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Hyper IgE syndrome

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https://www.readbyqxmd.com/read/29314737/airway-inflammation-in-sickle-cell-disease-a-translational-perspective
#1
REVIEW
Aliva De, Deepa Manwani, Deepa Rastogi
Asthma and sickle cell disease (SCD) are common chronic conditions in children of African ancestry that are characterized by cough, wheeze, and obstructive patterns on pulmonary function. Pulmonary function testing in children with SCD has estimated a prevalence of obstructive lung disease ranging from 13% to 57%, and airway hyper-responsiveness of up to 77%, independent of a diagnosis of asthma. Asthma co-existing with SCD is associated with increased risk of acute chest syndrome (ACS), respiratory symptoms, pain episodes, and death...
January 4, 2018: Pediatric Pulmonology
https://www.readbyqxmd.com/read/29248323/staphylococcal-scalded-skin-syndrome-an-uncommon-symptomatology-revealing-an-immune-deficiency
#2
H Ajmi, N Jemmali, S Mabrouk, S Hassayoun, M Ben-Ali, M-R Barbouche, M Mokni, S Abroug
Primary immune deficiencies associated with hyper-IgE syndrome are rare diseases with clinical features dominated by recurring cutaneous and visceral bacterial infections, particularly infections due to Staphylococcus species. Most of these infections are associated with milder inflammation compared to normal. We report a primary immune deficiency associated with a hyper-IgE syndrome revealed by a staphylococcal scalded skin syndrome in a 5-year-old girl. The patient presented with a severe staphylococcal infection with extensive skin lesions and disseminated intravascular coagulation...
December 13, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/29245273/a-delayed-diagnosis-of-x-linked-hyper-igm-syndrome-complicated-with-toxoplasmic-encephalitis-in-a-child-a-case-report-and-literature-review
#3
Xiaoliang Liu, Kaiyu Zhou, Dan Yu, Xiaotang Cai, Yimin Hua, Hui Zhou, Chuan Wang
INTRODUCTION: The X-linked hyper-immunoglobulin M syndrome (XHIGM) is an uncommon primary combined immunodeficiency disease caused by CD40L gene mutations. A delayed or missed diagnosis of XHIGM is common and concerning, owing to atypical immunoglobulin profile and phenotype of some patients, low recognition, and limited knowledge of clinicians on XHIGM in some underdeveloped areas. Opportunistic infections are a prominent clinical feature of XHIGM. However, toxoplasma encephalitis occurs sporadically and is extremely rare in patients with XHIGM...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29204384/approach-to-a-child-with-primary-immunodeficiency-made-simple
#4
REVIEW
Dhrubajyoti Sharma, Ankur K Jindal, Amit Rawat, Surjit Singh
Primary immunodeficiency disorders (PIDs) are a group of disorders affecting the capability to fight against infection. These include defects in T cells and B cells affecting cell-mediated and humoral immunity, respectively, combined humoral and cell-mediated immunodeficiency, defects in phagocytosis, complement defects, and defects in cytokine or cytokine signalling pathways which are detrimental for immune function. Depending upon the type and severity, age at onset of symptoms can vary from neonatal period to late childhood...
November 2017: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/29132233/prospects-for-modulating-the-cd40-cd40l-pathway-in-the-therapy-of-the-hyper-igm-syndrome
#5
Xiangxue Meng, Bin Yang, Wen-Chen Suen
The critical role of the CD40/CD40L pathway in B-cell proliferation, immunoglobulin (Ig) isotype switching and germinal center formation has been studied and described extensively in previous literature. Interruption of the CD40/CD40L signal causes hyper-IgM (HIGM) syndrome, which has been classified and recognized as a group of rare inherited immune deficiency disorders. Defects in CD40 and CD40L interactions or in downstream signaling molecules, including activation-induced cytidine deaminase, uracyl-DNA-glycosylase, NF-κB and DNA repair enzymes, result in an increased level of serum IgM and a significantly decreased or absent level of IgA, IgG and IgE that is accompanied by severe recurrent infections and autoimmune diseases...
January 1, 2017: Innate Immunity
https://www.readbyqxmd.com/read/29093656/functional-defects-in-type-3-innate-lymphoid-cells-and-classical-monocytes-in-a-patient-with-hyper-ige-syndrome
#6
Yuna Chang, Sung-Yoon Kang, Jihyun Kim, Hye-Ryun Kang, Hye Young Kim
Hyper-IgE syndrome (HIES) is a very rare primary immune deficiency characterized by elevated serum IgE levels, recurrent bacterial infections, chronic dermatitis, and connective tissue abnormalities. Autosomal dominant (AD) HIES involves a mutation in signal transducer and activator of transcription 3 (STAT3) that leads to an impaired TH17 response. STAT3 signaling is also involved in the function of RORγt(+) type 3 innate lymphoid cells (ILC3s) and RORγt(+)TH17 cells. The aim of this study was to investigate the role of innate immune cells such as innate lymphoid cells (ILCs), granulocytes, and monocytes in a patient with HIES...
October 2017: Immune Network
https://www.readbyqxmd.com/read/28939137/autosomal-dominant-hyper-ige-syndrome-in-the-usidnet-registry
#7
Yael Gernez, Alexandra F Freeman, Steven M Holland, Elizabeth Garabedian, Niraj C Patel, Jennifer M Puck, Kathleen E Sullivan, Javeed Akhter, Elizabeth Secord, Karin Chen, Rebecca Buckley, Elie Haddad, Hans D Ochs, Ramsay Fuleihan, John Routes, Mica Muskat, Patricia Lugar, Julien Mancini, Charlotte Cunningham-Rundles
BACKGROUND: Autosomal dominant hyper-IgE syndrome (AD-HIES) is a rare condition. OBJECTIVE: Data from the USIDNET Registry provide a resource to examine the characteristics of patients with rare immune deficiency diseases. METHODS: A query was submitted to the USIDNET requesting deidentified data for patients with physician-diagnosed AD-HIES through July 2016. RESULTS: Data on 85 patients diagnosed with AD-HIES (50 males; 35 females) born between 1950 and 2013, collected by 14 physicians from 25 states and Quebec, were entered into the USIDNET Registry by July 2016...
September 19, 2017: Journal of Allergy and Clinical Immunology in Practice
https://www.readbyqxmd.com/read/28938255/scabies-periorbital-cellulitis-and-recurrent-skin-abscesses-due-to-panton-valentine-leukocidin-positive-staphylococcus-aureus-mimic-hyper-ige-syndrome-in-an-infant
#8
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 2-month-old infant who 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.
December 2017: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28902078/squamous-cell-carcinoma-with-hyper-ige-syndrome-a-case-report
#9
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
#10
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
#11
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)...
October 2017: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/28794229/dock8-drives-src-dependent-nk-cell-effector-function
#12
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
#13
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
#14
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
#15
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...
September 10, 2017: Gene
https://www.readbyqxmd.com/read/28702026/lessons-from-genetic-studies-of-primary-immunodeficiencies-in-a-highly-consanguineous-population
#16
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
#17
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
#18
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
#19
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...
August 2017: European Journal of Immunology
https://www.readbyqxmd.com/read/28607797/hyper-ige-syndrome-and-renal-cell-carcinoma
#20
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
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