Diagnostic Tools for Inborn Errors of Human Immunity (Primary Immunodeficiencies and Immune Dysregulatory Diseases).

Abstract:

PURPOSE OF REVIEW:The purpose of this review is to provide an overview of diagnostic testing in primary immunodeficiency and immune dysregulatory disorders (PIDDs), particularly focusing on flow cytometry and genetic techniques, utilizing specific examples of PIDDs. RECENT FINDINGS:Flow cytometry remains a vital tool in the diagnosis and monitoring of immunological diseases. Its utility ranges from cellular analysis and specific protein quantitation to functional assays and signaling pathway analysis. Mass cytometry combines flow cytometry and mass spectrometry to dramatically increase the throughput of multivariate single-cell analysis. Next-generation sequencing in combination with other molecular techniques and processing algorithms has become more widely available and identified the diverse and heterogeneous genetic underpinnings of these disorders. As the spectrum of disease is further clarified by increasing immunological, genetic, and epigenetic knowledge, the careful application of these diagnostic tools and bioinformatics will assist not only in our understanding of these complex disorders, but also enable the implementation of personalized therapeutic approaches for disease management.

authors

Richardson AM,Moyer AM,Hasadsri L,Abraham RS

doi

10.1007/s11882-018-0770-1

subject

Has Abstract

pub_date

2018-02-22 00:00:00

pages

19

issue

3

eissn

1529-7322

issn

1534-6315

pii

10.1007/s11882-018-0770-1

journal_volume

18

pub_type

杂志文章,评审
  • Dysregulation of Innate Lymphoid Cells in Common Variable Immunodeficiency.

    abstract::Common variable immunodeficiency (CVID) is the most prevalent symptomatic primary immune deficiency. With widespread use of immunoglobulin replacement therapy, non-infectious complications, such as autoimmunity, chronic intestinal inflammation, and lung disease, have replaced infections as the major cause of morbidity...

    journal_title:Current allergy and asthma reports

    pub_type: 杂志文章,评审

    doi:10.1007/s11882-017-0746-6

    authors: Maglione PJ,Cols M,Cunningham-Rundles C

    更新日期:2017-10-05 00:00:00

  • The use of patch testing in the diagnosis of food allergy.

    abstract::Diagnosing food allergies can be challenging to the practitioner. Our armamentarium includes standardized skin prick testing, radioallergoimmunosorbent (RAST) testing, and food challenges. These methods have certainly been helpful in the IgE-mediated disorders, including urticaria and anaphylaxis. However, diagnosing ...

    journal_title:Current allergy and asthma reports

    pub_type: 杂志文章,评审

    doi:10.1007/s11882-005-0061-5

    authors: Spergel JM,Brown-Whitehorn T

    更新日期:2005-01-01 00:00:00

  • Sublingual immunotherapy in pediatric allergic rhinitis and asthma: efficacy, safety, and practical considerations.

    abstract::Specific allergen immunotherapy (SIT) is the only disease-modifying treatment for allergic rhinitis and asthma. Subcutaneous immunotherapy (SCIT) is the only method with a US Food and Drug Administration (FDA)-approved formulation, but safety concerns limit administration to medical facilities. Sublingual immunotherap...

    journal_title:Current allergy and asthma reports

    pub_type: 杂志文章,评审

    doi:10.1007/s11882-007-0063-6

    authors: Cox L

    更新日期:2007-11-01 00:00:00

  • Urticaria pigmentosa and mastocytosis: the role of immunophenotyping in diagnosis and determining response to treatment.

    abstract::Recent advances in our understanding of mast cell biology and disease resulted in identification of important differences in expression of mast cell surface antigens in normal and neoplastic mast cells. Most notably, detection of aberrant expression of CD25 and CD2 on the surface of neoplastic mast cells but not on th...

    journal_title:Current allergy and asthma reports

    pub_type: 杂志文章,评审

    doi:10.1007/s11882-006-0061-0

    authors: Akin C,Valent P,Escribano L

    更新日期:2006-07-01 00:00:00

  • Antibiotic theory in otitis media.

    abstract::Otitis media is currently the most common diagnosis made by clinicians, which has a major impact on managed care. The emergence of resistant bacterial pathogens has caused controversy over the use of antibiotics when acute otitis media (AOM) is diagnosed. All infants with AOM and all older children with severe AOM sho...

    journal_title:Current allergy and asthma reports

    pub_type: 杂志文章,评审

    doi:10.1007/s11882-001-0050-2

    authors: Gungor A,Bluestone CD

    更新日期:2001-07-01 00:00:00

  • Cyclooxygenases and the pathogenesis of chronic rhinosinusitis and nasal polyposis.

    abstract::Cyclooxygenase (COX) enzymes catalyze the rate-limiting steps in prostaglandin synthesis. Prostaglandins have an important role in several physiological processes such as maintenance of gastrointestinal integrity and pathological processes such as inflammation and neoplasia. Several mechanisms have been proposed for t...

    journal_title:Current allergy and asthma reports

    pub_type: 杂志文章,评审

    doi:10.1007/s11882-008-0037-3

    authors: Guilemany JM,Roca-Ferrer J,Mullol J

    更新日期:2008-05-01 00:00:00

  • Oral tolerance of food.

    abstract::The gut-associated lymphoid tissue is the specialized arm of the immune system responsible for distinguishing innocuous dietary nutrients, self-proteins, and gut flora from pathogens. Oral tolerance is the active immunologic response to innocuous ingested antigens that leads to a systemic tolerance for that antigen. T...

    journal_title:Current allergy and asthma reports

    pub_type: 杂志文章,评审

    doi:10.1007/s11882-002-0043-9

    authors: Stanley S

    更新日期:2002-01-01 00:00:00

  • Epinephrine autoinjector refill history in an HMO.

    abstract::Epinephrine can be lifesaving in episodes of anaphylaxis, yet it is underprescribed and underused. Tracking of epinephrine refills over time for patients with a diagnosis of anaphylaxis has not been reported. This study reports on the refill history of 14,677 patients in a large HMO who received an initial dispensing ...

    journal_title:Current allergy and asthma reports

    pub_type: 杂志文章

    doi:10.1007/s11882-010-0155-6

    authors: Kaplan MS,Jung SY,Chiang ML

    更新日期:2011-02-01 00:00:00

  • Midfacial segment pain: implications for rhinitis and sinusitis.

    abstract::During the past decade, studies on facial pain have shown that there is a distinct group of patients who have a form of facial neuralgia that has all the characteristics of tension-type headache, except that it affects the midface; it is called midfacial segment pain. The pain is described as a feeling of pressure, al...

    journal_title:Current allergy and asthma reports

    pub_type: 杂志文章,评审

    doi:10.1007/s11882-004-0025-1

    authors: Jones NS

    更新日期:2004-05-01 00:00:00

  • The role of T cells in drug reaction.

    abstract::T cells are major protagonists of immune-mediated adverse drug eruptions. Immunohistochemical observation as well as isolation and functional characterization of T cells infiltrating the affected tissues provided new insights into the pathomechanisms of the diverse clinical manifestations of drug hypersensitivity, and...

    journal_title:Current allergy and asthma reports

    pub_type: 杂志文章,评审

    doi:10.1007/s11882-006-0005-8

    authors: Cavani A,De Pità O

    更新日期:2006-02-01 00:00:00

  • Consequences of a mutation in the UNC119 gene for T cell function in idiopathic CD4 lymphopenia.

    abstract::The activation of a T cell through T cell receptor (TCR) is fundamental to adaptive immune responses. The lymphocyte specific kinase (LCK) plays a central role in the initiation of signaling from the TCR. TCR activates LCK through the adaptor protein uncoordinated 119 (UNC119). A mutation of human UNC119 impairs LCK a...

    journal_title:Current allergy and asthma reports

    pub_type: 杂志文章,评审

    doi:10.1007/s11882-012-0281-4

    authors: Gorska MM,Alam R

    更新日期:2012-10-01 00:00:00

  • Perioperative anaphylaxis: what should be known?

    abstract::Perioperative anaphylaxis is a unique condition as a result of the additive cardiovascular effects of anesthetics on the cardiovascular disturbances of anaphylaxis. It occurs mainly in adulthood, primarily follows anesthetic induction, and for the most part, is an IgE-mediated pathomechanism. Neuromuscular blocking ag...

    journal_title:Current allergy and asthma reports

    pub_type: 杂志文章,评审

    doi:10.1007/s11882-015-0522-4

    authors: Dewachter P,Mouton-Faivre C,Hepner DL

    更新日期:2015-05-01 00:00:00

  • Immune dysregulation in atopic dermatitis.

    abstract::Atopic dermatitis is a chronic inflammatory skin disease that causes significant morbidity in affected individuals. It is characterized by dysregulated immune responses that consist of an increased systemic Th2 response and a combination of Th2 and Th1 responses in the skin lesions. In this article, we review factors ...

    journal_title:Current allergy and asthma reports

    pub_type: 杂志文章,评审

    doi:10.1007/s11882-996-0008-5

    authors: Ong PY,Leung DY

    更新日期:2006-09-01 00:00:00

  • Development of an asthma disease management program in a children's hospital.

    abstract::The incidence, morbidity, and mortality of asthma have been increasing at an alarming rate, making asthma the most common chronic illness of childhood. An asthma disease management program was developed to improve the care and management of patients with asthma--a comprehensive health care delivery model that was desi...

    journal_title:Current allergy and asthma reports

    pub_type: 杂志文章

    doi:10.1007/s11882-003-0060-3

    authors: Miller K,Ward-Smith P,Cox K,Jones EM,Portnoy JM

    更新日期:2003-11-01 00:00:00

  • New approaches to modulating idiopathic pulmonary fibrosis.

    abstract::Until recently, idiopathic pulmonary fibrosis (IPF) has been a devastating and generally fatal disease with no effective therapeutic. New developments in understanding the biology of the disease include a growing consensus that the lesions are mainly composed of cells that originated from resident fibroblasts. New dev...

    journal_title:Current allergy and asthma reports

    pub_type: 杂志文章,评审

    doi:10.1007/s11882-013-0377-5

    authors: Gomer RH

    更新日期:2013-12-01 00:00:00

  • Food allergy and quality of life: what have we learned?

    abstract::Health-related quality of life (HRQL) has become an emerging focus of interest in food allergy. Food allergy is a disease characterized by low mortality and symptoms which only occur during an allergic reaction. However, food-allergic patients continuously need to be alert when eating in order to prevent potentially s...

    journal_title:Current allergy and asthma reports

    pub_type: 杂志文章,评审

    doi:10.1007/s11882-013-0391-7

    authors: van der Velde JL,Dubois AE,Flokstra-de Blok BM

    更新日期:2013-12-01 00:00:00

  • Hidden Causes of Anaphylaxis.

    abstract:PURPOSE OF REVIEW:This study aimed to review important hidden causes of anaphylaxis in ingestants, non-ingestants, and uncommon settings. RECENT FINDINGS:Multiple new and elusive causes of anaphylaxis have been described over the past 35 years. Further research is required to identify the epidemiology, pathophysiology...

    journal_title:Current allergy and asthma reports

    pub_type: 杂志文章,评审

    doi:10.1007/s11882-017-0713-2

    authors: Nanagas VC,Baldwin JL,Karamched KR

    更新日期:2017-07-01 00:00:00

  • Oral Food Challenges: The Design must Reflect the Clinical Question.

    abstract::Oral food challenges are the gold-standard diagnostic investigation for diagnosing food allergy. They allow a subject to consume an age-appropriate portion of allergenic food under surveillance to assess whether a reproducible immune-mediated adverse response is demonstrated. The specific design of food challenge must...

    journal_title:Current allergy and asthma reports

    pub_type: 杂志文章,评审

    doi:10.1007/s11882-015-0549-6

    authors: Feeney M,Marrs T,Lack G,Du Toit G

    更新日期:2015-08-01 00:00:00

  • Environmental contributions to allergic disease.

    abstract::The environment is a major contributor to allergic disease, and great effort is being expended to identify the chemical pollutants and allergens that make a significant impact. Exposure to high levels of ozone, sulfur dioxide, nitrogen dioxide, and diesel exhaust particles is known to reduce lung function. Studies con...

    journal_title:Current allergy and asthma reports

    pub_type: 杂志文章,评审

    doi:10.1007/s11882-001-0059-6

    authors: Levetin E,Van de Water P

    更新日期:2001-11-01 00:00:00

  • Relationship between pediatric obesity and otitis media with effusion.

    abstract::Although eustachian tube dysfunction and bacterial infection have been shown to cause otitis media with effusion (OME), other etiologies are possible. One of the most common medical conditions in children is obesity, which can have effects throughout the body. Little is known, however, about the relationship between o...

    journal_title:Current allergy and asthma reports

    pub_type: 杂志文章,评审

    doi:10.1007/s11882-009-0069-3

    authors: Lee SK,Yeo SG

    更新日期:2009-11-01 00:00:00

  • Autoimmune lymphoproliferative syndrome: an update and review of the literature.

    abstract::Autoimmune lymphoproliferative syndrome (ALPS) is characterized by immune dysregulation due to a defect in lymphocyte apoptosis. The clinical manifestations may be noted in multiple family members and include lymphadenopathy, splenomegaly, increased risk of lymphoma, and autoimmune disease, which typically involves he...

    journal_title:Current allergy and asthma reports

    pub_type: 杂志文章,评审

    doi:10.1007/s11882-014-0462-4

    authors: Shah S,Wu E,Rao VK,Tarrant TK

    更新日期:2014-09-01 00:00:00

  • The spectrum of multiple sclerosis.

    abstract::Multiple sclerosis (MS) is the most common cause of chronic neurologic disability in young people. Genetic susceptibility and unidentified environmental triggers appear to be necessary in order to result in disease. MS is an extraordinarily complex trait with evidence of heterogeneity at clinical, pathologic, and ther...

    journal_title:Current allergy and asthma reports

    pub_type: 杂志文章,评审

    doi:10.1007/s11882-007-0042-y

    authors: Heard RN

    更新日期:2007-07-01 00:00:00

  • Non-IgE-mediated Adverse Food Reactions.

    abstract:PURPOSE OF REVIEW:The purpose of this review is to update what is currently known about the major non-IgE-mediated food allergies: food protein-induced enterocolitis syndrome (FPIES), food protein-induced allergic proctocolitis (FPIAP), and food protein-induced enteropathy (FPE). These conditions are similar in that sy...

    journal_title:Current allergy and asthma reports

    pub_type: 杂志文章,评审

    doi:10.1007/s11882-017-0744-8

    authors: Leonard SA

    更新日期:2017-11-14 00:00:00

  • Microbes and the Role of Antibiotic Treatment for Wheezy Lower Respiratory Tract Illnesses in Preschool Children.

    abstract:PURPOSE OF REVIEW:Antibiotics are commonly used to treat wheezy lower respiratory tract illnesses in preschoolers, although these infections have been traditionally thought to be predominantly of viral origin. Our purpose is to review recent research pertaining to the role of antibiotics in lower respiratory tract illn...

    journal_title:Current allergy and asthma reports

    pub_type: 杂志文章,评审

    doi:10.1007/s11882-017-0701-6

    authors: Kwong CG,Bacharier LB

    更新日期:2017-05-01 00:00:00

  • Administering a Telemedicine Program.

    abstract:PURPOSE OF REVIEW:The purpose of this review is to describe the process of administering a telemedicine program including reviewing telemedicine guidelines; discussing licensing, credentialing, and privileging of providers; outlining scheduling and recruitment of patients; and measuring outcomes of a telemedicine progr...

    journal_title:Current allergy and asthma reports

    pub_type: 杂志文章,评审

    doi:10.1007/s11882-018-0812-8

    authors: Taylor L,Capling H,Portnoy JM

    更新日期:2018-09-15 00:00:00

  • Steroid resistance in asthma: mechanisms and treatment options.

    abstract::Glucocorticoid insensitivity presents a profound management problem in patients with asthma because conventional therapies are not effective. Glucocorticoids, acting through the glucocorticoid receptor (GR), are able to selectively repress inflammatory gene expression by utilizing several distinct mechanisms targeting...

    journal_title:Current allergy and asthma reports

    pub_type: 杂志文章,评审

    doi:10.1007/s11882-008-0028-4

    authors: Adcock IM,Ford PA,Bhavsar P,Ahmad T,Chung KF

    更新日期:2008-04-01 00:00:00

  • New and Potential Treatments for Atopic Dermatitis: Biologicals and Small Molecules.

    abstract:PURPOSE OF REVIEW:An update on new therapies currently approved or potentially useful in the future for the management of patients suffering moderate-to-severe atopic dermatitis. RECENT FINDINGS:New pathogenic mechanisms involved in atopic dermatitis have permitted to propose novel therapeutic approaches devised to co...

    journal_title:Current allergy and asthma reports

    pub_type: 杂志文章,评审

    doi:10.1007/s11882-019-0849-3

    authors: Sánchez-Borges M,Capriles-Hulett A,Ortega-Martell JA,Zubeldia IA

    更新日期:2019-02-28 00:00:00

  • Review of Physical Urticarias and Testing Methods.

    abstract:PURPOSE OF REVIEW:This review aims to update the information available on the prevalence, clinical picture, diagnostic methods, and treatment of urticarias induced by external physical stimuli. RECENT FINDINGS:Physical urticarias are present in up to 5% of the general population, and in 10 to 50% of patients with chro...

    journal_title:Current allergy and asthma reports

    pub_type: 杂志文章,评审

    doi:10.1007/s11882-017-0722-1

    authors: Sánchez-Borges M,González-Aveledo L,Caballero-Fonseca F,Capriles-Hulett A

    更新日期:2017-08-01 00:00:00

  • The role of regulatory T cells in respiratory infections and allergy and asthma.

    abstract::The role of distinct CD4(+) T-cell populations in regulating the nature and strength of immune responses is well documented and in the past has principally focused on the cross-regulation of T-helper type 1 (Th1) and Th2 cells, which secrete interferon-gamma and interleukin-4, respectively. However, the identification...

    journal_title:Current allergy and asthma reports

    pub_type: 杂志文章,评审

    doi:10.1007/s11882-009-0078-2

    authors: McGuirk P,Higgins SC,Mills KH

    更新日期:2010-01-01 00:00:00

  • Utility of next generation sequencing in clinical primary immunodeficiencies.

    abstract::Primary immunodeficiencies (PIDs) are a group of genetically heterogeneous disorders that present with very similar symptoms, complicating definitive diagnosis. More than 240 genes have hitherto been associated with PIDs, of which more than 30 have been identified in the last 3 years. Next generation sequencing (NGS) ...

    journal_title:Current allergy and asthma reports

    pub_type: 杂志文章

    doi:10.1007/s11882-014-0468-y

    authors: Raje N,Soden S,Swanson D,Ciaccio CE,Kingsmore SF,Dinwiddie DL

    更新日期:2014-10-01 00:00:00