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Hyper IgE syndrome

Mohapatra Liza, Dash Gaurav, Mohanty Prasenjeet, Jena Swapna, Behera Binodini
The hyper-IgE syndrome (HIES) is a rare group of primary immunodeficiency characterised by recurrent infections, eczema, and elevated serum levels of IgE. Autosomal dominant HIES is caused by mutations in transcription factor - signal transducer and activator of transcription-3. Autosomal-recessive (AR) HIES was described in 2004 due to mutation of tyrosine kinase 2 gene, and subsequently, another mutation in dedicator of cytokinesis 8 gene was discovered in 2009. Although both the forms have many common clinical features, few characteristic findings help in differentiating them...
January 2018: Indian Journal of Dermatology
Kristin Moffitt, Elaine Cheung, John Manis, Richard Malley
Loss-of-function mutations in Signal Transducer and Activator of Transcription 3 gene ( stat3 ) result in Autosomal Dominant Hyper IgE Syndrome (AD-HIES), a condition in which patients have recurrent debilitating infections, including frequent pneumococcal and staphylococcal pneumonias. Stat3 mutations cause defective adaptive TH 17-cellular responses, an immune mechanism believed to be critical for clearance of pneumococcal colonization, and diminished antibody responses. Here we wished to evaluate the role of stat3 in clearance of pneumococcal carriage and immunity using mice with a stat3 mutation recapitulating AD-HIES...
February 20, 2018: Infection and Immunity
Shan Wang, Wenjun Mou, Zhe Xu, Jingang Gui, Lin Ma
The hyper-IgE syndromes (HIES) are complex primary immunodeficiency disorders, including autosomal dominant form (AD-HIES) and recessive form (AR-HIES). Here we describe two boys with AR-HIES in a Chinese family and a novel mutation of DOCK8 gene was identified.The index patient was an 8-year-old boy. He presented with recurrent flexural skin lesions (similar with atopic dermatitis (AD)) for more than 5 years (Fig. 1a,b), and a 6-months history of severe molluscum contagiosum(Fig. 1c) and verruca plana(Fig...
February 8, 2018: Journal of the European Academy of Dermatology and Venereology: JEADV
Joshua D Milner
Dominant negative mutations in STAT3, a critical signaling molecule and transcription factor in multiple organ systems, lead to a rare monogenic disease called the STAT3 loss-of-function, autosomal dominant hyper-IgE syndrome (STAT3LOF AD-HIES). The original name for this syndrome, Job's syndrome, was derived from the observation that patients had a propensity to develop skin boils, reminiscent of the affliction cast upon the biblical Job. Many fascinating observations have been made regarding the pathogenesis of the disease and the role STAT3 plays in human health and disease...
January 29, 2018: Rambam Maimonides Medical Journal
Yusuke Okada, Taku Watanabe, Toru Shoji, Kyoko Taguchi, Naohisa Ogo, Akira Asai
Dimerization in signal transduction is a dynamically regulated process and a key regulatory mechanism. Signal transducer and activator of transcription 3 (STAT3) dimerizes after tyrosine phosphorylation upon cytokine stimulation. Because only the STAT3 dimer possesses the trans-activation activity, dimerization is an indispensable process for cytokine signaling. Here we report the detection of dynamic STAT3 dimerization in living cells using the homoFluoppi system. This method allowed us to validate the presence of an intact Src homology 2 domain and STAT3 Tyr705 phosphorylation, which facilitate puncta formation and homodimerization...
February 5, 2018: Scientific Reports
H Devilliers, A Turcu, N Vernier, G Muller, P Bielefeld, P Bonniaud, J-F Besancenot
Hyper-IgE may be found under many pathological conditions. The role of IgE is essentially associated with the occurrence of allergic manifestations, which may be accompanied by an increase of their serum levels. Elevation of total IgE has also been reported in association with certain rare genetic immune deficiencies called hyper-IgE syndromes. Other circumstances such as infectious diseases, tumors or autoimmune diseases may also be accompanied by an excessive synthesis of IgE. Considering the diversity of these situations, discussion of the prognostic value of total IgE is useful to the internist...
January 31, 2018: La Revue de Médecine Interne
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
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
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)
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
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
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
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
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
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
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
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
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
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
Thomas G Knoedler, Gregory T Minutillo, Russell W Steele
No abstract text is available yet for this article.
August 2017: Clinical Pediatrics
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