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Hyper IgE syndrome

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https://www.readbyqxmd.com/read/28095323/pattern-recognitions-receptors-in-immunodeficiency-disorders
#1
Esameil Mortaz, Ian M Adcock, Payam Tabarsi, Ilad Alavi Darazam, Masoud Movassaghi, Johan Garssen, Hamidreza Jamaati, Aliakbar Velayati
Pattern recognition receptors (PRRs) recognize common microbial or host-derived macromolecules and have important roles in early activation and response of the immune system. Initiation of the innate immune response starts with the recognition of microbial structures called pathogen associated molecular patterns (PAMPs). Recognition of PAMPs is performed by germline-encoded receptors expressed mainly on immune cells termed pattern recognition receptors (PRRs). Several classes of pattern recognition receptors (PRRs) are involved in the pathogenesis of diseases, including Toll-like receptors (TLRs), C-type lectin receptors (CLRs), and Nod-like receptors (NLRs)...
January 14, 2017: European Journal of Pharmacology
https://www.readbyqxmd.com/read/28090315/chronic-mucocutaneous-candidiasis-disease-associated-with-inborn-errors-of-il-17-immunity
#2
REVIEW
Satoshi Okada, Anne Puel, Jean-Laurent Casanova, Masao Kobayashi
Chronic mucocutaneous candidiasis (CMC) is characterized by recurrent or persistent infections affecting the nails, skin and oral and genital mucosae caused by Candida spp., mainly Candida albicans. CMC is an infectious phenotype in patients with inherited or acquired T-cell deficiency. Patients with autosomal-dominant (AD) hyper IgE syndrome (HIES), AD signal transducer and activator of transcription 1 (STAT1) gain-of-function, autosomal-recessive (AR) deficiencies in interleukin (IL)-12 receptor β1 (IL-12Rβ1), IL-12p40, caspase recruitment domain-containing protein 9 (CARD9) or retinoic acid-related orphan receptor γT (RORγT) or AR autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) develop CMC as a major infectious phenotype that is categorized as Syndromic CMC...
December 2016: Clinical & Translational Immunology
https://www.readbyqxmd.com/read/28078662/low-immunoglobulin-e-flags-two-distinct-types-of-immune-dysregulation
#3
M Elkuch, V Greiff, C T Berger, M Bouchenaki, T Daikeler, A Bircher, A A Navarini, I Heijnen, M Recher
During the last two decades, hyper-immunoglobulin (Ig)E syndromes have been characterized clinically and molecularly in patients with genetically determined primary immunodeficiencies. However, the detection of low IgE levels, defined here as below detection limit in the routine clinical immunology laboratory, has received little attention. We analysed the association of serum IgA, IgM and IgG levels (including IgG subclasses) with low, normal or high serum IgE levels in patients evaluated in a single-centre out-patient immunodeficiency and allergy clinic...
January 11, 2017: Clinical and Experimental Immunology
https://www.readbyqxmd.com/read/28070732/the-clinical-and-laboratory-spectrum-of-dedicator-of-cytokinesis-8-immunodeficiency-syndrome-in-patients-with-a-unique-mutation
#4
Arnon Broides, Amarilla B Mandola, Jacov Levy, Baruch Yerushalmi, Vered Pinsk, Michal Eldan, George Shubinsky, Nurit Hadad, Rachel Levy, Amit Nahum, Miriam Ben-Harosh, Atar Lev, Amos Simon, Raz Somech
Mutations in the dedicator of cytokinesis 8 (DOCK8) gene cause a combined immunodeficiency usually diagnosed as autosomal recessive hyper IgE syndrome. We sought to reveal the varying manifestations in patients with a unique mutation in DOCK8 gene by a retrospective medical record review. Ten patients from five consanguineous families and three tribes were included. Seven patients were homozygous for the c.C5134A, p.S1711X mutation, and the remaining three patients were their siblings manifesting hyper IgE syndrome features without a genetic diagnosis...
January 10, 2017: Immunologic Research
https://www.readbyqxmd.com/read/27890707/novel-mutation-in-dock8-hies-with-severe-phenotype-and-successful-transplantation
#5
Latifa Al Shekaili, Farrukh Sheikh, Sulaiman Al Gazlan, Hasan Al Dhekri, Hamoud Al Mousa, Abdulaziz Al Ghonaium, Bander Al Saud, Saleh Al Mohsen, Agha M Rehan Khaliq, Safiah Al Sumayli, Mufarreh Al Zahrani, Anas Dababo, Ammar AlKawi, Abbas Hawwari, Rand Arnaout
BACKGROUND: Hyper-IgE syndrome (HIES) due to DOCK8 deficiency is an autosomal recessive (AR) primary combined immunodeficiency which results in significant morbidity and mortality at a young age. Different mutations in the DOCK8 gene can lead to variable severity of the disease. OBJECTIVE: We evaluated the genetic mutations in three related patients with severe clinical manifestations suggestive of AR HIES. We also explored whether treatment with stem cell transplantation could lead to complete disease resolution...
November 23, 2016: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/27843873/liver-abscess-in-a-boy-with-hyper-ige-syndrome
#6
Sneha Nandy, Ira Shah
Hyper immunoglobulin-E syndrome is a rare primary immunodeficiency disease, characterized by the classical triad of recurrent staphylococcal skin abscesses, pneumonia with pneumatocele formation, and elevated levels of serum IgE, usually over 2000 IU/mL. Chronic granulomatous disease, hyper IgE, and complement deficiencies are immunopathologies known to be associated with liver abscesses. We present a 2 ½-year-old boy with liver abscess and associated hyper IgE.
April 2016: Journal of Family Medicine and Primary Care
https://www.readbyqxmd.com/read/27836070/erratum-to-quantitative-defects-in-invariant-nkt-cells-and-tlr-responses-in-patients-with-hyper-ige-syndrome-allergol-immunopathol-madr-43-6-2015-553-561
#7
S Gutierrez-Hincapié, C E Muskus-López, C J Montoya, J L Franco-Restrepo, C M Trujillo-Vargas
No abstract text is available yet for this article.
November 2016: Allergologia et Immunopathologia
https://www.readbyqxmd.com/read/27836054/clinical-phenotypes-of-hyper-igm-syndromes
#8
M Teresa de la Morena
The primary immunodeficiency (PID) diseases comprise a heterogeneous group of inherited disorders of immune function. Technical advancements in whole-genome, whole-exome, and RNA-sequencing have seen the explosion of genetic discoveries in the field of PIDs. The present review aims to focus on a group of immunodeficiency disorders associated with elevated levels of IgM (hyper IgM; HIGM) and provides a clinical differential diagnosis. Most patients present for evaluation of immunodeficiency due to recurrent infections, and laboratory studies show either a clear isolated elevation of serum immunoglobulin M (IgM) with low or absent IgG, IgA, and IgE...
November 2016: Journal of Allergy and Clinical Immunology in Practice
https://www.readbyqxmd.com/read/27803128/stat-mutations-as-program-switchers-turning-primary-immunodeficiencies-into-autoimmune-diseases
#9
REVIEW
Tiziana Lorenzini, Laura Dotta, Mauro Giacomelli, Donatella Vairo, Raffaele Badolato
STAT proteins are a family of transcription factors that mediate cellular response to cytokines and growth factors. Study of patients with familial susceptibility to pathogens and/or autoimmune diseases has led to the identification of 7 inherited disorders that are caused by mutations of 4 STAT family genes. Homozygous or compound heterozygous mutations of STAT1 lead to complete or partial forms of STAT1 deficiency that are associated with susceptibility to intracellular pathogens and herpetic infections. Patients with heterozygous STAT1 gain-of-function (GOF) mutations usually present with chronic mucocutaneous candidiasis (CMC) but may also experience bacterial and viral infections, autoimmune manifestations, lymphopenia, cerebral aneurysms, and increased risk to develop tumors...
January 2017: Journal of Leukocyte Biology
https://www.readbyqxmd.com/read/27799162/protein-stabilization-improves-stat3-function-in-autosomal-dominant-hyper-ige-syndrome
#10
Claire E Bocchini, Karen Nahmod, Panagiotis Katsonis, Sang Kim, Moses M Kasembeli, Alexandra Freeman, Olivier Lichtarge, George Makedonas, David J Tweardy
Autosomal dominant hyper-IgE syndrome (AD-HIES) is caused by dominant-negative mutations in STAT3; however, the molecular basis for mutant STAT3 allele dysfunction is unclear and treatment remains supportive. We hypothesized that AD-HIES mutations decrease STAT3 protein stability and that mutant STAT3 activity can be improved by agents that increase chaperone protein activity. We used computer modeling to characterize the effect of STAT3 mutations on protein stability. We measured STAT3 protein half-life (t1/2) and determined levels of STAT3 phosphorylated on tyrosine (Y) 705 (pY-STAT3) and mRNA levels of STAT3 gene targets in Epstein-Barr virus-transformed B (EBV) cells, human peripheral blood mononuclear cells (PBMCs), and mouse splenocytes incubated without or with chaperone protein modulators-HSF1A, a small-molecule TRiC modulator, or geranylgeranylacetone (GGA), a drug that upregulates heat shock protein (HSP) 70 and HSP90...
December 29, 2016: Blood
https://www.readbyqxmd.com/read/27795219/-hyper-ige-syndrome-lessons-from-function-and-defects-of-stat-3-or-dock-8
#11
Julio César Alcántara-Montiel, Brittany Itzel Vega-Torres
In the classification of primary immunodeficiencies, hyper-IgE syndrome, identified with OMIM code # 147060 in the Online Mendelian Inheritance in Man catalog, belongs to the group of syndromes associated with combined immunodeficiencies. It is characterized by elevated levels of IgE, eosinophilia, recurrent skin abscesses, pneumonia, lung parenchyma lesions, recurrent infections, rashes in newborns, eczema, sinusitis, otitis, and mucocutaneous candidiasis. Hyper-IgE syndrome can be transmitted by autosomal dominant or autosomal recessive modes of inheritance...
October 2016: Revista Alergia Mexico: Organo Oficial de la Sociedad Mexicana de Alergia e Inmunología, A.C
https://www.readbyqxmd.com/read/27759482/dermatologic-uses-of-omalizumab
#12
Justin C Chia, P Régine Mydlarski
PURPOSE: Omalizumab is a recombinant humanized monoclonal antibody that inhibits the binding of immunoglobulin E (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 1 January 1990 to 1 September 2016...
November 7, 2016: Journal of Dermatological Treatment
https://www.readbyqxmd.com/read/27733553/blomia-tropicalis-specific-tcr-transgenic-th2-cells-induce-inducible-balt-and-severe-asthma-in-mice-by-an-il-4-il-13-dependent-mechanism
#13
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...
November 15, 2016: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/27693026/hemoptysis-in-a-patient-with-elevated-immunoglobulin-e
#14
REVIEW
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...
November 2016: Journal of Allergy and Clinical Immunology in Practice
https://www.readbyqxmd.com/read/27575988/rags-and-bugs-an-alliance-for-autoimmunity
#15
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...
November 2016: Gut Microbes
https://www.readbyqxmd.com/read/27541375/treatment-of-allergic-rhinitis-with-cpg-oligodeoxynucleotides-alleviates-the-lower-airway-outcomes-of-combined-allergic-rhinitis-and-asthma-syndrome-via-a-mechanism-that-possibly-involves-in-tslp
#16
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
https://www.readbyqxmd.com/read/27516418/acquired-immune-deficiency-syndrome-in-differential-diagnosis-of-hyper-ige-immunoglobulinemia-pediatric-case-report
#17
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
https://www.readbyqxmd.com/read/27514600/hyper-ige-syndromes-and-the-lung
#18
REVIEW
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
https://www.readbyqxmd.com/read/27488252/somatic-mosaicism-in-b-cells-of-a-patient-with-autosomal-dominant-hyper-ige-syndrome
#19
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
https://www.readbyqxmd.com/read/27474157/th2-and-th9-responses-in-patients-with-chronic-mucocutaneous-candidiasis-and-hyper-ige-syndrome
#20
K L Becker, B Rösler, X Wang, E Lachmandas, M Kamsteeg, C W Jacobs, L A 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 patients with HIES 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 patients with CMC (n = 4), patients with HIES (n = 4), patients with atopic dermatitis (n = 4) and healthy volunteers (n = 13) were stimulated with Candida and Staphylococcus aureus, with and without IL-4...
December 2016: Clinical and Experimental Allergy: Journal of the British Society for Allergy and Clinical Immunology
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