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Hyper IgE syndrome

Justin C Chia, P Régine Mydlarski
PURPOSE: Omalizumab is a recombinant humanized monoclonal antibody that inhibits the binding of IgE to the high-affinity IgE receptor (FceRI) on the surface of mast cells and basophils. Omalizumab has been approved for use in asthma, and new reports show promise in a variety of dermatologic diseases. Herein, we review the literature on omalizumab in dermatology and discuss the safety, efficacy and mechanisms of action for this emerging therapy. MATERIALS AND METHODS: PubMED, MEDLINE, and Embase databases were searched for the period January 1, 1990, to September 1, 2016...
October 19, 2016: Journal of Dermatological Treatment
Yen Leong Chua, Ka Hang Liong, Chiung-Hui Huang, Hok Sum Wong, Qian Zhou, Say Siong Ler, Yafang Tang, Chin Pei Low, Hui Yu Koh, I-Chun Kuo, Yongliang Zhang, W S Fred Wong, Hong Yong Peh, Hwee Ying Lim, Moyar Qing Ge, Angela Haczku, Veronique Angeli, Paul A MacAry, Kaw Yan Chua, David M Kemeny
Previous studies have highlighted the importance of lung-draining lymph nodes in the respiratory allergic immune response, whereas the lung parenchymal immune system has been largely neglected. We describe a new in vivo model of respiratory sensitization to Blomia tropicalis, the principal asthma allergen in the tropics, in which the immune response is focused on the lung parenchyma by transfer of Th2 cells from a novel TCR transgenic mouse, specific for the major B. tropicalis allergen Blo t 5, that targets the lung rather than the draining lymph nodes...
October 12, 2016: Journal of Immunology: Official Journal of the American Association of Immunologists
Yael Gernez, Angela Tsuang, Tukisa D Smith, Khurram Shahjehan, Yiqun Hui, Paul J Maglione, Charlotte Cunningham-Rundles
Recurrent pneumonia with cavitation leading to pneumatoceles, secondary fungal infections, and hemoptysis are major causes of mortality and morbidity in patients with hyper-IgE syndrome. Prevention and aggressive treatment of pneumonia in these patients are essential to prevent further lung damage, but treatment may be delayed because the classic signs/symptoms of infection such as fever, chills, or rigors may be lacking. Early imaging to identify infection is essential for diagnosis and treatment. The mainstay of therapy is continuous, full-dose daily trimethoprim-sulfamethoxazole and commonly fungal coverage...
September 29, 2016: Journal of Allergy and Clinical Immunology in Practice
Rosita Rigoni, Fabio Grassi, Anna Villa, Barbara Cassani
Hypomorphic Rag mutations in humans cause Omenn Syndrome (OS) a severe immunodeficiency associated with autoimmune-like manifestations mediated by oligoclonal activated T and B cells. The clinical and immunological spectrum of OS presentation is extremely broad. However, the role played by environmental triggers in the disease pathogenesis remains largely unknown. We have recently shown in a murine model that gut microbiota has a substantial role in determining the distinctive immune dysregulation of OS. Here, we describe how dysbiosis and loss of T cell tolerance to commensals influence the expression of autoimmunity at the barrier site and beyond, and the disease hallmark hyper-IgE...
August 30, 2016: Gut Microbes
Hong-Tao Li, Zhuang-Gui Chen, Hui Liu, Jin Ye, Xiao-Ling Zou, Yan-Hong Wang, Hai-Ling Yang, Ping Meng, Tian-Tuo Zhang
PURPOSE: Thymic stromal lymphopoietin (TSLP) is a critical regulator of immune responses associated with Th2 cytokine-mediated inflammation. Intranasal administration of oligodeoxynucleotides with CpG motifs (CpG-ODNs) might improve lower airway outcomes of combined allergic rhinitis and asthma syndrome (CARAS), but the inherent mechanisms of CpG-ODNs are not well defined. This study investigated whether CpG-ODNs treated to upper airway could reduce lower airway TSLP expression as well as whether this reduction could contribute to the alleviation of lower allergic inflammation and airway hyper-reactivity (AHR) in CARAS mice...
August 2016: Experimental Lung Research
Manolya Acar, Murat Sutcu, Ozge Umur, Hacer Akturk, Selda Hancerli Torun, Zeynep Tamay, Nuran Salman, Ayper Somer
Acquired immune deficiency syndrome can be encountered with hypereosinophilia and hyperimmunoglobulin E (hyper-IgE) values, though these levels are rarely so high to be compared with hyperimmunoglobulin E syndrome. A 9-year-old boy presented with the complaint of fatigue, weakness, weight loss and generalized pruritic rash lasting for a year. He had frequent respiratory tract infections, wheezing episodes and urticarial skin lesions before that. On admission, he was cachectic and he had generalized lymphadenopathy, hepatosplenomegaly, oral moniliasis and pruritic rash all over his body...
August 10, 2016: Journal of Tropical Pediatrics
Alexandra F Freeman, Kenneth N Olivier
Elevated serum IgE has many etiologies including parasitic infection, allergy and asthma, malignancy, and immune dysregulation. The hyper-IgE syndromes caused by mutations in STAT3, DOCK8, and PGM3 are monogenic primary immunodeficiencies associated with high IgE, eczema, and recurrent infections. These primary immunodeficiencies are associated with recurrent pneumonias leading to bronchiectasis; however, each has unique features and genetic diagnosis is essential in guiding therapy, discussing family planning, and defining prognosis...
September 2016: Clinics in Chest Medicine
Julio C Alcántara-Montiel, Tamara Staines-Boone, Gabriela López-Herrera, Laura Berrón-Ruiz, Carlos R Borrego-Montoya, Leopoldo Santos-Argumedo
Hyper IgE syndrome (HIES) is characterized by recurrent skin abscesses, eczema, pneumonia, and high levels of serum IgE. Nonimmunologic manifestations of HIES include a characteristic face, pathologic dentition, scoliosis, bone alterations, hyperextensible joints, and vascular abnormalities. Somatic mosaicism is defined by the presence of two or more populations of cells with different genotypes in one individual. In this report, we describe one patient with classical HIES and another patient with a mild phenotype, both harboring the same genetic mutation...
October 2016: European Journal of Immunology
K L Becker, B Rösler, X Wang, E Lachmandas, Marijke Kamsteeg, C W Jacobs, L A B Joosten, M G Netea, F L van de Veerdonk
BACKGROUND: STAT1 mutations cause Chronic Mucocutaneous Candidiasis (CMC), while STAT3 mutations cause Hyper IgE syndrome (HIES). CMC and HIES patients have T helper(Th)17 defects suffering from mucosal Candida infections, but only HIES patients show an allergic phenotype with eczema, eosinophilia and high IgE levels. OBJECTIVE: We investigated whether differential Th2 and Th9 responses may explain the clinical differences. METHODS: Peripheral blood mononuclear cells of CMC patients (n=4), HIES patients (n=4), atopic dermatitis patients (n=4) and healthy volunteers (n=13) were stimulated with Candida and Staphylococcus aureus, with and without IL-4...
July 30, 2016: Clinical and Experimental Allergy: Journal of the British Society for Allergy and Clinical Immunology
Alisa Kane, Anthony Lau, Robert Brink, Stuart G Tangye, Elissa K Deenick
No abstract text is available yet for this article.
June 11, 2016: Journal of Allergy and Clinical Immunology
Cynthia J Koziol-White, Yanlin Jia, Gretchen A Baltus, Philip R Cooper, Dennis M Zaller, Michael A Crackower, Erich E Sirkowski, Steven Smock, Alan B Northrup, Blanca E Himes, Stephen E Alves, Reynold A Panettieri
BACKGROUND AND PURPOSE: Asthma manifests as a heterogeneous syndrome characterized by airway obstruction, inflammation and hyper-reactivity (AHR). Spleen tyrosine kinase (Syk) mediates allergen-induced mast cell degranulation, a central component of allergen-induced inflammation and AHR. However, the role of Syk in IgE-mediated constriction of human small airways remains unknown. In this study, we addressed whether selective inhibition of Syk attenuates IgE-mediated constriction and mast cell mediator release in human small airways...
July 15, 2016: British Journal of Pharmacology
Türkan Patıroğlu, Himmet Haluk Akar, Mehmet Sait Doğan, Kazım Üzüm
Dedicator of cytokinesis 8 protein (DOCK8) deficiency is an autosomal recessive, inherited form of hyper-immunoglobulin E (hyper-IgE) syndrome, characterized by persistent cutaneous viral infections, elevated IgE, eosinophilia, and allergic manifestations. The case of a 10-year-old boy who presented with giant aortic aneurysm between the aortic root and iliac bifurcation is described in the present report. Aortic aneurysm of this size has not yet been reported.
June 2016: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
Sevgi Keles, Louis Marie Charbonnier, Venkataraman Kabaleeswaran, Ismail Reisli, Ferah Genel, Nesrin Gulez, Waleed Al-Herz, Narayanaswamy Ramesh, Antonio Perez-Atayde, Neslihan Karaca Eeder, Necil Kutukculer, Hao Wu, Raif S Geha, Talal A Chatila
BACKGROUND: The autosomal recessive hyper-IgE syndrome (HIES) caused by dedicator of cytokinesis 8 (DOCK8) deficiency shares clinical features with autosomal dominant HIES because of signal transducer and activator of transcription 3 (STAT3) mutations, including recurrent infections and mucocutaneous candidiasis, which are suggestive of TH17 cell dysfunction. The mechanisms underlying this phenotypic overlap are unclear. OBJECTIVE: We sought to elucidate common mechanisms operating in the different forms of HIES...
May 24, 2016: Journal of Allergy and Clinical Immunology
Simon J Pelham, Helen C Lenthall, Elissa K Deenick, Stuart G Tangye
No abstract text is available yet for this article.
May 13, 2016: Journal of Allergy and Clinical Immunology
Sudha Sharma, Biman Saikia, Shubham Goel, Amit Rawat, Ranjana W Minz, Deepti Suri, Seema Chhabra, Surjit Singh
OBJECTIVES: To assess the utility of T helper17 (TH17) cell enumeration vis-à-vis National Institutes of Health (NIH) scoring in Hyper IgE syndrome (HIES). METHODS: Clinical phenotypes of Hyper IgE syndrome patients with and without STAT3 mutation were analysed and correlated with absolute eosinophil count, serum IgE levels and TH17 cell numbers in 19 patients with clinically suspected HIES and compared with healthy controls (n = 20). RESULTS: The difference in serum IgE between patients with and without STAT3 mutation and healthy controls was statistically significant (p < 0...
October 2016: Indian Journal of Pediatrics
Arzu Didem Yalcin, Betul Celik, Ata Nevzat Yalcin
CONTEXT: The term "asthma-chronic obstructive pulmonary disease (COPD) overlap syndrome" (ACOS) has been applied to the condition, in which a person has clinical features of both asthma and COPD. METHODS: The patients (N = 10) were presented to our clinic with low lung function, limited reversibility of airway obstruction, hyperinflation, abnormal body composition, dyspnea and episodic wheezing. Based on the clinical and laboratory findings, the patients were diagnosed with ACOS...
June 2016: Immunopharmacology and Immunotoxicology
Masakatsu Yanagimachi, Takashi Ohya, Tomoko Yokosuka, Ryosuke Kajiwara, Fumiko Tanaka, Hiroaki Goto, Takehiro Takashima, Tomohiro Morio, Shumpei Yokota
PURPOSE: Autosomal dominant hyper-IgE syndrome (AD-HIES) is included among primary immunodeficiencies, and results from heterozygous mutations in the signal transduction and activator of transcription 3 (STAT3) gene. AD-HIES leads to impaired Th17 cell differentiation and IL-17 production, and is associated with increased susceptibility to bacteria and fungi. It was reported that several patients with AD-HIES were treated with hematopoietic stem cell transplantation (HSCT). The efficacy of HSCT in treating AD-HIES is variable...
July 2016: Journal of Clinical Immunology
Valerie Hox, Michael P O'Connell, Jonathan J Lyons, Paul Sackstein, Thomas Dimaggio, Nina Jones, Celeste Nelson, Manfred Boehm, Steven M Holland, Alexandra F Freeman, David J Tweardy, Ana Olivera, Dean D Metcalfe, Joshua D Milner
BACKGROUND: During IgE-mediated immediate hypersensitivity reactions, vascular endothelial cells permeabilize in response to mast cell mediators. We have demonstrated previously that patients and mice with signal transducer and activator of transcription 3 (STAT3) mutations (autosomal dominant hyper-IgE syndrome [AD-HIES]) are partially protected from anaphylaxis. OBJECTIVES: We sought to study the mechanism by which STAT3 contributes to anaphylaxis and determine whether small-molecule inhibition of STAT3 can prevent anaphylaxis...
July 2016: Journal of Allergy and Clinical Immunology
Rosita Rigoni, Elena Fontana, Simone Guglielmetti, Bruno Fosso, Anna Maria D'Erchia, Virginia Maina, Valentina Taverniti, Maria Carmina Castiello, Stefano Mantero, Giovanni Pacchiana, Silvia Musio, Rosetta Pedotti, Carlo Selmi, J Rodrigo Mora, Graziano Pesole, Paolo Vezzoni, Pietro Luigi Poliani, Fabio Grassi, Anna Villa, Barbara Cassani
Omenn syndrome (OS) is caused by hypomorphic Rag mutations and characterized by a profound immunodeficiency associated with autoimmune-like manifestations. Both in humans and mice, OS is mediated by oligoclonal activated T and B cells. The role of microbial signals in disease pathogenesis is debated. Here, we show that Rag2(R229Q) knock-in mice developed an inflammatory bowel disease affecting both the small bowel and colon. Lymphocytes were sufficient for disease induction, as intestinal CD4 T cells with a Th1/Th17 phenotype reproduced the pathological picture when transplanted into immunocompromised hosts...
March 7, 2016: Journal of Experimental Medicine
Kamran Khan, Susan E Wozniak, Anna Lucia Giannone, Maria Elena Abdulmassih
BACKGROUND: Job's syndrome (hyper IgE syndrome) is a very rare primary immunodeficiency disease that has an annual approximate incidence of less than 1/1,000,000. This manuscript aims to provide education regarding diagnosis and management strategies of this syndrome worldwide. CASE REPORT: A 6-year-old boy was seen at the clinic secondary to persistent pruritus interfering with sleep. At the age of 2 months, the patient developed diffuse eczematous and desquamating skin lesions...
2016: American Journal of Case Reports
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