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
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."
Inborn errors of immunity: an expanding universe of disease and genetic architecture.
Yemsratch T Akalu et al. Nat Rev Genet 2023 10
From the abstract: "Inborn errors of immunity (IEIs) are generally considered to be rare monogenic disorders of the immune system that cause immunodeficiency, autoinflammation, autoimmunity, allergy and/or cancer. Here, we discuss evidence that IEIs need not be rare disorders or exclusively affect the immune system. Namely, an increasing number of patients with IEIs present with severe dysregulations of the central nervous, digestive, renal or pulmonary systems. "
Screening newborns for deadly immune disorder saves lives
NIH, July 2023
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.
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
Severe COVID-19 outcomes, including hospitalization, IMV, ICU admission, and death, are more frequent in PI patients than in non-PI patients seen in emergency departments. These results provide real-world evidence that PI is a risk factor for adverse COVID-19 outcomes.