Meera Patrawala1, Lisa Kobrynski. 1. Department of Pediatrics, Allergy/Immunology Section, Children's Healthcare of Atlanta, Emory University School of Medicine, Atlanta, Georgia, USA.
Abstract
PURPOSE OF REVIEW: Although severe combined immunodeficiency (SCID) is the primary target condition for newborn screening (NBS), over 25 secondary targets, conditions other than SCID, have been identified. There is no standard method for evaluating neonates with non-SCID T-cell lymphopenia (TCL) and no standard approaches to treatment. We will describe these conditions and discuss recommendations for evaluating and follow-up of non-SCID TCL detected by NBS. RECENT FINDINGS: The birth prevalence of non-SCID TCL detected through SCID NBS is higher than SCID and can be a burden on NBS programs. We will present some publications discussing outcomes and comorbidities in these patients. SUMMARY: NBS for SCID has been very successful in identifying infants with SCID at birth to institute early life saving therapies. TCL due to other conditions can cause significant immune deficiency and treatment is dependent on the cause of the defect, as well as the magnitude of the immunodeficiency. Data collection from NBS programs should include assessment of various therapies and clinical outcomes. Better systems for recording long-term outcomes of SCID NBS including both SCID and non-SCID conditions should become a priority for NBS programs. This will help to advance the goal of NBS programs: improve outcomes in the most cost-effective manner.
PURPOSE OF REVIEW: Although severe combined immunodeficiency (SCID) is the primary target condition for newborn screening (NBS), over 25 secondary targets, conditions other than SCID, have been identified. There is no standard method for evaluating neonates with non-SCID T-cell lymphopenia (TCL) and no standard approaches to treatment. We will describe these conditions and discuss recommendations for evaluating and follow-up of non-SCIDTCL detected by NBS. RECENT FINDINGS: The birth prevalence of non-SCIDTCL detected through SCID NBS is higher than SCID and can be a burden on NBS programs. We will present some publications discussing outcomes and comorbidities in these patients. SUMMARY:NBS for SCID has been very successful in identifying infants with SCID at birth to institute early life saving therapies. TCL due to other conditions can cause significant immune deficiency and treatment is dependent on the cause of the defect, as well as the magnitude of the immunodeficiency. Data collection from NBS programs should include assessment of various therapies and clinical outcomes. Better systems for recording long-term outcomes of SCID NBS including both SCID and non-SCID conditions should become a priority for NBS programs. This will help to advance the goal of NBS programs: improve outcomes in the most cost-effective manner.
Authors: Martin Oman Evans; Maureen M Petersen; Amer Khojah; Soma C Jyonouchi; George S Edwardson; Yasmin West Khan; James Albert Connelly; David Morris; Shamik Majumdar; David H McDermott; Jolan E Walter; Philip M Murphy Journal: J Clin Immunol Date: 2021-01-07 Impact factor: 8.317