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Journal of Clinical Immunology

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https://www.readbyqxmd.com/read/29335801/igm-augments-complement-bactericidal-activity-with-serum-from-a-patient-with-a-novel-cd79a-mutation
#1
Jeroen D Langereis, Stefanie S Henriet, Saskia Kuipers, Corry M R Weemaes, Mirjam van der Burg, Marien I de Jonge, Michiel van der Flier
Antibody replacement therapy for patients with antibody deficiencies contains only IgG. As a result, concurrent IgM and IgA deficiency present in a large proportion of antibody deficient patients persists. Especially patients with IgM deficiency remain at risk for recurrent infections of the gastrointestinal and respiratory tract. The lack of IgM in the current IgG replacement therapy is likely to contribute to the persistence of these mucosal infections because this antibody class is especially important for complement activation on the mucosal surface...
January 15, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29307028/exercise-perception-and-behaviors-in-individuals-living-with-primary-immunodeficiency-disease
#2
Kerri L Sowers, Bini A Litwin, Alan C W Lee, Mary Lou A Galantino
BACKGROUND: Routine exercise has been established as an effective way to improve overall health. The value of exercise has been established in many diseases, however, there are no studies investigating the impact of exercise for individuals with primary immunodeficiency disease (PID). The purpose of this study was to investigate exercise perceptions and behaviors in individuals diagnosed with PID. METHODS: An online survey was distributed over a four-week period...
January 6, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29302845/hypersensitive-pneumonitis-an-initial-presentation-of-chronic-granulomatous-disease-in-a-child
#3
LETTER
Hui Liu, Haiming Yang, Huimin Li, Jinrong Liu, Shunying Zhao
Hypersensitive pneumonitis (HP) is a rare initial presentation of chronic granulomatous disease (CGD), especially in children. CGD presenting as HP may result from exposure to inhaled environmental antigens and be induced by excessive production of inflammatory cytokines due to loss of reactive oxygen species production. We herein describe a 2-year-old boy with CGD caused by a mutation in CYBB gene, who initially presented with HP. The patient developed dry cough, progressive dyspnea, and fever after playing in dusty air in a factory that produced plastic materials containing isocyanates...
January 4, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29282570/ralph-josiah-patrick-wedgwood-1924-2017
#4
LETTER
Hans D Ochs, Helen Chapel, Charlotte Cunningham-Rundles, Jane G Schaller
No abstract text is available yet for this article.
December 27, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29255996/a-severe-anaphylactic-reaction-associated-with-igm-class-anti-human-igg-antibodies-in-a-hyper-igm-syndrome-type-2-patient
#5
Yuki Tsujita, Kohsuke Imai, Kenichi Honma, Chikako Kamae, Takahiko Horiuchi, Shigeaki Nonoyama
PURPOSE: A 42-year-old man with hyper-IgM syndrome type 2 caused by activation-induced cytidine deaminase (AID) deficiency developed a severe anaphylactic reaction to intravenous immunoglobulin. The purpose of this study was to clarify the cause of the anaphylactic reaction of the patient. METHODS: We measured IgM-class anti-human IgG and anti-human IgA antibodies in his serum by sandwich enzyme-linked immunosorbent assay (ELISA). RESULTS: The sandwich ELISA assay revealed that serum from the patient, but not the controls, reacted to three different IgG products and purified human IgA...
December 19, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29247371/impact-of-using-different-response-criteria-for-pneumococcal-polysaccharide-vaccination-for-assessment-of-humoral-immune-status
#6
LETTER
Thijs W Hoffman, Diana A van Kessel, Ger T Rijkers
No abstract text is available yet for this article.
December 15, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29226302/international-union-of-immunological-societies-2017-primary-immunodeficiency-diseases-committee-report-on-inborn-errors-of-immunity
#7
Capucine Picard, H Bobby Gaspar, Waleed Al-Herz, Aziz Bousfiha, Jean-Laurent Casanova, Talal Chatila, Yanick J Crow, Charlotte Cunningham-Rundles, Amos Etzioni, Jose Luis Franco, Steven M Holland, Christoph Klein, Tomohiro Morio, Hans D Ochs, Eric Oksenhendler, Jennifer Puck, Mimi L K Tang, Stuart G Tangye, Troy R Torgerson, Kathleen E Sullivan
Beginning in 1970, a committee was constituted under the auspices of the World Health Organization (WHO) to catalog primary immunodeficiencies. Twenty years later, the International Union of Immunological Societies (IUIS) took the remit of this committee. The current report details the categorization and listing of 354 (as of February 2017) inborn errors of immunity. The growth and increasing complexity of the field have been impressive, encompassing an increasing variety of conditions, and the classification described here will serve as a critical reference for immunologists and researchers worldwide...
December 11, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29204803/dock2-deficiency-in-a-patient-with-hyper-igm-phenotype
#8
LETTER
Zahra Alizadeh, Marzieh Mazinani, Leila Shakerian, Mohammad Nabavi, Mohammad R Fazlollahi
No abstract text is available yet for this article.
December 4, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29196934/allogeneic-transplant-for-mycosis-fungoides-in-patient-with-wiskott-aldrich-syndrome
#9
LETTER
Marianna Criscuolo, Luana Fianchi, Patrizia Chiusolo, Sabrina Giammarco, Andrea Bacigalupo, Livio Pagano
No abstract text is available yet for this article.
December 1, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29178053/autosomal-recessive-agammaglobulinemia-due-to-a-homozygous-mutation-in-pik3r1
#10
Paoyun Tang, Julia E M Upton, Michelle A Barton-Forbes, Marina I Salvadori, Meghan P Clynick, April K Price, Sharan L Goobie
The role of class IA phosphoinositide 3 kinases (PI3Ks) in immune function and regulation continues to expand with the identification of greater numbers of genetic variants. This case report is the second reported case of a homozygous premature stop codon within the PIK3R1 gene leading to autosomal recessive agammaglobulinemia. The proband, born to consanguineous parents, presented at 10 months of age with a history of oropharyngeal petechiae and bleeding from the mouth, gums, and tear ducts. Initial investigations revealed thrombocytopenia, neutropenia and the absence of B cells...
November 25, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29177911/mechanisms-of-sustained-neutrophilia-in-patient-whim-09-cured-of-whim-syndrome-by-chromothripsis
#11
Qian Liu, Zhanzhuo Li, Alexander Y Yang, Ji-Liang Gao, Daniel S Velez, Elena J Cho, David H McDermott, Philip M Murphy
WHIM-09 is the first patient described with WHIM syndrome, an autosomal dominant form of neutropenia related to bone marrow retention of neutrophils. Originally diagnosed incorrectly with autoimmune neutropenia, the patient underwent splenectomy at age 9, but the absolute neutrophil count (ANC) did not rise. Subsequently, she was spontaneously cured by chromothripsis (chromosome shattering), which deleted the disease allele CXCR4 R334X , and 163 other genes, on chromosome 2 in a single hematopoietic stem cell (HSC)...
November 24, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29159786/nitazoxanide-may-modify-the-course-of-progressive-multifocal-leukoencephalopathy
#12
LETTER
Timo J Hautala, Ludmila Perelygina, Tytti Vuorinen, Nina M Hautala, Päivi M Hägg, Michaela K Bode, Harri T Rusanen, Marjo H Renko, Virpi Glumoff, Nicholas Schwab, Tilman Schneider-Hohendorf, Jean-Luc Murk, Kathleen E Sullivan, Mikko R J Seppänen
No abstract text is available yet for this article.
November 20, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29138951/chronic-diarrhea-in-common-variable-immunodeficiency-a-case-series-and-review-of-the-literature
#13
Antonio Pecoraro, Liliana Nappi, Ludovica Crescenzi, Francesco P D'Armiento, Arturo Genovese, Giuseppe Spadaro
Common variable immunodeficiency (CVID) is a primary immunodeficiency characterized by reduced immunoglobulin serum levels and absent or impaired antibody production. Clinical manifestations, including infections, inflammatory and autoimmune diseases, and malignancies, also involve various segments of the gastrointestinal tract. Chronic diarrhea is one of the most common gastrointestinal symptoms and may cause a wide spectrum of potentially life-threatening conditions as malabsorption and protein-energy malnutrition...
November 14, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29127627/trichohepatoenteric-syndrome-presenting-with-severe-infection-and-later-onset-diarrhoea
#14
LETTER
Laine M Hosking, Elizabeth G Bannister, Matthew C Cook, Sharon Choo, Smitha Kumble, Theresa S Cole
No abstract text is available yet for this article.
November 10, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29116556/newborn-screening-for-primary-immunodeficiency-diseases-history-current-and-future-practice
#15
Jovanka R King, Lennart Hammarström
The primary objective of population-based newborn screening is the early identification of asymptomatic infants with a range of severe diseases, for which effective treatment is available and where early diagnosis and intervention prevent serious sequelae. Primary immunodeficiency diseases (PID) are a heterogeneous group of inborn errors of immunity. Severe combined immunodeficiency (SCID) is one form of PID which is uniformly fatal without early, definitive therapy, and outcomes are significantly improved if infants are diagnosed and treated within the first few months of life...
November 8, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29103189/modulation-of-the-interleukin-21-pathway-with-interleukin-4-distinguishes-common-variable-immunodeficiency-patients-with-more-non-infectious-clinical-complications
#16
Marylin Desjardins, Marianne Béland, Marieme Dembele, Duncan Lejtenyi, Jean-Phillipe Drolet, Martine Lemire, Christos Tsoukas, Moshe Ben-Shoshan, Francisco J D Noya, Reza Alizadehfar, Christine T McCusker, Bruce D Mazer
PURPOSE: Common variable immunodeficiency (CVID) is characterized by hypogammaglobulinemia and clinical manifestations such as infections, autoimmunity, and malignancy. We sought to determine if responsiveness to interleukin-21 (IL-21), a key cytokine for B cell differentiation, correlates with distinct clinical phenotypes in CVID. METHODS: CVID subjects were recruited through the Canadian Primary Immunodeficiency Evaluative Survey registry. Peripheral blood mononuclear cells were cultured with anti-CD40 ± interferon-gamma, interleukin-4 (IL-4), IL-21, and/or IL-4+IL-21...
November 4, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29098565/immunodeficiency-in-bloom-s-syndrome
#17
Michiel H D Schoenaker, Stefanie S Henriet, Jip Zonderland, Marcel van Deuren, Qiang Pan-Hammarström, Sandra J Posthumus-van Sluijs, Ingrid Pico-Knijnenburg, Corry M R Weemaes, Hanna IJspeert
Bloom's syndrome (BS) is an autosomal recessive disease, caused by mutations in the BLM gene. This gene codes for BLM protein, which is a helicase involved in DNA repair. DNA repair is especially important for the development and maturation of the T and B cells. Since BLM is involved in DNA repair, we aimed to study if BLM deficiency affects T and B cell development and especially somatic hypermutation (SHM) and class switch recombination (CSR) processes. Clinical data of six BS patients was collected, and immunoglobulin serum levels were measured at different time points...
November 2, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29080979/autoimmune-cytopenias-and-associated-conditions-in-cvid-a-report-from-the-usidnet-registry
#18
Elizabeth J Feuille, Niloofar Anooshiravani, Kathleen E Sullivan, Ramsay L Fuleihan, Charlotte Cunningham-Rundles
PURPOSE: Autoimmune cytopenia is frequently a presenting manifestation of common variable immune deficiency (CVID). Studies characterizing the CVID phenotype associated with autoimmune cytopenias have mostly been limited to large referral centers. Here, we report prevalence of autoimmune cytopenias in CVID from the USIDNET Registry and compare the demographics and clinical features of patients with and without this complication. METHODS: Investigators obtained demographic, laboratory, and clinical data on CVID patients within the USIDNET Registry...
October 28, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29226301/the-2017-iuis-phenotypic-classification-for-primary-immunodeficiencies
#19
Aziz Bousfiha, Leïla Jeddane, Capucine Picard, Fatima Ailal, H Bobby Gaspar, Waleed Al-Herz, Talal Chatila, Yanick J Crow, Charlotte Cunningham-Rundles, Amos Etzioni, Jose Luis Franco, Steven M Holland, Christoph Klein, Tomohiro Morio, Hans D Ochs, Eric Oksenhendler, Jennifer Puck, Mimi L K Tang, Stuart G Tangye, Troy R Torgerson, Jean-Laurent Casanova, Kathleen E Sullivan
Since the 1990s, the International Union of Immunological Societies (IUIS) PID expert committee (EC), now called Inborn Errors of Immunity Committee, has published every other year a classification of the inborn errors of immunity. This complete catalog serves as a reference for immunologists and researchers worldwide. However, it was unadapted for clinicians at the bedside. For those, the IUIS PID EC is now publishing a phenotypical classification since 2013, which proved to be more user-friendly. There are now 320 single-gene inborn errors of immunity underlying phenotypes as diverse as infection, malignancy, allergy, auto-immunity, and auto-inflammation...
January 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29086100/clinical-manifestations-and-pathophysiological-mechanisms-of-the-wiskott-aldrich-syndrome
#20
REVIEW
Fabio Candotti
The Wiskott-Aldrich syndrome (WAS) is a rare X-linked disorder originally described by Dr. Alfred Wiskott in 1937 and Dr. Robert Aldrich in 1954 as a familial disease characterized by infections, bleeding tendency, and eczema. Today, it is well recognized that the syndrome has a wide clinical spectrum ranging from mild, isolated thrombocytopenia to full-blown presentation that can be complicated by life-threatening hemorrhages, immunodeficiency, atopy, autoimmunity, and cancer. The pathophysiology of classic and emerging features is being elucidated by clinical studies, but remains incompletely defined, which hinders the application of targeted therapies...
January 2018: Journal of Clinical Immunology
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