Neonatal Lymphopenia Screening Is Important For Early Diagnosis of Severe Combined Immunodeficiency

Content Provider	Scilit
Author	Poyraz, Aykut Cansever, Murat Muderris, Ipek Patiroglu, Turkan
Copyright Year	2021
Description	Objective T-cell receptor excision circles are expensive for neonatal severe combined immunodeficiency screening in developing countries. We aimed to detect immunodeficiencies presenting with lymphopenia to enable screening in the general population and to improve awareness regarding lymphopenia among clinicians. Study Design This study was conducted prospectively. In all newborns included, complete blood count from umbilical cord blood samples was recorded. Absolute lymphopenia was defined as absolute lymphocyte count $<3,000/mm^{3}$ in umbilical cord blood sample. Complete blood count was repeated at month 1 in cases found to have lymphopenia. Results Overall, 2,000 newborns were included in the study. Absolute lymphopenia was detected in 42 newborns (2.1%), while lymphocyte count was $>3,000/mm^{3}$ in 1,958 newborns (97.9%). Two infants with persisted lymphopenia at the end of the first month; therefore, further evaluations such as lymphocyte subsets for severe combined immunodeficiency (SCID) were done. In the first infant, the lymphocyte subgroups were detected as compatible with T (−), B (−), natural killer cells (NK) (+) SCID phenotype RAG defect. Sanger sequencing revealed that NM_000448 c.2209C > T (p.R737C) homozygous mutation of RAG1 gene. In the other infant, the lymphocyte subgroups were found as considered with T (−), B (+) NK (−) SCID phenotype JAK3 defect. Both patients underwent hematopoietic stem cell transplantation from human leukocyte antigen-matched family member. Conclusion Absolute lymphopenia by complete blood count is a more simpler, relatively noninvasive and inexpensive screening methodfor detection of SCID in newborns compared with T-cell receptor excision circles technique. Key Points Received: 04 March 2021 Accepted: 30 April 2021 Article published online: 11 June 2021 © 2021. Thieme. All rights reserved. Thieme Medical Publishers, Inc. 333 Seventh Avenue, 18th Floor, New York, NY 10001, USA
Related Links	http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0041-1731044.pdf
ISSN	07351631
e-ISSN	10988785
DOI	10.1055/s-0041-1731044
Journal	American Journal of Perinatology
Language	English
Publisher	Georg Thieme Verlag KG
Publisher Date	2021-06-11
Access Restriction	Open
Subject Keyword	Journal: American Journal of Perinatology Otorhinolaryngology Neonatal Lymphopenia Severe Combined Immunodeficiency
Content Type	Text
Resource Type	Article
Subject	Pediatrics, Perinatology and Child Health Obstetrics and Gynecology