December 7, 2018
RE: Screening for Severe Combined Immunodeficiency
Dear Newborn Screening Submitter:
As you may be aware, during the 2018 Regular Legislative Session, House Concurrent Resolution No. 19 requested that the Louisiana Department of Health (LDH) add Severe Combined Immunodeficiency (SCID) to the state’s Newborn Heel Stick Screening Panel. This letter is to notify you that the Office of Public Health (OPH) will begin testing for SCID as part of the LouisianaNewborn Heel Stick Screening Panel effective December 10, 2018. The addition of SCID to the screening panel was based on recommendations to the Recommended Uniform Screening Panel (RUSP) from the U.S. Department of Health and Human Services’ Advisory Committee on Heritable Disorders in Newborn and Children and the Louisiana Newborn Screening Advisory Committee. This is also pursuant to R.S. 40:1299.1(A)(1) and (3)Severe Combined Immunodeficiency (SCID) includes a group of rare but serious,and potentially fatal, inherited immune disorders in which T lymphocytes fail to develop and B lymphocytes are either absent or compromised. If undetected and untreated, SCID typically leads to death before the baby’s first birthday.Bone marrow hematopoietic cell transplantation may be curative, and outcomes are best if this is performed within the first 3 months of life or before infections occur.
Laboratory Testing Methodology for SCID
Screening for SCID will be conducted as part of the routine heel stick procedure for all newborns. No additional blood is required for this test. Newborn screening for T cell deficiencies is performed by measuring the quantities of DNA that are shed during T cell maturation. This DNA is found in T cell receptor excision circles (TRECS). The interpretation of T cell newborn screening is expressed as quantities of TRECS. A positive screen is interpreted as a low TREC results(<40 ng/dl).
Follow-Up on Positive Newborn Screens for SCID
The Newborn Screening Laboratory will notify the OPH Genetic Diseases Program follow-up staff of all positives creens. Medical providers will still be able to access the newborn screening results through the Secured Remote Viewer Web Based System (SRV). The follow-up staff will notify the primary care physicians of the results and assist with referral to a specialist. All patients with a low TREC result should be referred for flow cytometry. Medical experts in the field recommend this test as the most appropriate test to establish a definitive diagnosis after a positive newborn screening test. Below are pediatric immunologists in Louisiana who have expertise in treating infants with SCID.
Referral summary for confirmed low TREC results
- Initial Testing: Confirmatory testing: CBC with differential, Flowcytometry can be performed at local or commercial laboratories
- Advanced immunology evaluation: lymphocyte proliferation,identification of molecular
- abnormality is recommended to be done by Clinical immunologists.
Referral information for Centers and Clinical Immunologists
New Orleans/Baton Rouge/Covington/Lafayette
Jeffrey Modell Diagnostic Center (JMC) for Immunodeficiency at LSU Health Sciences Center New Orleans/Children’s Hospital. The JM Center has outreach clinics in Baton Rouge, Covington, and Lafayette. The JM Center team can be reached by calling 504-896-9589 during working hours. After hours, the team can be reached by calling 504-899-9511 requesting to talk to the LSU allergy/immunology fellow on call. For more information, visit the Jeffrey Modell Diagnostic Center for Primary Immunodeficiencis website at http://www.jmcnola.org or the Children’s Hospital Allergy & Immunology website at http://www.chnola.org/Allergy.
Referral summary for confirmed low TREC results
- Initial Testing: Confirmatory testing: CBC with differential, Flow cytometry can be performed at local or commercial laboratories
- Advanced immunology evaluation: lymphocyte proliferation, identification of molecular
abnormality is recommended to be done by Clinical immunologists.
Referral information for Centers and Clinical Immunologists
New Orleans/Baton Rouge/Covington/Lafayette
Jeffrey Modell Diagnostic Center (JMC) for Immunodeficiency at LSU Health Sciences Center New Orleans/Children’s Hospital. The JM Center has outreach clinics in Baton Rouge, Covington, and Lafayette. The JM Center team can be reached by calling 504-896-9589 during working hours. After hours, the team can be reached by calling 504-899-9511 requesting to talk to the LSU allergy/immunology fellow on call. For more information, visit the Jeffrey Modell Diagnostic Center for Primary Immunodeficiencis website at http://www.jmcnola.org or the Children’s Hospital Allergy & Immunology website at http://www.chnola.org/Allergy.
The JM Center staff includes:
Paris, Kenneth, MD, MPH
Jeffrey Modell Diagnostic Center
Associate Professor of Pediatrics
Department of Pediatrics
LSU Health Sciences Center at Children’s Hospital
ACC Suite 2022
200 Henry Clay Avenue
New Orleans, LA 70118
Phone: 504‐896‐9589
Fax: 504‐896‐9311
kparis@lsuhsc.edu
Clinic locations: New Orleans, Lafayette
Wall, Luke, MD
Jeffrey Modell Diagnostic Center
Assistant Professor of Pediatrics
Department of Pediatrics
LSU Health Sciences Center at Children’s Hospital
ACC Suite 2022
200 Henry Clay Ave
New Orleans, LA 70118
Phone: 504‐896‐9589
Fax: 504‐896‐9311
lwall@lsuhsc.edu
Clinic Locations: New Orleans, Baton Rouge, Covington
Wisner, Elizabeth, MD
Jeffrey Modell Diagnostic Center
Assistant Professor of Pediatrics
Department of Pediatrics
LSU Health Sciences Center at Children’s Hospital
200 Henry Clay Avenue
New Orleans, LA 70118
Phone: 504‐896‐9589
Fax: 504‐896‐9311
elind2@lsuhsc.edu
Clinic Locations: New Orleans, Metairie
Ochoa, Augusto, MD
Jeffrey Modell Diagnostic Center
Professor of Pediatrics
Department of Pediatrics
LSU Health Sciences Center at Children’s Hospital
200 Henry Clay Avenue
New Orleans, LA 70118
Phone: 504‐896‐9589
Fax: 504‐896‐9311
aochoa@lsuhsc.edu
Clinic Locations: New Orleans
New Orleans
Tulane University Department of Pediatrics
El-Dahr, Jane Maroney, MD
Section of Pediatric Immunology, Allergy and Rheumatology
Department of Pediatrics
Tulane University Medical School
1430 Tulane Avenue (SL‐75)
New Orleans, Louisiana 70112‐2699
jeldahr@tulane.edu
Carlson, John, MD
Section of Pediatric Immunology, Allergy and Rheumatology
Department of Pediatrics
Tulane University Medical School
1430 Tulane Avenue (SL‐75)
New Orleans, Louisiana 70112‐2699
jcarlson@tulane.edu
Shreveport
Bahna, Sami, MD, DrPH
Louisiana State University Health Sciences Center
Professor of Pediatrics & Medicine
Chief, Allergy/Immunology Section
1501 Kings Highway
Shreveport, LA 71130‐3832
Phone: 318‐675‐7625
Fax: 318‐675‐8815
Website: http://www.sh.lsuhsc.edu/allergyimmunology
Stem cell transplantation (bone marrow or cord blood) in Louisiana is available at Children’s Hospital in New Orleans through the hematology/oncology division and clinical immunologists at LSU Health Sciences Center. The Hematopoietic Stem Cell Transplant (HSCT) program is the only pediatric program recognized by COG as well as the National Marrow Donor program in Louisiana. The HSCT is affiliated with the Center for International Blood and Marrow Transplant Research (CIBMTR) , Pediatric Blood and Marrow Transplant Consortium, and the Primary Immunodeficiency Treatment Consortium (PIDTC).
For more information regarding testing for SCID or other newborn screening tests, please contact the Genetic Diseases Program at 504-568-8254 or visit the website at www.ldh.la.gov/genetics.