Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: The winner is T-cell receptor excision circles

Slides:

Advertisements

Similar presentations

Control of immunopathology during chikungunya virus infection Caroline Petitdemange, PhD, Nadia Wauquier, PhD, Vincent Vieillard, PhD Journal of Allergy.

Advertisements

Clinical Laboratory Analysis of Immunoglobulin Heavy Chain Variable Region Genes for Chronic Lymphocytic Leukemia Prognosis Philippe Szankasi, David.

D-dimer: A biomarker for antihistamine-resistant chronic urticaria

What drives prescription patterns in pediatric asthma management?

Allergen immunotherapy: A practice parameter third update

Thymic function in MHC class II–deficient patients

Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: Results of the first 2 years Antonia Kwan, PhD, MRCPCH,

Fatty acids, inflammation, and asthma

A Droplet Digital PCR Method for Severe Combined Immunodeficiency Newborn Screening Noemi Vidal-Folch, Dragana Milosevic, Ramanath Majumdar, Dimitar.

Santa Jeremy Ono, BA, PhD, Mark B. Abelson, MD

Combined newborn screening for familial hemophagocytic lymphohistiocytosis and severe T- and B-cell immunodeficiencies Stephan Borte, MD, Marie Meeths,

Dennis K. Ledford, MD, Sally Wenzel, MD

David A. Khan, MD Journal of Allergy and Clinical Immunology

Long-term immune reconstitution after matched unrelated hematopoietic stem cell transplantation for immunodeficiency Vy Hong-Diep Kim, MD, Brenda Reid,

Dorothy M. Ryan, MD, Stephen J. Fowler, MD, Robert M. Niven, MD

Is 9 more than 2 also in allergic airway inflammation?

Desensitization to Chemotherapeutic Agents

Fatty acids, inflammation, and asthma

An Infant with Atopic Dermatitis and Itching After Ingestion of Milk

Long-term immune reconstitution and clinical outcome after stem cell transplantation for severe T-cell immunodeficiency Evelina Mazzolari, MD, Concetta.

Rising prevalence of asthma is sex-specific in a US farming population

Lieuwe D. Bos, MSc, PhD, Peter J. Sterk, MD, PhD, Stephen J

Clinical Laboratory Analysis of Immunoglobulin Heavy Chain Variable Region Genes for Chronic Lymphocytic Leukemia Prognosis Philippe Szankasi, David.

Furry pets modulate gut microbiota composition in infants at risk for allergic disease Merja Nermes, MD, PhD, Akihito Endo, PhD, Jasmin Aarnio, BM, Seppo.

Peter M. Wolfgram, MD, David B. Allen, MD

Practice Notes from the AAAAI

Jewlya Lynn, PhD, Sophie Oppenheimer, MS, MPH, Lorena Zimmer, MA

Jon Genuneit, MD, MSc Journal of Allergy and Clinical Immunology

Phillip Lieberman, MD, Michael Tankersley, MD

Time for a paradigm shift in asthma treatment: From relieving bronchospasm to controlling systemic inflammation Leif Bjermer, MD Journal of Allergy.

Food allergy in patients with primary immunodeficiency diseases: Prevalence within the US Immunodeficiency Network (USIDNET) Karen S. Tuano, MD, Jordan.

News & Notes Journal of Allergy and Clinical Immunology

Phillip Lieberman, MD, David Golden, MD

Ovalbumin content of influenza vaccines

Food allergy: A review and update on epidemiology, pathogenesis, diagnosis, prevention, and management Scott H. Sicherer, MD, Hugh A. Sampson, MD Journal.

Biosimilars and drug development in allergic and immunologic diseases

Update on the role of prostaglandins in allergic lung inflammation: Separating friends from foes, harder than you might think Martin L. Moore, PhD, R.

William T. Shearer, MD, PhD, Alain Fischer, MD, PhD

What is an “eosinophilic phenotype” of asthma?

Cephalosporin Side Chain Cross-reactivity

Mei W. Baker, MD, William J. Grossman, MD, PhD, Ronald H

Granulomatous-lymphocytic Interstitial Lung Disease in a Patient with Common Variable Immunodeficiency Phil Lieberman, MD, John Routes, MD The Journal.

H. William Kelly, PharmD Journal of Allergy and Clinical Immunology

Personalized asthma therapy in blacks—the role of genetic ancestry

Cockroach allergens: Coping with challenging complexity

Autophagy: Nobel Prize 2016 and allergy and asthma research

IL-2– and CD25-dependent immunoregulatory mechanisms in the homeostasis of T-cell subsets Sven Létourneau, DPhil, Carsten Krieg, PhD, Giuseppe Pantaleo,

News & Notes Journal of Allergy and Clinical Immunology

Food allergy: Epidemiology, pathogenesis, diagnosis, and treatment

Advances in the approach to the patient with food allergy

Impact of Down syndrome on the performance of neonatal screening assays for severe primary immunodeficiency diseases Ruud H.J. Verstegen, MD, Stephan.

Mary F. Linehan, PhD, Timothy L. Frank, MD, Michelle L

New pathways for itching in patients with atopic dermatitis?

Prevention of food allergy: Beyond peanut

Cagri Yildirim-Toruner, MD, Betty Diamond, MD

Eosinophilic esophagitis treated with immunotherapy to dust mites

Practice Notes from the AAAI

Measles and immunomodulation

The Editors' Choice Journal of Allergy and Clinical Immunology

CD25 deficiency causes an immune dysregulation, polyendocrinopathy, enteropathy, X- linked–like syndrome, and defective IL-10 expression from CD4 lymphocytes

Methicillin-susceptible Staphylococcus aureus brain abscess in common variable immunodeficiency after an 8-month gap in return to the immunologist Niraj.

Macrolide antibiotics and asthma treatment

Asthma: The past, future, environment, and costs

Environmental factors and eosinophilic esophagitis

News & Notes Journal of Allergy and Clinical Immunology

The use of serum-specific IgE measurements for the diagnosis of peanut, tree nut, and seed allergy Jennifer M. Maloney, MD, Magnus Rudengren, BSc, Staffan.

Advances in pediatric asthma in 2007

Natural history of cow’s milk allergy

Treatment of infants identified as having severe combined immunodeficiency by means of newborn screening Morna J. Dorsey, MD, MMSc, Christopher C. Dvorak,

Primary prevention of asthma and allergy

Presentation transcript:

Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: The winner is T-cell receptor excision circles Jennifer M. Puck, MD Journal of Allergy and Clinical Immunology Volume 129, Issue 3, Pages 607-616 (March 2012) DOI: 10.1016/j.jaci.2012.01.032 Copyright © 2012 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 1 Generation of the δRec-ψJα TRECs. The germline configuration of the TCRA locus, with TCRD embedded, is shown at the top of the illustration, which also shows the points (gray dots) at which the DNA is cut to excise the TCRD locus in T-lymphocyte progenitors destined to express the α and β TCRs. After excision (lower left) and ligation (lower right) of the δRec-ψJα fragment to form a TREC, PCR primers (horizontal arrows) can amplify a DNA junction fragment containing the joint. Journal of Allergy and Clinical Immunology 2012 129, 607-616DOI: (10.1016/j.jaci.2012.01.032) Copyright © 2012 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Fig 2 TREC (o) and actin (x) copy numbers measured in DNA isolated from 300 (A) anonymous DBSs obtained in newborn nurseries, showing one sample (far right) with failure of DNA amplification and 20 (B) newborn nursery DBSs recovered from storage from infants later found to have SCID. Journal of Allergy and Clinical Immunology 2012 129, 607-616DOI: (10.1016/j.jaci.2012.01.032) Copyright © 2012 American Academy of Allergy, Asthma & Immunology Terms and Conditions