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Hyper IgE syndrome

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https://www.readbyqxmd.com/read/28938255/scabies-periorbital-cellulitis-and-recurrent-skin-abscesses-due-to-panton-valentine-leukocidin-positive-s-aureus-mimic-hyper-ige-syndrome-in-an-infant
#1
Renate Krüger, Leif G Hanitsch, Rasmus Leistner, Sylke Schneider-Burrus, Pia-Alice Hoppe, Sylvia Steinberg, Fabian Hauck, Horst von Bernuth
We describe the clinical course of a two-month-old infant that was evaluated for autosomal dominant Hyper IgE Syndrome based on eczema, periorbital cellulitis, skin abscesses, increased total IgE levels and blood eosinophilia. However, scabies and nasal colonization by Panton-Valentine Leucocidin positive S. aureus were eventually diagnosed. After specific treatment the child was asymptomatic.
September 20, 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28902078/squamous-cell-carcinoma-with-hyper-ige-syndrome-a-case-report
#2
Ayse S Sasihuseyinoglu, Mustafa Yilmaz, Derya U Altintaş, Dilek Dogruel, Mahir Serbes, Aysun H Uğuz, Mete Kiroğlu
BACKGROUND: Hyper-immunoglobulin E syndrome (HIES) is a rare primary immunodeficiency disease characterized by recurrent infections and elevated levels of serum immunoglobulin E, usually over 2000 IU/mL. Recurrent and chronic infection of the epidermis and squamous epithelium may also be a cause of squamous cell carcinoma (SCC). SCC is rare with HIES. CASE REPORT: A 17-year-old male patient who was diagnosed as HIES was admitted with purulent right ear discharge...
September 8, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28884991/acute-cardiac-disease-in-a-patient-with-hyper-ige-syndrome
#3
A Castilano, H Watti, A Abdulbaki, K Modi, J A Bocchini, S L Bahna
We describe the case of a 24-year-old male with hyper-IgE syndrome (HIES) which was diagnosed at 4 years of age and died from a very rare cardiac complication. He had typical clinical and laboratory manifestations of HIES, including total serum IgE as high as > 100,000 IU/mL. Stem cell transplantation was not available. During the 20-year follow-up, he suffered numerous various infections of the skin and deep organs, partial lung resection, as well as multiple bone fractures. At age 24, he developed acute decompensated heart failure associated with elevated serum troponin I and brain natriuretic protein...
September 2017: European Annals of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/28803389/gastrointestinal-manifestations-of-stat3-deficient-hyper-ige-syndrome
#4
Manish Arora, Preet Bagi, Anna Strongin, Jennifer Heimall, Xiongce Zhao, Monica G Lawrence, Apurva Trivedi, Carolyn Henderson, Amy Hsu, Martha Quezado, David E Kleiner, Aradhana M Venkatesan, Steven M Holland, Alexandra F Freeman, Theo Heller
OBJECTIVE: STAT 3 deficiency (autosomal dominant hyper immunoglobulin E syndrome (AD-HIES)) is a primary immunodeficiency disorder with multi-organ involvement caused by dominant negative signal transducer and activator of transcription gene 3 (STAT3) mutations. We sought to describe the gastrointestinal (GI) manifestations of this disease. METHODS: Seventy subjects aged five to 60 years with a molecular diagnosis of AD-HIES were evaluated at the National Institutes of Health (NIH)...
August 13, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28794229/dock8-drives-src-dependent-nk-cell-effector-function
#5
Conor J Kearney, Stephin J Vervoort, Kelly M Ramsbottom, Andrew J Freeman, Jessica Michie, Jane Peake, Jean-Laurent Casanova, Capucine Picard, Stuart G Tangye, Cindy S Ma, Ricky W Johnstone, Katrina L Randall, Jane Oliaro
Mutations in the dedicator of cytokinesis 8 (DOCK8) gene cause an autosomal recessive form of hyper-IgE syndrome, characterized by chronic immunodeficiency with persistent microbial infection and increased incidence of malignancy. These manifestations suggest a defect in cytotoxic lymphocyte function and immune surveillance. However, how DOCK8 regulates NK cell-driven immune responses remains unclear. In this article, we demonstrate that DOCK8 regulates NK cell cytotoxicity and cytokine production in response to target cell engagement or receptor ligation...
August 9, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28747427/a-biallelic-mutation-in-il6st-encoding-the-gp130-co-receptor-causes-immunodeficiency-and-craniosynostosis
#6
Tobias Schwerd, Stephen R F Twigg, Dominik Aschenbrenner, Santiago Manrique, Kerry A Miller, Indira B Taylor, Melania Capitani, Simon J McGowan, Elizabeth Sweeney, Astrid Weber, Liye Chen, Paul Bowness, Andrew Riordan, Andrew Cant, Alexandra F Freeman, Joshua D Milner, Steven M Holland, Natalie Frede, Miryam Müller, Dirk Schmidt-Arras, Bodo Grimbacher, Steven A Wall, E Yvonne Jones, Andrew O M Wilkie, Holm H Uhlig
Multiple cytokines, including interleukin 6 (IL-6), IL-11, IL-27, oncostatin M (OSM), and leukemia inhibitory factor (LIF), signal via the common GP130 cytokine receptor subunit. In this study, we describe a patient with a homozygous mutation of IL6ST (encoding GP130 p.N404Y) who presented with recurrent infections, eczema, bronchiectasis, high IgE, eosinophilia, defective B cell memory, and an impaired acute-phase response, as well as skeletal abnormalities including craniosynostosis. The p.N404Y missense substitution is associated with loss of IL-6, IL-11, IL-27, and OSM signaling but a largely intact LIF response...
September 4, 2017: Journal of Experimental Medicine
https://www.readbyqxmd.com/read/28720031/knee-pain-in-a-boy-with-hyper-ige-type-1-syndrome-job-variant
#7
Thomas G Knoedler, Gregory T Minutillo, Russell W Steele
No abstract text is available yet for this article.
August 2017: Clinical Pediatrics
https://www.readbyqxmd.com/read/28710038/steroid-sulfatase-and-filaggrin-mutations-in-a-boy-with-severe-ichthyosis-elevated-serum-ige-level-and-moyamoya-syndrome
#8
Qian Zhang, Nuo Si, Yaping Liu, Dong Zhang, Rong Wang, Yan Zhang, Shuo Wang, Xingju Liu, Xiaofeng Deng, Yonggang Ma, Peicong Ge, Jizong Zhao, Xue Zhang
X-linked ichthyosis (XLI) is a relatively common, recessive condition caused by mutations in the steroid sulfatase (STS) gene. Common loss-of-function mutations in the filaggrin gene (FLG) cause ichthyosis vulgaris and predispose individuals to atopic eczema. We report a case of a 6-year-old boy who presented with unusually severe XLI, an increased serum immunoglobulin E level (2120IU/ml) and moyamoya angiopathy. Whole-exome sequencing identified a gross deletion encompassing the STS in Xp22.31 and the p.K4022X FLG mutation...
July 11, 2017: Gene
https://www.readbyqxmd.com/read/28702026/lessons-from-genetic-studies-of-primary-immunodeficiencies-in-a-highly-consanguineous-population
#9
REVIEW
Mohamed-Ridha Barbouche, Najla Mekki, Meriem Ben-Ali, Imen Ben-Mustapha
During the last decades, the study of primary immunodeficiencies (PIDs) has contributed tremendously to unravel novel pathways involved in a variety of immune responses. Many of these PIDs have an autosomal recessive (AR) mode of inheritance. Thus, the investigation of the molecular basis of PIDs is particularly relevant in consanguineous populations from Middle East and North Africa (MENA). Although significant efforts have been made in recent years to develop genetic testing across the MENA region, few comprehensive studies reporting molecular basis of PIDs in these settings are available...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/28690727/-clinical-and-immunological-profile-of-15-moroccan-patients-with-hyper-igm-syndrome
#10
Hind Ouair, Ibtihal Benhsaien, Leila Jeddane, Jalila El Bakkouri, Naima Elhafidi, Noureddine Rada, Jilali Najib, Fatima Ailal, Hanane Salih Alj, Ahmed Aziz Bousfiha
Hyper IgM syndrome is a well known genetic (primary) immunodeficiency disorder which was first described in 1961. It is caused by B lymphocyte deficiency characterized by normal or elevated serum IgM levels and low or zero levels of IgG, IgA, IgE resulting from isotype-switching deficiency. Clinical manifestations are dominated by recurrent infections, especially involving the digestive tube of the ENT sphere and the lungs. This syndrome is caused by B-cell immunoglobulin class switch deficiency and decreased capacity to induce proliferation of T lymphocytes...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28643229/progressive-multifocal-leukoencephalopathy-in-a-patient-with-lymphoma-and-presumptive-hyper-ige-syndrome
#11
Rahsan Gocmen, Nazire Pinar Acar, Deniz Cagdas, Asli Kurne
We, herein, report a 23-year-old male with a rare inherited immunodeficiency disease, hyperimmunoglobulin IgE syndrome (HIES), who developed progressive multifocal leukoencephalopathy (PML) and lymphoma simultaneously. Primary immunodeficiency of the patient has remained undiagnosed until adulthood. PML is a severe demyelinating disease of the central nervous system caused by John Cunningham virus. HIES is a rare, inherited immunodeficiency characterized by high serum levels of IgE, recurrent staphylococcal infection, eczema, and hypereosinophilia...
June 22, 2017: Journal of Neurovirology
https://www.readbyqxmd.com/read/28631311/the-il-10-stat3-axis-contributions-to-immune-tolerance-by-thymus-and-peripherally-derived-regulatory-t-cells
#12
REVIEW
Klaus G Schmetterer, Winfried F Pickl
The signal transducer and activator of transcription (STAT) proteins are important mediators for the integration of extrinsic signals provided by cytokines and hormones and thereby adapt cellular processes to their surroundings. In the past decade, the involvement of STAT3 in the regulation of T-cell responses has become a topic of increasing interest. STAT3 is activated in response to multiple cytokines, many of which have been shown to influence T-cell responses. Interestingly, many of these factors have been described with apparent opposing roles, such as the highly pro-inflammatory potency of IL-6 and the anti-inflammatory properties of IL-10, thus raising the possibility that STAT3 signaling may fulfill diverse roles in CD4(+) T-cells...
June 20, 2017: European Journal of Immunology
https://www.readbyqxmd.com/read/28607797/hyper-ige-syndrome-and-renal-cell-carcinoma
#13
Neel H Patel, Mark Ferretti, John L Phillips
Hyper IgE Syndrome (HIES) is an immunodeficiency disorder characterized by increased serum levels of IgE, eczema, and recurrent cutaneous and pulmonary infections. In this report, we present, to our knowledge, the first documented case of renal cell carcinoma (RCC) found in a patient with HIES. The patient received infectious disease clearance prior to obtaining a partial nephrectomy which revealed clear cell histology. Both HIES and RCC have an immunological basis for their pathophysiology and may involve common pathways...
2017: Case Reports in Urology
https://www.readbyqxmd.com/read/28597144/multicolor-flow-cytometry-for-the-diagnosis-of-primary-immunodeficiency-diseases
#14
Takehiro Takashima, Miko Okamura, Tzu-Wen Yeh, Tsubasa Okano, Motoi Yamashita, Keisuke Tanaka, Akihiro Hoshino, Noriko Mitsuiki, Masatoshi Takagi, Eiichi Ishii, Kohsuke Imai, Hirokazu Kanegane, Tomohiro Morio
PURPOSE: Primary immunodeficiency diseases (PIDDs) are rare inherited diseases that impair the human immune system. We established a multicolor flow cytometric assay to comprehensively evaluate the immune status and immunological characteristics of patients with PIDDs. METHODS: Fifty-nine normal controls and 75 patients with PIDDs, including X-linked severe combined immunodeficiency (X-SCID), X-linked agammaglobulinemia (XLA), X-linked hyper IgM syndrome (X-HIGM), ataxia telangiectasia (AT), Wiskott-Aldrich syndrome (WAS), hyper IgE syndrome (HIES), and chronic mucocutaneous candidiasis disease (CMCD), were enrolled in this study...
June 8, 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28587312/molecular-typing-of-staphylococcus-aureus-isolated-from-patients-with-autosomal-dominant-hyper-ige-syndrome
#15
Inka Sastalla, Kelli W Williams, Erik D Anderson, Ian A Myles, Jensen D Reckhow, Marlene Espinoza-Moraga, Alexandra F Freeman, Sandip K Datta
Autosomal dominant hyper IgE syndrome (AD-HIES) is a primary immunodeficiency caused by a loss-of-function mutation in the Signal Transducer and Activator of Transcription 3 (STAT3). This immune disorder is clinically characterized by increased susceptibility to cutaneous and sinopulmonary infections, in particular with Candida and Staphylococcus aureus. It has recently been recognized that the skin microbiome of patients with AD-HIES is altered with an overrepresentation of certain Gram-negative bacteria and Gram-positive staphylococci...
June 6, 2017: Pathogens
https://www.readbyqxmd.com/read/28562253/life-threatening-pneumopathy-and-u-urealyticum-in-a-stat3-deficient-hyper-ige-syndrome-patient
#16
Guillaume Deverrière, Ludovic Lemée, Steven Grangé, Sophie Boyer, Capucine Picard, Alain Fischer, Christophe Marguet
A deficiency in signal transducer and activator of transcription 3 (STAT3) is responsible for autosomal dominant hyperimmunoglobulin E syndrome, an immunodeficiency syndrome causing Staphylococcus aureus, Streptococcus pneumonia, Haemophilus influenzae, and, rarely, Pseudomonas aeruginosa and Aspergillus sp infections. Currently, intracellular pathogens are not targeted in the management of severe infections. The pathophysiologic mechanism of hyperimmunoglobulin E syndrome immunodeficiency has recently been linked to a disorder in the T helper 17 pathway and disruption of the interleukin -23/interleukin-17 axis...
June 2017: Pediatrics
https://www.readbyqxmd.com/read/28349010/tuberculosis-in-a-case-of-hyper-immunoglobulin-e-syndrome
#17
Renuka Ashtekar, Ira Shah
Hyper immunoglobulin E syndrome (HIES) is a rare primary immunodeficiency disorder characterized by elevated serum IgE, dermatitis, and immunodeficiency that predisposes to multiple skin and lung infections. The most frequent pathogen responsible for infections in these patients is Staphylococcus aureus. Tuberculosis (TB) in patients with HIES is an uncommon finding, and there are only a few reports of mycobacterial infections in known cases of HIES. We present a case of abdominal TB that developed in a 15-year-old boy who also had HIES...
October 2016: Journal of Family Medicine and Primary Care
https://www.readbyqxmd.com/read/28293550/dock-8-deficiency-ebv-lymphomatoid-granulomatosis-and-intrafamilial-variation-in-presentation
#18
Victoria R Dimitriades, Vincent Devlin, Stefania Pittaluga, Helen C Su, Steven M Holland, Wyndham Wilson, Kieron Dunleavy, Nirali N Shah, Alexandra F Freeman
Dedicator of cytokinesis 8 (DOCK8) deficiency is an autosomal recessive, combined immunodeficiency within the spectrum of hyper-IgE syndromes. Epstein-Barr virus-positive lymphomatoid granulomatosis (LYG) (EBV + LYG) is a rare diagnosis and a previously unreported presentation of DOCK8 deficiency. A 10-year-old girl was initially evaluated for mild eczema and recurrent sinopulmonary infections. She had normal immunoglobulins with elevated IgE, poor polysaccharide response with low switched memory B cells, low CD4 count, and normal mitogen and antigen responses...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28280372/pediatric-anaphylaxis-and-hyper-ige-syndrome
#19
Amrita Dosanjh
Patients with autosomal-dominant (AD) hyper immunoglobulin E (IgE) syndrome (HIES) or Job syndrome develop frequent dermatologic and pulmonary infections. As patients have an extreme elevation of IgE levels, this database analysis study sought to study the association between AD HIES, Job syndrome, and anaphylaxis. HIES is a heterogeneous group of immune disorders characterized by extremely elevated levels of serum IgE. Although the molecular defects and clinical phenotypes found in association with Job syndrome are well characterized, the association with severe allergic reactions and anaphylaxis is a subject of ongoing investigation...
2017: Journal of Asthma and Allergy
https://www.readbyqxmd.com/read/28222105/stat3-cdc25a-dependent-cell-proliferation-promotes-embryonic-axis-extension-during-zebrafish-gastrulation
#20
Yinzi Liu, Diane S Sepich, Lilianna Solnica-Krezel
Cell proliferation has generally been considered dispensable for anteroposterior extension of embryonic axis during vertebrate gastrulation. Signal transducer and activator of transcription 3 (Stat3), a conserved controller of cell proliferation, survival and regeneration, is associated with human scoliosis, cancer and Hyper IgE Syndrome. Zebrafish Stat3 was proposed to govern convergence and extension gastrulation movements in part by promoting Wnt/Planar Cell Polarity (PCP) signaling, a conserved regulator of mediolaterally polarized cell behaviors...
February 2017: PLoS Genetics
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