Abstract:
PURPOSE OF REVIEW:This review discusses the strengths and challenges of using whole genome sequencing (WGS)/whole exome sequencing (WES) for identifying novel genetic causes of primary immunodeficiencies. RECENT FINDINGS:WGS permits comprehensive sequencing of introns and exons, whereas WES allows deeper sequencing of exonic regions at a lower cost. Due to the large number of genetic variants found in each genome, it is necessary to use filtering approaches to distinguish deleterious from benign variants. WES has been used successfully to identify novel genetic causes of primary immunodeficiency. Complex structural variations and non-Mendelian disorders remain challenges for WGS/WES. SUMMARY:WGS/WES is a powerful screening tool with great potential to identify genetic causes of primary immunodeficiencies for research and clinical applications. To use WGS/WES effectively, it is necessary to understand how to filter the sequencing data and to realize its limitations as well as its strengths.
journal_name
Curr Opin Allergy Clin Immunoljournal_title
Current opinion in allergy and clinical immunologyauthors
Chou J,Ohsumi TK,Geha RSdoi
10.1097/ACI.0b013e3283588ca6subject
Has Abstractpub_date
2012-12-01 00:00:00pages
623-8issue
6eissn
1528-4050issn
1473-6322pii
00130832-201212000-00009journal_volume
12pub_type
杂志文章,评审abstract:PURPOSE OF REVIEW:An inverse relationship between resistance to certain parasitic diseases and measures of atopy and asthma has long been observed. A possible explanation is that genetic determinants which confer protection against detrimental worm burdens are the same determinants involved in atopic asthma. The focus ...
journal_title:Current opinion in allergy and clinical immunology
pub_type: 杂志文章,评审
doi:10.1097/01.all.0000182543.37724.7b
更新日期:2005-10-01 00:00:00
abstract:PURPOSE OF REVIEW:To review recent developments on the inter-relationship between food allergy and atopic eczema, with a particular focus on understanding the role of filaggrin gene defects. RECENT FINDINGS:Filaggrin gene defects have recently been identified as a major risk factor for the development of atopic eczema...
journal_title:Current opinion in allergy and clinical immunology
pub_type: 杂志文章,评审
doi:10.1097/ACI.0b013e3283387fae
更新日期:2010-06-01 00:00:00
abstract::The role of indoor allergen exposure in the development of sensitization and asthma remains a subject of controversy. From a number of cross-sectional and longitudinal studies we can conclude that there is a very close association between allergen exposure and the sensitization of an individual. The dose-response rela...
journal_title:Current opinion in allergy and clinical immunology
pub_type: 杂志文章,评审
doi:10.1097/01.all.0000011053.76412.14
更新日期:2001-10-01 00:00:00
abstract:PURPOSE OF REVIEW:To describe the recent insights into the definition, causes, natural outcome, and key elements of irritant-induced asthma (IIA) management. RECENT FINDINGS:IIA is a subtype of occupational asthma without immunologic sensitization and includes the typical reactive airway dysfunction syndrome (RADS) an...
journal_title:Current opinion in allergy and clinical immunology
pub_type: 杂志文章,评审
doi:10.1097/ACI.0b013e32835143b8
更新日期:2012-04-01 00:00:00
abstract:PURPOSE OF REVIEW:Although cough is one of the defining symptoms of asthma, wheeze, chest tightness and breathlessness have generally received more attention. The impact of coughing for patients may be more important than currently appreciated and has been rated more troublesome than wheeze, chest tightness or disturba...
journal_title:Current opinion in allergy and clinical immunology
pub_type: 杂志文章,评审
doi:10.1097/ACI.0b013e328334e75f
更新日期:2010-02-01 00:00:00
abstract:PURPOSE OF REVIEW:This review summarizes current knowledge regarding the control of human mast cell and basophil signaling and recent developments using a new therapeutic platform consisting of a human bifunctional gamma and epsilon heavy chain (Fc gamma-Fc epsilon) protein to inhibit allergic reactivity. RECENT FINDI...
journal_title:Current opinion in allergy and clinical immunology
pub_type: 杂志文章,评审
doi:10.1097/00130832-200412000-00015
更新日期:2004-12-01 00:00:00
abstract:PURPOSE OF REVIEW:Asthma is the most common, potentially serious medical problem to complicate pregnancy. Women with asthma have been shown to be at increased risk of complications during pregnancy. Managing asthma during pregnancy is unique because the effect of both the illness and the treatment on the developing fet...
journal_title:Current opinion in allergy and clinical immunology
pub_type: 杂志文章,评审
doi:10.1097/01.all.0000168786.59335.c3
更新日期:2005-06-01 00:00:00
abstract:PURPOSE OF REVIEW:New biological agents, in addition to the well-established omalizumab, have been nowadays introduced into clinical practice for severe asthma. This suggested the possibility of an at-home self-administration, as currently happening for other biological agents for immune-mediated diseases. RECENT FIND...
journal_title:Current opinion in allergy and clinical immunology
pub_type: 杂志文章
doi:10.1097/ACI.0000000000000656
更新日期:2020-08-01 00:00:00
abstract:PURPOSE OF REVIEW:During the past decade, easy access to sequence analyses has allowed us to increase our understanding of the pathogenesis of severe combined immunodeficiencies. Here, we describe the expanding clinical and immunological spectrum associated with Omenn syndrome phenotype. In particular, we review the ce...
journal_title:Current opinion in allergy and clinical immunology
pub_type: 杂志文章,评审
doi:10.1097/ACI.0b013e32834c311a
更新日期:2011-12-01 00:00:00
abstract:PURPOSE OF REVIEW:The main feature of allergen-specific immunotherapy is its capacity to modify the natural history of the disease, reducing the development of asthma and new sensitizations after 3-4 years of treatment. For this reason, adherence to the therapy is mandatory, as happens for all chronic medical treatment...
journal_title:Current opinion in allergy and clinical immunology
pub_type: 杂志文章,评审
doi:10.1097/ACI.0b013e328332b8df
更新日期:2009-12-01 00:00:00
abstract:PURPOSE OF REVIEW:Umbilical cord haematopoietic stem cell transplantation for primary immunodeficiencies is examined with other developments in treatment. Cord blood biology is reviewed, and advantages and disadvantages of umbilical cord blood stem cell transplantation for primary immunodeficiencies discussed. Clinical...
journal_title:Current opinion in allergy and clinical immunology
pub_type: 杂志文章,评审
doi:10.1097/ACI.0b013e3282f1d6b6
更新日期:2007-12-01 00:00:00
abstract:PURPOSE OF REVIEW:The autoimmune lymphoproliferative syndrome is a recently identified human disorder of lymphocyte apoptosis that has provided important information about Fas-mediated lymphocyte apoptosis. In this review we summarize current information regarding the diagnosis, management and underlying molecular basi...
journal_title:Current opinion in allergy and clinical immunology
pub_type: 杂志文章,评审
doi:10.1097/00130832-200412000-00005
更新日期:2004-12-01 00:00:00
abstract:PURPOSE OF REVIEW:The increase in asthma prevalence over the past 50 years suggests that exposures to environmental risk factors have also increased during this time. Environmental tobacco smoke is one of the most common indoor air pollutants and has been associated in epidemiologic studies with airway and allergic phe...
journal_title:Current opinion in allergy and clinical immunology
pub_type: 杂志文章,评审
doi:10.1097/00130832-200410000-00002
更新日期:2004-10-01 00:00:00
abstract:PURPOSE OF REVIEW:The phenomenon of intrinsic or nonatopic asthma continues to raise questions about the possible role of IgE-mediated mechanisms in asthma pathogenesis. With the current availability of anti-IgE therapy for asthma, clarification of this issue has never been more timely and relevant. RECENT FINDINGS:Th...
journal_title:Current opinion in allergy and clinical immunology
pub_type: 杂志文章,评审
doi:10.1097/00130832-200402000-00011
更新日期:2004-02-01 00:00:00
abstract:PURPOSE OF REVIEW:Vitamin D deficiency has been rediscovered as a public-health problem worldwide. It has been postulated that vitamin D deficiency may explain a portion of the asthma epidemic. The purpose of this review is to present the evidence for a role of vitamin D in asthma. RECENT FINDINGS:Both animal models a...
journal_title:Current opinion in allergy and clinical immunology
pub_type: 杂志文章,评审
doi:10.1097/ACI.0b013e32832b36cd
更新日期:2009-06-01 00:00:00
abstract:PURPOSE OF REVIEW:To present an update on the recent advances in the understanding of the mechanisms and practical management of oral mite anaphylaxis (OMA, pancake syndrome). RECENT FINDINGS:Among novel observations regarding OMA, this review highlights the increased prevalence of aspirin/NSAID hypersensitivity inpat...
journal_title:Current opinion in allergy and clinical immunology
pub_type: 杂志文章
doi:10.1097/ACI.0000000000000624
更新日期:2020-06-01 00:00:00
abstract:PURPOSE OF REVIEW:Anaphylactic cardiovascular collapse can be resistant to treatment with epinephrine (adrenaline) and, in some cases, diagnostic uncertainty compromises follow-up care. The purpose of this review is to examine recent studies relevant to the management and diagnosis of this condition. RECENT FINDINGS:N...
journal_title:Current opinion in allergy and clinical immunology
pub_type: 杂志文章,评审
doi:10.1097/01.all.0000174158.78626.35
更新日期:2005-08-01 00:00:00
abstract:PURPOSE OF REVIEW:Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are life-threatening severe adverse drug reactions. Once thought to be idiosyncratic and unpredictable, there has been significant progress made in the understanding of the pathomechanism and pharmacogenetics of such reactions. These ...
journal_title:Current opinion in allergy and clinical immunology
pub_type: 杂志文章,评审
doi:10.1097/ACI.0b013e3283630cc2
更新日期:2013-08-01 00:00:00
abstract::Ocular allergy presents unsolved mysteries in molecular and cellular mechanisms, and at the same time continues to challenge ophthalmologists daily in a wide array of disease forms. The recent understanding of the key role of the T helper type 2 cytokines, adhesion molecules and chemokines may provide future avenues f...
journal_title:Current opinion in allergy and clinical immunology
pub_type: 杂志文章,评审
doi:10.1097/01.all.0000011063.28808.cc
更新日期:2001-10-01 00:00:00
abstract:PURPOSE OF REVIEW:Baker's allergy and asthma continue to represent an important contributor of occupational asthma globally. This review identified recent studies related to the prevention of baker's allergy and asthma. RECENT FINDINGS:Studies with respect to regulatory exposure standards, workplace control measures a...
journal_title:Current opinion in allergy and clinical immunology
pub_type: 杂志文章
doi:10.1097/ACI.0000000000000612
更新日期:2020-04-01 00:00:00
abstract:PURPOSE OF REVIEW:Omalizumab has been proposed for controlling adverse reactions during drug desensitization. Our aim is to know the current evidence involving the use of omalizumab in drug-allergy desensitization. RECENT FINDINGS:Drug-allergy desensitization is not risk free, but it is a useful procedure and has been...
journal_title:Current opinion in allergy and clinical immunology
pub_type: 杂志文章
doi:10.1097/ACI.0000000000000648
更新日期:2020-08-01 00:00:00
abstract:PURPOSE OF REVIEW:The increasing prevalence of allergic rhinitis, its impact on individual quality of life and social costs, as well as its role as a risk factor for asthma, underline the need for improved treatment options for this disorder. We reviewed the recent literature published in English, dealing with relevant...
journal_title:Current opinion in allergy and clinical immunology
pub_type: 杂志文章,评审
doi:10.1097/00130832-200302000-00004
更新日期:2003-02-01 00:00:00
abstract:PURPOSE OF REVIEW:Key aspects and outcomes from the recently published guidance on the regulation of allergen products are summarized. RECENT FINDINGS:A new regulatory guideline has been published to enhance harmonized national approaches on the regulation of allergen products and thereby strengthen the availability o...
journal_title:Current opinion in allergy and clinical immunology
pub_type: 杂志文章
doi:10.1097/ACI.0000000000000687
更新日期:2020-12-01 00:00:00
abstract:PURPOSE OF REVIEW:To remind readers that evaporative water loss from the airway surface is the stimulus for exercise-induced bronchoconstriction. To emphasize that recruitment of the peripheral airways determines severity of exercise-induced bronchoconstriction. To draw attention to the potential for injury of the epit...
journal_title:Current opinion in allergy and clinical immunology
pub_type: 杂志文章,评审
doi:10.1097/01.all.0000199797.02423.78
更新日期:2006-02-01 00:00:00
abstract:PURPOSE OF REVIEW:In this review, we summarize the latest publications on the genetic and environmental determinants of allergic rhinitis. RECENT FINDINGS:Recent advances in genetic technology and bioinformatics have enabled simultaneous unbiased analysis of the entire genome regarding DNA sequence variants, epigeneti...
journal_title:Current opinion in allergy and clinical immunology
pub_type: 杂志文章,评审
doi:10.1097/ACI.0000000000000207
更新日期:2015-10-01 00:00:00
abstract:PURPOSE OF REVIEW:Atopic dermatitis is typified by itchy, inflamed skin. It is increasingly common in the developed world and is a major cause of morbidity in infants and young children. Most children with the disease have high levels of immunoglobulin E and many have concomitant asthma. The cause of the disease is unk...
journal_title:Current opinion in allergy and clinical immunology
pub_type: 杂志文章,评审
doi:10.1097/00130832-200210000-00003
更新日期:2002-10-01 00:00:00
abstract:PURPOSE OF REVIEW:Unverified penicillin allergy is being increasingly recognized as a public health concern. The ideal protocol for verifying true clinically significant IgE-mediated penicillin allergy needs to use only commercially available materials, be well tolerated and easy to perform in both the inpatient and ou...
journal_title:Current opinion in allergy and clinical immunology
pub_type: 杂志文章,评审
doi:10.1097/ACI.0000000000000173
更新日期:2015-08-01 00:00:00
abstract:PURPOSE:The aim of this review is to highlight the prevalence of allergic rhinitis in athletes and the impact this condition may have on their athletic performance. Furthermore, the optimal management of medical conditions in the elite athlete forms an important part of protecting the health of the athlete. RECENT FIN...
journal_title:Current opinion in allergy and clinical immunology
pub_type: 杂志文章,评审
doi:10.1097/ACI.0b013e3283445852
更新日期:2011-04-01 00:00:00
abstract:PURPOSE OF REVIEW:Despite asthma being widely regarded as a heterogeneous disease, a consensus for an accurate system of classification has not been agreed. Recent studies have suggested that the recognition of subphenotypes of asthma based on the pattern of airway inflammation may be particularly useful in increasing ...
journal_title:Current opinion in allergy and clinical immunology
pub_type: 杂志文章,评审
doi:10.1097/ACI.0b013e3280118a32
更新日期:2007-02-01 00:00:00
abstract:PURPOSE OF REVIEW:Due to the continuously changing environmental conditions, it is necessary to regularly monitor and update the spectrum of contact allergens that elicit contact dermatitis. New contact allergens and known contact allergens with currently increasing importance need to be identified for diagnostic and p...
journal_title:Current opinion in allergy and clinical immunology
pub_type: 杂志文章,评审
doi:10.1097/ACI.0b013e3282a64241
更新日期:2007-10-01 00:00:00