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Hot Topics of the Day are picked by experts to capture the latest information and publications on public health genomics and precision health for various diseases and health topics. Sources include published scientific literature, reviews, blogs and popular press articles.

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47 hot topic(s) found with the query "Severe combined immunodeficiency"

Newborn Screening for Severe Combined Immunodeficiency: Lessons Learned from Screening and Follow-Up of the Preterm Newborn Population
A Gaviglio et al, IJNS, December 2023 (Posted: Dec 18, 2023 8AM)

From the abstract: " Newborn screening (NBS) for Severe Combined Immunodeficiency (SCID) by measurement of T-cell receptor excision circles (TRECs) successfully identifies newborns with SCID and severe T-cell lymphopenia, as intended. At the same time, NBS programs face the challenge of false positive results, with a disproportionately high number in the premature newborn population. This study evaluates TREC values and SCID screening outcomes in premature newborns and elucidates evidence-based SCID screening practices that reduce unnecessary follow-up activities in this population."

Screening newborns for deadly immune disorder saves lives
NIH, July 2023 (Posted: Jul 14, 2023 1PM)

Newborn screening for severe combined immunodeficiency (SCID) led to prompt treatment before life-threatening infections occurred, boosting survival of children with the disorder. The findings could encourage more widespread screening of newborns around the world for this disease.

Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010–2018
S Singh et al, IJNS, April 2023 (Posted: Apr 09, 2023 8AM)

During 2010–2022, seven conditions were added to the RUSP: severe combined immunodeficiency (SCID) (2010), critical congenital heart disease (CCHD) (2011), glycogen storage disease, type II (Pompe) (2015), mucopolysaccharidosis, type I (MPS I) (2016), X-linked adrenoleukodystrophy (X-ALD) (2016), spinal muscular atrophy (SMA) (2018), and mucopolysaccharidosis, type II (MPS II) (2022). The adoption of SCID and CCHD newborn screening by programs in all 50 states and three territories (Washington, D.C.; Guam; and Puerto Rico) took 8.6 and 6.8 years, respectively.

Gene Therapy for Artemis-Deficient SCID
SY Pai, NEJM, December 22, 2022 (Posted: Dec 22, 2022 8AM)

Infants with severe combined immunodeficiency (SCID), a disease characterized by a failure of T-cell development, die of opportunistic infection unless treated. Standard allogeneic hematopoietic-cell transplantation has limitations due to immunologic differences between the patient and the donor. A recent study used an integrating viral vector to bring about gene “addition”. Gene addition takes advantage of the natural properties of certain types of viruses, including the lentiviruses, to integrate into the patient’s genome in a semirandom fashion.

Modelling the Cost-Effectiveness and Budget Impact of a Newborn Screening Program for Spinal Muscular Atrophy and Severe Combined Immunodeficiency
STF Shih et al, IJNS, July 20, 2022 (Posted: Jul 21, 2022 7AM)

Over a 60-year time horizon, screening every newborn in the population and treating diagnosed SCID by early hematopoietic stem cell transplantation and SMA by gene therapy, would result in 95 QALYs gained per 100,000 newborns, and result in cost savings of USD 8.6 million. Sensitivity analysis indicates 97% of simulated results are considered cost-effective against commonly used willingness-to-pay thresholds. The introduction of combined NBS for SCID and SMA is good value for money from the long-term clinical and economic perspectives, representing a cost saving to governments in the long-term, as well as improving and saving lives

Gene therapy helps children with immunodeficiency
O'Leary, Nature Medicine, June 10, 2021 (Posted: Jun 11, 2021 7AM)

Adenosine deaminase (ADA) deficiency is a rare, inherited disorder that leads to potentially life-threatening severe combined immunodeficiency (ADA-SCID). Enzyme-replacement therapy provides only limited benefit and patients ultimately require a stem-cell transplant. A lentivirus-based treatment restores immune function with minimal side effects in children with adenosine deaminase deficiency.

Newborn screening for severe combined immunodeficiency: clinical and cost-effectiveness approaches.
Boyarchuk Oksana et al. Polski merkuriusz lekarski : organ Polskiego Towarzystwa Lekarskiego 2021 49(289) 80-83 (Posted: Mar 16, 2021 10AM)

Newborn screening for SCID with T-cell receptor excision circle (TREC) and kappa-deleting recombination excision circle (KREC) assay for the identification of T- and B-lymphopenia has been implemented in a number of highly developed countries of the world. A number of studies proved the clinical and cost-effectiveness of screening for SCID by using TREC assay. However, both clinical benefits and economic costs for screening may vary depending on country and continent.

David Vetter was ‘the boy in the bubble.’ His short life provided insights into how the rare disorder SCID works.
E Blakemore, Washington Post, January 2020 (Posted: Feb 04, 2020 9AM)

David’s short life also provided insights into how SCID works. Better bone marrow screening now means more transplants are successful. According to the Immune Deficiency Foundation, 91 percent of infants who are diagnosed early and given transplants by age 3½ months survive

Where are you in your SCID journey?
Immune Deficiency Foundation, SCID Compass, 2019 (Posted: Dec 11, 2019 7AM)

Wherever you are on your journey with Severe Combined Immune Deficiency (SCID), use the links below to find the information and support you need.

Cost-effectiveness of newborn screening for severe combined immunodeficiency.
Van der Ploeg Catharina P B et al. European journal of pediatrics 2019 May 178(5) 721-729 (Posted: May 01, 2019 8AM)

Experimental gene therapy frees ‘bubble-boy’ babies from a life of isolation- Treatment restores immune-system function in young children with severe disorder.
H Ledford, Nature, April 17, 2019 (Posted: Apr 18, 2019 8AM)

Lentiviral Gene Therapy Combined with Low-Dose Busulfan in Infants with SCID-X1.
Mamcarz Ewelina et al. The New England journal of medicine 2019 Apr (16) 1525-1534 (Posted: Apr 18, 2019 8AM)

Gene therapy restores immunity in infants with rare immunodeficiency disease
NIH News, April 17, 2019 Brand (Posted: Apr 18, 2019 8AM)

Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 2010–2017
G Amatuni et al, Pediatrics, January 25, 2019 (Posted: Jan 26, 2019 0PM)

Newborn Screening for Severe Combined Immunodeficiency in the United States: Lessons Learned.
Dorsey Morna J et al. Immunology and allergy clinics of North America 2019 Feb 39(1) 1-11 (Posted: Nov 28, 2018 8AM)

SCID Newborn Screening Campaign
IDF, 2018 (Posted: Jun 05, 2018 1PM)

Newborn screening for severe combined immunodeficiency: a primer for clinicians.
Biggs Catherine M et al. CMAJ : Canadian Medical Association journal = journal de l'Association medicale canadienne 2017 Dec (50) E1551-E1557 (Posted: Dec 22, 2017 10AM)

A Practical Guide to Implementing Population Newborn Screening (NBS) for Severe Combined Immunodeficiency (SCID)
HB Gaspar, Int. J. Neonatal Screen. 2017, 3(4), 29; (Posted: Nov 12, 2017 0PM)

Gene Therapy Approaches to Immunodeficiency.
Ghosh Sujal et al. Hematology/oncology clinics of North America 2017 Oct (5) 823-834 (Posted: Oct 24, 2017 11AM)

Severe Combined Immunodeficiency (SCID): CDC Laboratory Activities and State Funding
Brand (Posted: Oct 24, 2017 11AM)

Clinical, Laboratory and Molecular Findings of 63 Patients with Severe Combined Immunodeficiency: A Decade´s Experience.
Fazlollahi M R et al. Journal of investigational allergology & clinical immunology 2017 Mar 0 (Posted: Mar 08, 2017 8AM)

From a single genetic mutation, secrets of ‘boy in the bubble’ disease revealed
B Israel, Berkeley News, December 2016 (Posted: Dec 19, 2016 2PM)

Newborn screening for severe combined immunodeficiency using a novel and simplified method to measure T-cell excision circles (TREC).
Tagliaferri Laura et al. Clinical immunology (Orlando, Fla.) 2016 Dec (Posted: Dec 07, 2016 9AM)

Overview of 15-year severe combined immunodeficiency in the Netherlands: towards newborn blood spot screening.
de Pagter Anne P J et al. European journal of pediatrics 2015 Sep 174(9) 1183-8 (Posted: Nov 09, 2016 10AM)

Newborn screening for severe combined immune deficiency (SCID) saves lives and money: a cost-effective public health policy
S Grosse, Blog post, March 15, 2016 Brand (Posted: Mar 16, 2016 7AM)

Newborn screening for severe combined immune deficiency (technical and political aspects).
Kobrynski Lisa et al. Current opinion in allergy and clinical immunology 2015 Dec (6) 539-46 (Posted: Mar 14, 2016 6PM)

Gene Therapy for X-Linked Severe Combined Immunodeficiency: Where Do We Stand?
Cavazzana Marina et al. Human gene therapy 2016 Feb (2) 108-16 (Posted: Mar 14, 2016 6PM)

Severe combined immunodeficiency-an update.
Cirillo Emilia et al. Annals of the New York Academy of Sciences 2015 Jul (Posted: Nov 07, 2015 0PM)

Severe Combined Immunodeficiency Disorders.
Chinn Ivan K et al. Immunology and allergy clinics of North America 2015 Nov (4) 671-94 (Posted: Nov 07, 2015 0PM)

Severe combined immunodeficiencies and related disorders
A Fischer et al. Nature Reviews Disease Primers, November 2015 (Posted: Nov 07, 2015 0PM)

History and current status of newborn screening for severe combined immunodeficiency.
Kwan Antonia et al. Semin. Perinatol. 2015 Apr (3) 194-205 (Posted: Jun 22, 2015 11AM)

Higher prevalence of immune deficiency syndrome found in infants: study finds nearly twice as many newborns affected by severe combined immunodeficiency than previous research had estimated.
Levenson Deborah et al. Am. J. Med. Genet. A 2014 Dec (12) vii-viii (Posted: Apr 01, 2015 1PM)

Fiscal implications of newborn screening in the diagnosis of severe combined immunodeficiency.
Kubiak Catherine et al. J Allergy Clin Immunol Pract 2014 Nov-Dec (6) 697-702 (Posted: Apr 01, 2015 1PM)

Newborn blood spot screening test using multiplexed real-time PCR to simultaneously screen for spinal muscular atrophy and severe combined immunodeficiency.
Taylor Jennifer L et al. Clin. Chem. 2015 Feb (2) 412-9 (Posted: Apr 01, 2015 1PM)

Severe combined immunodeficiency: recent developments and guidance on clinical management.
Rivers Lizzy et al. Arch. Dis. Child. 2015 Jan 6. (Posted: Apr 01, 2015 1PM)

Incidence of severe combined immunodeficiency through newborn screening in a Chinese population.
Chien Yin-Hsiu et al. J. Formos. Med. Assoc. 2015 Jan (1) 12-6 (Posted: Apr 01, 2015 1PM)

Positive Family History, Infection, Low Absolute Lymphocyte Count (ALC), and Absent Thymic Shadow: Diagnostic Clues for All Molecular Forms of Severe Combined Immunodeficiency (SCID).
McWilliams Laurie M et al. J Allergy Clin Immunol Pract 2015 Mar 27. (Posted: Apr 01, 2015 1PM)

Hematopoietic Stem Cell Transplantation for Severe Combined Immunodeficiency.
Wahlstrom Justin T et al. Curr Pediatr Rep 2015 Mar 1. (1) 1-10 (Posted: Apr 01, 2015 1PM)

Vaccine-associated varicella and rubella infections in severe combined immunodeficiency with isolated CD4 lymphocytopenia and mutations in IL7R detected by tandem whole exome sequencing and chromosomal microarray.
Bayer D K et al. Clin. Exp. Immunol. 2014 Dec (3) 459-69 (Posted: Mar 05, 2015 0PM)

Newborn Screening: Severe Combined Immunodeficiency (SCID)
Brand (Posted: Feb 25, 2015 0PM)

Lymphocytopenia
From NHLBI health topic site Brand (Posted: Jan 01, 2014 0AM)

Also known as Lymphopenia Lymphocytopenia (LIM-fo-si-to-PE-ne-ah) is a disorder in which your blood doesn&rsquo;t have enough white blood cells called lymphocytes (LIM-fo-sites).</p><p>These cells are made in the bone marrow along with other kinds of blood cells. Lymphocytes help protect your body from infection. Low numbers of lymphocytes can raise your risk of infection. Lymphocytopenia also is called lymphopenia. Overview About 20 to 40 percent of all white blood cells are lymphocytes. A normal lymphocyte count for adults usually is between 1,000 and 4,800 lymphocytes per microliter of blood. For children, a normal lymphocyte count usually is between 3,000 and 9,500 lymphocytes per microliter of blood. The term "lymphocytopenia" refers to a count of less than 1,000 lymphocytes per microliter of blood in adults, or less than 3,000 lymphocytes per microliter of blood in children. The three types of lymphocytes are B lymphocytes, T lymphocytes, and natural killer cells. All of these cells help protect the body from infection. Most people who have lymphocytopenia have low numbers of T lymphocytes. Sometimes they also have low numbers of the other types of lymphocytes. Certain factors can cause a low lymphocyte count, such as: The body doesn't make enough lymphocytes. The body makes enough lymphocytes, but they're destroyed. The lymphocytes get trapped in the spleen or lymph nodes. Lymphocytes normally pass through these organs into the blood. A combination of the above factors. Many diseases, conditions, and factors can cause the above problems that lead to lymphocytopenia. These causes can be acquired or inherited. "Acquired" means you aren't born with the condition, but you develop it. One of the most common acquired causes of lymphocytopenia is AIDS. "Inherited" means your parents passed the gene for the condition on to you. Inherited causes include DiGeorge anomaly, Wiskott-Aldrich syndrome, severe combined immunodeficiency syndrome, and ataxia-telangiectasia. These inherited conditions are rare. Outlook Lymphocytopenia can range from mild to severe. The condition alone may not cause any signs, symptoms, or serious problems. How long lymphocytopenia lasts depends on its cause. The treatment for this condition depends on its cause and severity. Mild lymphocytopenia may not require treatment. If an underlying condition is successfully treated, lymphocytopenia will likely improve. If lymphocytopenia causes serious infections, you may need medicines or other treatments.

Achondroplasia and severe combined immunodeficiency
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

X-linked severe combined immunodeficiency
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Severe combined immunodeficiency
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Severe combined immunodeficiency, atypical
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Severe combined immunodeficiency with sensitivity to ionizing radiation
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)

Severe combined immunodeficiency due to complete RAG1/2 deficiency
From NCATS Genetic and Rare Diseases Information Center Brand (Posted: Jan 01, 2011 0AM)


Disclaimer: Articles listed in Hot Topics of the Day are selected by Public Health Genomics Branch to provide current awareness of the scientific literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the Clips, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
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