Presentation is loading. Please wait.

Presentation is loading. Please wait.

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

PublishMartina Geerts Modified over 5 years ago

Similar presentations

Presentation on theme: "Mei W. Baker, MD, William J. Grossman, MD, PhD, Ronald H"— Presentation transcript:

1 Development of a routine newborn screening protocol for severe combined immunodeficiency 
Mei W. Baker, MD, William J. Grossman, MD, PhD, Ronald H. Laessig, PhD, Gary L. Hoffman, BS, Charles D. Brokopp, DrPH, Daniel F. Kurtycz, MD, Michael F. Cogley, BS, Thomas J. Litsheim, BS, Murray L. Katcher, MD, PhD, John M. Routes, MD  Journal of Allergy and Clinical Immunology  Volume 124, Issue 3, Pages (September 2009) DOI: /j.jaci Copyright © 2009 American Academy of Allergy, Asthma & Immunology Terms and Conditions

2 Fig 1 Representative RT-qPCR TREC assay on DNA samples from a 3.2-mm DBS. A, Arrows indicate some of 10-fold diluted plasmid standards ranging 1,000,000 to 10 copies of TRECs. B, A standard curve of serially diluted plasmids containing a known copy number of TRECs (solid squares) and 82 unknown samples (crosses). A 100-copy TRECs standard is embedded with unknown DBS samples. Journal of Allergy and Clinical Immunology  , DOI: ( /j.jaci ) Copyright © 2009 American Academy of Allergy, Asthma & Immunology Terms and Conditions

3 Fig 2 Results of initial RT-qPCR TREC assay on 5766 NBS cards. A, TREC copy number distribution in 5766 deidentified 3.2-mm DBSs. The mean is 827, and the median is 708. B, The number of samples with a TREC copy number ≤150 per 3.2-mm DBS. Sixty-one samples (1% of the total) have less than 75 TRECs per 3.2-mm DBS. Journal of Allergy and Clinical Immunology  , DOI: ( /j.jaci ) Copyright © 2009 American Academy of Allergy, Asthma & Immunology Terms and Conditions

4 Fig 3 TREC determination from DBS with varying CD45RA:CD45RO ratios. Pure populations (>90%) of naive (CD45RAbright) and memory (CD45RObright) T cells were obtained from peripheral blood by cell sorting, mixed at varying ratios, and spotted on newborn screening cards for TREC analysis (see Methods). The data presented are the average TREC ± SEM (each ratio cohort represents 4-8 individual TREC analyses). Journal of Allergy and Clinical Immunology  , DOI: ( /j.jaci ) Copyright © 2009 American Academy of Allergy, Asthma & Immunology Terms and Conditions

5 Fig 4 Reproducibility of the TREC assay. The slopes of the standard curves observed from 75 consecutive TREC assay runs. The range of the slopes at –3.52 ± 0.14 indicates consistent amplification efficiency. Journal of Allergy and Clinical Immunology  , DOI: ( /j.jaci ) Copyright © 2009 American Academy of Allergy, Asthma & Immunology Terms and Conditions

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

Similar presentations

Buffering airway acid decreases exhaled nitric oxide in asthma Benjamin Gaston, MD, Robin Kelly, RN, Peter Urban, RN, Lei Liu, PhD, Edward M. Henderson,

Buffering airway acid decreases exhaled nitric oxide in asthma Benjamin Gaston, MD, Robin Kelly, RN, Peter Urban, RN, Lei Liu, PhD, Edward M. Henderson,
Control of immunopathology during chikungunya virus infection Caroline Petitdemange, PhD, Nadia Wauquier, PhD, Vincent Vieillard, PhD Journal of Allergy.

Control of immunopathology during chikungunya virus infection Caroline Petitdemange, PhD, Nadia Wauquier, PhD, Vincent Vieillard, PhD Journal of Allergy.
Tetanus immunity after diphtheria, tetanus toxoids, and acellular pertussis vaccination in children with clinically stable HIV infection  Howard M. Rosenblatt,

Tetanus immunity after diphtheria, tetanus toxoids, and acellular pertussis vaccination in children with clinically stable HIV infection  Howard M. Rosenblatt,
Allergen immunotherapy: A practice parameter third update

Allergen immunotherapy: A practice parameter third update
Clarification concerning amoxicillin skin testing

Clarification concerning amoxicillin skin testing
Thymic function in MHC class II–deficient patients

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,

Newborn screening for severe combined immunodeficiency and T-cell lymphopenia in California: Results of the first 2 years  Antonia Kwan, PhD, MRCPCH,
High-titer IgE antibody specific for pollen allergens in northern California is associated with both wheezing and total serum IgE  Elizabeth A. Erwin,

High-titer IgE antibody specific for pollen allergens in northern California is associated with both wheezing and total serum IgE  Elizabeth A. Erwin,
Fatty acids, inflammation, and asthma

Fatty acids, inflammation, and asthma
Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: The winner is T-cell receptor excision circles 

Laboratory technology for population-based screening for severe combined immunodeficiency in neonates: The winner is T-cell receptor excision circles 
Santa Jeremy Ono, BA, PhD, Mark B. Abelson, MD 

Santa Jeremy Ono, BA, PhD, Mark B. Abelson, MD 
Major rabbit allergen Ory c 3: What could be its possible role as a sensitizing agent in real life?  Gennaro Liccardi, MD, Antonello Salzillo, MD, Maria.

Major rabbit allergen Ory c 3: What could be its possible role as a sensitizing agent in real life?  Gennaro Liccardi, MD, Antonello Salzillo, MD, Maria.
Combined newborn screening for familial hemophagocytic lymphohistiocytosis and severe T- and B-cell immunodeficiencies  Stephan Borte, MD, Marie Meeths,

Combined newborn screening for familial hemophagocytic lymphohistiocytosis and severe T- and B-cell immunodeficiencies  Stephan Borte, MD, Marie Meeths,
Dorothy M. Ryan, MD, Stephen J. Fowler, MD, Robert M. Niven, MD 

Dorothy M. Ryan, MD, Stephen J. Fowler, MD, Robert M. Niven, MD 
Is 9 more than 2 also in allergic airway inflammation?

Is 9 more than 2 also in allergic airway inflammation?
Desensitization to Chemotherapeutic Agents

Desensitization to Chemotherapeutic Agents
Fatty acids, inflammation, and asthma

Fatty acids, inflammation, and asthma
Joe K. Gerald, MD, PhD, Roni Grad, MD, William C. Bailey, MD, Lynn B

Joe K. Gerald, MD, PhD, Roni Grad, MD, William C. Bailey, MD, Lynn B
Robert G. Hamilton, PhD, John Oppenheimer, MD 

Robert G. Hamilton, PhD, John Oppenheimer, MD 
Rising prevalence of asthma is sex-specific in a US farming population

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

Similar presentations

Ads by Google