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Journal of Clinical Immunology

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https://www.readbyqxmd.com/read/29159786/nitazoxanide-may-modify-the-course-of-progressive-multifocal-leukoencephalopathy
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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/29086100/clinical-manifestations-and-pathophysiological-mechanisms-of-the-wiskott-aldrich-syndrome
#7
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...
October 30, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29080979/autoimmune-cytopenias-and-associated-conditions-in-cvid-a-report-from-the-usidnet-registry
#8
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/28963631/2017-lasid-meeting-abstracts
#9
(no author information available yet)
No abstract text is available yet for this article.
September 30, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29058101/dock8-deficiency-presenting-as-an-ipex-like-disorder
#10
Fayhan J Alroqi, Louis-Marie Charbonnier, Sevgi Keles, Fatima Ghandour, Pierre Mouawad, Rami Sabouneh, Reem Mohammed, Abduarahman Almutairi, Janet Chou, Michel J Massaad, Raif S Geha, Zeina Baz, Talal A Chatila
PURPOSE: The dedicator of cytokinesis 8 (DOCK8) deficiency is an autosomal recessive-combined immunodeficiency whose clinical spectra include recurrent infections, autoimmunity, malignancies, elevated serum IgE, eczema, and food allergies. Here, we report on patients with loss of function DOCK8 mutations with profound immune dysregulation suggestive of an immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX)-like disorder. METHODS: Immunophenotyping of lymphocyte subpopulations and analysis of DOCK8 protein expression were evaluated by flow cytometry...
November 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28993958/functional-evaluation-of-an-ikbkg-variant-suspected-to-cause-immunodeficiency-without-ectodermal-dysplasia
#11
Glynis Frans, Jutte van der Werff Ten Bosch, Leen Moens, Rik Gijsbers, Majid Changi-Ashtiani, Hassan Rokni-Zadeh, Mohammad Shahrooei, Greet Wuyts, Isabelle Meyts, Xavier Bossuyt
Hypomorphic IKBKG mutations in males are typically associated with anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID). Some mutations cause immunodeficiency without EDA (NEMO-ID). The immunological profile associated with these NEMO-ID variants is not fully documented. We present a 2-year-old patient with suspected immunodeficiency in which a hemizygous p.Glu57Lys IKBKG variant was identified. At the age of 1 year, he had an episode of otitis media that evolved into a bilateral mastoiditis (Pseudomonas spp)...
November 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28993957/hematopoietic-stem-cell-transplantation-in-ada2-deficiency-early-restoration-of-ada2-enzyme-activity-and-disease-relapse-upon-drop-of-donor-chimerism
#12
LETTER
Giorgia Bucciol, Selket Delafontaine, Heidi Segers, Xavier Bossuyt, Michael S Hershfield, Leen Moens, Isabelle Meyts
No abstract text is available yet for this article.
November 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28988408/response-to-the-letter-to-the-editor-regarding-kinetics-of-radiological-response-of-thoracic-invasive-fungal-disease-in-chronic-granulomatous-disease
#13
LETTER
Maria P Bondioni, Vassilios Lougaris, Alessandro Plebani
No abstract text is available yet for this article.
November 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28956255/multiple-presentations-of-lrba-deficiency-a-single-center-experience
#14
Sevgi Kostel Bal, Sule Haskologlu, Nina K Serwas, Candan Islamoglu, Caner Aytekin, Tanil Kendirli, Zarife Kuloglu, Gulsan Yavuz, Buket Dalgic, Zeynep Siklar, Aydan Kansu, Arzu Ensari, Kaan Boztug, Figen Dogu, Aydan Ikinciogullari
INTRODUCTION: LPS-responsive beige-like anchor protein (LRBA) deficiency is a primary immunodeficiency categorized as common variable immunodeficiency associated with autoimmune manifestations and inflammatory bowel diseases; however, the clinical spectrum has been extended. Here, we present our cohort of Turkish LRBA-deficient patients from a single center, demonstrating a diversity of clinical manifestations. METHOD: Seven affected individuals from five families were assessed retrospectively in this study...
November 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28942469/early-versus-late-diagnosis-of-complement-factor-i-deficiency-clinical-consequences-illustrated-in-two-families-with-novel-homozygous-cfi-mutations
#15
Clara Franco-Jarava, Elena Álvarez de la Campa, Xavier Solanich, Francisco Morandeira-Rego, Virgínia Mas-Bosch, Marina García-Prat, Xavier de la Cruz, Andrea Martín-Nalda, Pere Soler-Palacín, Manuel Hernández-González, Roger Colobran
The complement system is an important effector arm of innate immunity and plays a crucial role in the defense against common pathogens. But effective defense and maintenance of homeostasis requires a careful balance between complement activation and regulation. Factor I (FI) is one of the most important regulators of the complement system. Complete FI deficiency is a rare autosomal recessive disorder typically resulting in severe, recurrent infection by encapsulated bacteria. In the present study, we describe two patients from unrelated families with complete FI deficiency diagnosed at very different ages: Patient 1 is a 60-year-old man who had experienced several severe infections (pneumonia, meningitis, sepsis) since childhood, one of which caused significant and permanent neurologic sequelae...
November 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28936778/preferential-reduction-of-circulating-innate-lymphoid-cells-type-2-in-patients-with-common-variable-immunodeficiency-with-secondary-complications-is-part-of-a-broader-immune-dysregulation
#16
David Friedmann, Baerbel Keller, Ina Harder, Jonas Schupp, Yakup Tanriver, Susanne Unger, Klaus Warnatz
PURPOSE: Over a third of patients with common variable immunodeficiency (CVID) suffer from secondary complications like inflammatory organ disease, autoimmune manifestations, or lymphoproliferation contributing to increased morbidity and mortality in affected patients. Innate lymphoid cells (ILCs) have emerging roles in setting the milieu for physiological, but also pathological, immune responses and inflammation. We therefore sought to correlate the recently identified disturbed homeostasis of ILCs with alterations of the adaptive immune system in complex CVID patients (CVIDc)...
November 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28936583/effective-immunological-guidance-of-genetic-analyses-including-exome-sequencing-in-patients-evaluated-for-hemophagocytic-lymphohistiocytosis
#17
Sandra Ammann, Kai Lehmberg, Udo Zur Stadt, Christian Klemann, Sebastian F N Bode, Carsten Speckmann, Gritta Janka, Katharina Wustrau, Mirzokhid Rakhmanov, Ilka Fuchs, Hans C Hennies, Stephan Ehl
We report our experience in using flow cytometry-based immunological screening prospectively as a decision tool for the use of genetic studies in the diagnostic approach to patients with hemophagocytic lymphohistiocytosis (HLH). We restricted genetic analysis largely to patients with abnormal immunological screening, but included whole exome sequencing (WES) for those with normal findings upon Sanger sequencing. Among 290 children with suspected HLH analyzed between 2010 and 2014 (including 17 affected, but asymptomatic siblings), 87/162 patients with "full" HLH and 79/111 patients with "incomplete/atypical" HLH had normal immunological screening results...
November 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28932937/foxn1-deficiency-from-the-discovery-to-novel-therapeutic-approaches
#18
REVIEW
Vera Gallo, Emilia Cirillo, Giuliana Giardino, Claudio Pignata
Since the discovery of FOXN1 deficiency, the human counterpart of the nude mouse, a growing body of evidence investigating the role of FOXN1 in thymus and skin, has been published. FOXN1 has emerged as fundamental for thymus development, function, and homeostasis, representing the master regulator of thymic epithelial and T cell development. In the skin, it also plays a pivotal role in keratinocytes and hair follicle cell differentiation, although the underlying molecular mechanisms still remain to be fully elucidated...
November 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28879453/fecal-calprotectin-rise-in-chronic-granulomatous-disease-associated-colitis
#19
LETTER
Yumiko Nakazawa, Toshinao Kawai, Katsuhiro Arai, Eiichiro Tamura, Toru Uchiyama, Masafumi Onodera
No abstract text is available yet for this article.
November 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28875256/response-to-the-letter-to-the-editor-regarding-assessment-of-local-adverse-reactions-to-subcutaneous-immunoglobulin-scig-in-clinical-trials
#20
LETTER
Daniel Suez, Mark Stein, Sudhir Gupta, Iftikhar Hussain, Isaac Melamed, Kenneth Paris, Amy Darter, Christelle Bourgeois, Sandor Fritsch, Heinz Leibl, Barbara McCoy, David Gelmont, Leman Yel
No abstract text is available yet for this article.
November 2017: Journal of Clinical Immunology
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