Archive
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.
Sign up MyPHGKB to receive the daily hot topic email alert.
Archived Hot Topics of the Day By Date
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)
Inborn errors of immunity: an expanding universe of disease and genetic architecture.
Yemsratch T Akalu et al. Nat Rev Genet 2023 10
(Posted: Oct 23, 2023 7PM)
Screening newborns for deadly immune disorder saves lives
NIH, July 2023
(Posted: Jul 14, 2023 1PM)
Severity Outcomes among Adult Patients with Primary Immunodeficiency and COVID-19 Seen in Emergency Departments, United States, April 2020–August 2021
CDC Visual Abstracts, June 2023
(Posted: Jun 09, 2023 8AM)
Severity Outcomes among Adult Patients with Primary Immunodeficiency and COVID-19 Seen in Emergency Departments, United States, April 2020–August 2021
E Drzymalla et al, JCM, May 17, 2023
(Posted: May 17, 2023 11AM)
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)
Rare Primary Immunodeficiency Diseases and COVID-19: Evolving Insights and Implications for Clinical and Public Health Practice
E Drzymalla et al, CDC Blog Post, March 27, 2023
(Posted: Mar 27, 2023 9AM)
Evaluation and pilot testing of a multidisciplinary model of care to mainstream genomic testing for paediatric inborn errors of immunity
T Yanes et al, EJHG, March 3, 2023
(Posted: Mar 03, 2023 9AM)
Gene Therapy for Artemis-Deficient SCID
SY Pai, NEJM, December 22, 2022
(Posted: Dec 22, 2022 8AM)
COVID-19-related health outcomes in people with primary immunodeficiency: A systematic review.
Drzymalla Emily et al. Clinical immunology (Orlando, Fla.) 2022 8 109097
(Posted: Aug 22, 2022 6AM)
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)
The clinical progress of mRNA vaccines and immunotherapies
AJ Barbier et al, Nature Biotechnology, May 9, 2022
(Posted: May 09, 2022 11AM)
HIV variant causes concern
K O'Leary, Nature Medicine, February 14, 2022
(Posted: Feb 16, 2022 2PM)
mRNA vaccines offer hope for HIV
L Morris, Nature Medicine, December 9, 2021
(Posted: Dec 11, 2021 8AM)
Gene therapy helps children with immunodeficiency
O'Leary, Nature Medicine, June 10, 2021
(Posted: Jun 11, 2021 7AM)
Efficacy of the ChAdOx1 nCoV-19 Covid-19 Vaccine against the B.1.351 Variant.
Madhi Shabir A et al. The New England journal of medicine 2021 3 (20) 1885-1898
(Posted: May 20, 2021 7AM)
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)
Next Generation Sequencing to Diagnose Primary Immunodeficiency
A Kantipuli et al, CDC blog post, January 22, 2021
(Posted: Jan 23, 2021 7AM)
She Had Her Own Mutation, Sequencing Led to a Treatment and Major Genetic Discovery – Then She Died of COVID
R Lewis, PLOS Blogs, August 6, 2020
(Posted: Aug 11, 2020 7AM)
Overview of the current status of gene therapy for primary immune deficiencies
CY Ku, J Allergy Clin Immunol, August 2020
(Posted: Aug 06, 2020 7AM)
Jeffrey's insights: Jeffrey Modell Foundation's global genetic sequencing pilot program to identify specific primary immunodeficiency defects to optimize disease management and treatment.
Quinn Jessica et al. Immunologic research 2020 May
(Posted: Jun 01, 2020 1PM)
Primary Immunodeficiency (PI)
CDC, April 2020
(Posted: Apr 22, 2020 0PM)
Multiplexed Proteomic Analysis for Diagnosis and Screening of Five Primary Immunodeficiency Disorders From Dried Blood Spots.
Collins Christopher J et al. Frontiers in immunology 2020 11464
(Posted: Apr 22, 2020 9AM)
Bringing about change together
Primary Immunodeficiency Week, April 22-July 1, 2020
(Posted: Apr 16, 2020 8AM)
Primary immunodeficiency testing in a Massachusetts tertiary care NICU: persistent challenges in the extremely premature population.
Frazer Lauren C et al. Pediatric research 2020 Apr
(Posted: Apr 15, 2020 10AM)
Recent advances in understanding inherited deficiencies in immunity to infections
GM Constantine et al, F1000, April 7, 2020
(Posted: Apr 08, 2020 8AM)
For people with underlying health conditions, the coronavirus presents ‘all the ingredients’ for danger
A Joseph, Stat News, March 23, 2020
(Posted: Mar 23, 2020 8AM)
Genetic Screening of the Patients with Primary Immunodeficiency by Whole-
B Erman et al, Ped Allergy Immunol Pulm,February 2020
(Posted: Mar 03, 2020 8AM)
Newborn Screening for Primary Immunodeficiencies: The Gaps, Challenges, and Outlook for Developing Countries.
El-Sayed Zeinab A et al. Frontiers in immunology 2019 102987
(Posted: Feb 26, 2020 9AM)
Cost and impact of early diagnosis in primary immunodeficiency disease: A literature review.
Elsink Kim et al. Clinical immunology (Orlando, Fla.) 2020 Feb 108359
(Posted: Feb 12, 2020 10AM)
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)
Primary Immunodeficiencies Worldwide
Frontiers collection of articles, 2020
(Posted: Jan 23, 2020 11AM)
Where are you in your SCID journey?
Immune Deficiency Foundation, SCID Compass, 2019
(Posted: Dec 11, 2019 7AM)
Diagnosis of primary immunodeficiency diseases in the developing world: the need for education and networking with the developed world.
Villavicencio Maria Fernanda et al. Current opinion in pediatrics 2019 Sep
(Posted: Oct 02, 2019 8AM)
Diagnostic Interpretation of Genetic Studies in Patients with Primary Immunodeficiency Diseases: A Working Group Report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma, and Immunology.
Chinn Ivan K et al. The Journal of allergy and clinical immunology 2019 Sep
(Posted: Oct 02, 2019 8AM)
Prevalence of Immunodeficiency in Children With Invasive Pneumococcal Disease in the Pneumococcal Vaccine Era: A Systematic Review.
Butters Coen et al. JAMA pediatrics 2019 Sep
(Posted: Oct 01, 2019 8AM)
Hematopoietic Stem Cell Transplantation in Primary Immunodeficiency Diseases: Current Status and Future Perspectives.
Castagnoli Riccardo et al. Frontiers in pediatrics 2019 7295
(Posted: Aug 27, 2019 6PM)
Gene therapy for primary immunodeficiency.
Booth Claire et al. Human molecular genetics 2019 Jul
(Posted: Aug 05, 2019 8AM)
The Relationship between Cancer Predisposition and Primary Immunodeficiency
F Hauck et al, Front in Immunology, July 2019
(Posted: Jul 22, 2019 8AM)
Diagnostic Yield of Next Generation Sequencing in Genetically Undiagnosed Patients with Primary Immunodeficiencies: a Systematic Review.
Yska Hemmo A F et al. Journal of clinical immunology 2019 Jun
(Posted: Jul 02, 2019 9AM)
Jeffrey's Parents Did Something- Film recalls a son lost to primary immunodeficiency and the legacy built in his name.
D Moffit, CSL Behring, June 27, 2019
(Posted: Jun 28, 2019 8AM)
Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies.
Arts Peer et al. Genome medicine 2019 Jun (1) 38
(Posted: Jun 20, 2019 11AM)
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
(Posted: Apr 18, 2019 8AM)
Newborn Screening for Severe Combined Immunodeficiency and T-cell Lymphopenia in California, 20102017
G Amatuni et al, Pediatrics, January 25, 2019
(Posted: Jan 26, 2019 0PM)
Now Is the Time to Use Molecular Gene Testing for the Diagnosis of Primary Immune Deficiencies.
Heimall Jennifer et al. The journal of allergy and clinical immunology. In practice 2019 Jan
(Posted: Jan 23, 2019 2PM)
Genomics of Primary Immunodeficiency Disorders: It is scientifically important and it is personal
Mutation Watch, December 30, 2018
(Posted: Dec 30, 2018 4PM)
Genetic Testing to Diagnose Primary Immunodeficiency Disorders and to Identify Targeted Therapy.
Heimall Jennifer et al. Immunology and allergy clinics of North America 2019 Feb 39(1) 129-140
(Posted: Nov 28, 2018 8AM)
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)
Use of Genetic Testing for Primary Immunodeficiency Patients.
Heimall Jennifer R et al. Journal of clinical immunology 2018 Apr
(Posted: Apr 23, 2018 9AM)
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)
Pathogenesis of infections in HIV-infected individuals: insights from primary immunodeficiencies.
Zhang Qian et al. Current opinion in immunology 2017 Oct 122-133
(Posted: Oct 30, 2017 8AM)
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
(Posted: Oct 24, 2017 11AM)
Newborn screening for severe combined immune deficiency (SCID) saves lives and money: a cost-effective public health policy
SD Grosse, CDC Blog Post, 2016
(Posted: Aug 06, 2017 5AM)
Newborn Screening for Primary Immunodeficiency Diseases: The Past, the Present and the Future
J King et al, International Journal of Neonatal Screening 2017, 3(3), 19
(Posted: Aug 06, 2017 5AM)
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.
Stray-Pedersen Asbjørg et al. The Journal of allergy and clinical immunology 2017 Jan 139(1) 232-245
(Posted: Jul 26, 2017 9AM)
Utilization of genomic sequencing for population screening of immunodeficiencies in the newborn.
Pavey Ashleigh R et al. Genetics in medicine : official journal of the American College of Medical Genetics 2017 Jun
(Posted: Jun 21, 2017 8AM)
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)
Modeling strategy to identify patients with primary immunodeficiency utilizing risk management and outcome measurement.
Modell Vicki et al. Immunologic research 2017 Feb
(Posted: Mar 01, 2017 10AM)
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)
Newborn Screening for Severe Primary Immunodeficiency Diseases in Sweden-a 2-Year Pilot TREC and KREC Screening Study.
Barbaro Michela et al. Journal of clinical immunology 2016 Nov
(Posted: Nov 30, 2016 5PM)
Diagnostics of Primary Immunodeficiencies through Next-Generation Sequencing.
Gallo Vera et al. Frontiers in immunology 2016 7466
(Posted: Nov 30, 2016 11AM)
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
(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)
The effects of prenatal genetic analysis on fetuses born to carrier mothers with primary immunodeficiency diseases.
Lee Wen-I et al. Annals of medicine 2016 Feb 1-8
(Posted: Feb 10, 2016 9AM)
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)
Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-y immunity.
Bustamante Jacinta et al. Semin. Immunol. 2014 Dec (6) 454-70
(Posted: May 26, 2015 9AM)
Immunodeficiency-related vaccine-derived poliovirus (iVDPV) cases: a systematic review and implications for polio eradication.
Guo Jean et al. Vaccine 2015 Mar 3. (10) 1235-42
(Posted: May 23, 2015 8PM)
Important differences in the diagnostic spectrum of primary immunodeficiency in adults versus children.
Abolhassani Hassan et al. Expert Rev Clin Immunol 2015 Feb (2) 289-302
(Posted: May 23, 2015 9AM)
Novel primary immunodeficiency candidate genes predicted by the human gene connectome.
Itan Yuval et al. Front Immunol 2015 142
(Posted: May 23, 2015 9AM)
A Clinical and Laboratory Approach to the Evaluation of Innate Immunity in Pediatric CVID Patients.
Kutukculer Necil et al. Front Immunol 2015 145
(Posted: May 23, 2015 9AM)
Comparison of diagnostic criteria for common variable immunodeficiency disorder.
Ameratunga Rohan et al. Front Immunol 2014 415
(Posted: May 23, 2015 9AM)
Primary Immunodeficiencies with Elevated IgE.
Mogensen Trine H et al. Int. Rev. Immunol. 2015 May 13.
(Posted: May 23, 2015 9AM)
Stem cell transplantation for primary immunodeficiency diseases: the North American experience.
Pai Sung-Yun et al. Curr Opin Allergy Clin Immunol 2014 Dec (6) 521-6
(Posted: Apr 01, 2015 1PM)
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)
Screening for and treatments of congenital immunodeficiency diseases.
Verbsky James et al. Clin Perinatol 2014 Dec (4) 1001-15
(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)
Diagnosing primary immunodeficiency: a practical approach for the non-immunologist.
Lehman Heather et al. Curr Med Res Opin 2015 Apr (4) 697-706
(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)
Combined Immunodeficiency Due to MALT1 Mutations, Treated by Hematopoietic Cell Transplantation.
Punwani Divya et al. J. Clin. Immunol. 2015 Feb (2) 135-46
(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)
What is a rare disease? Polio eradication and primary immunodeficiency
(Posted: Feb 25, 2015 0PM)
What's the connection between polio eradication and primary immunodeficiency?
(Posted: Feb 25, 2015 0PM)
Newborn Screening: Severe Combined Immunodeficiency (SCID)
(Posted: Feb 25, 2015 0PM)
HIV/AIDS
(Posted: Jan 11, 2014 11AM)
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.
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 25, 2024
- Content source: