed circulating T- and B-cells. Both patients (father and son, P1 and P2) died in 2011 of H1N1pdm IAV infection at the ages of 54 and 31 years, respectively. They had not suffered from severe or moderately severe infections in the last 17 (P1) and 15 years (P2)...
June 7, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29872941/the-international-alliance-of-primary-immune-deficiency-societies
#17
EDITORIAL
Andrew R Gennery, Roshini S Abraham, Troy R Torgerson, Amos Etzioni, Andrew J Cant, Isabelle Meyts, James Chipeta, Ahmed Aziz Bousfiha, Tandakha D Dieye, Antonio Condino-Neto, Francisco Espinosa, Liliana Besrodnik, Yu-Lung Lau, Surjit Singh, Godfrey C F Chan, Jordan S Orange
No abstract text is available yet for this article.
June 5, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29781065/correction-to-use-of-genetic-testing-for-primary-immunodeficiency-patients
#18
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
#19
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
#20
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
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