Abstract
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. 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/mm3 in umbilical cord blood sample. Complete blood count was repeated at month 1 in cases found to have lymphopenia. Overall, 2,000 newborns were included in the study. Absolute lymphopenia was detected in 42 newborns (2.1%), while lymphocyte count was >3,000/mm3 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 ...Continue Reading
References
Feb 13, 2001·Archives of Disease in Childhood·H B GasparA M Jones
Jan 25, 2002·Blood·Laurie A MyersRebecca H Buckley
Sep 11, 2007·Archives of Disease in Childhood·M T KrishnaA P Huissoon
Jan 29, 2011·Blood·Lucinda BrownH Bobby Gaspar
Oct 31, 2012·Current Opinion in Hematology·Stephan BorteLennart Hammarström
Jul 3, 2013·The Journal of Allergy and Clinical Immunology·Antonia KwanJennifer M Puck
Dec 3, 2013·The Journal of Allergy and Clinical Immunology·William T ShearerMorton J Cowan
Mar 5, 2014·BMJ : British Medical Journal·Dawn BrassFiona Scott
Mar 7, 2014·Immunologic Research·Vicki ModellFred Modell
Jul 31, 2014·The New England Journal of Medicine·Sung-Yun PaiRichard J O'Reilly
Aug 21, 2014·JAMA : the Journal of the American Medical Association·Antonia KwanVincent R Bonagura
May 6, 2015·Seminars in Perinatology·Antonia Kwan, Jennifer M Puck
Jan 16, 2016·Clinical Immunology : the Official Journal of the Clinical Immunology Society·Polina StepenskyYaacov Barak
Jul 12, 2017·Clinical Immunology : the Official Journal of the Clinical Immunology Society·Stephanie Albin-LeedsCharlotte Cunningham-Rundles
Aug 18, 2017·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·Ceren CanEmrah Can
Aug 23, 2017·The Journal of Molecular Diagnostics : JMD·Noemi Vidal-FolchDevin Oglesbee
Dec 20, 2018·Immunological Reviews·Jennifer M Puck
Mar 30, 2019·Journal of Clinical Immunology·Aydan IkinciogullariUNKNOWN Turkish Pediatric Bone Marrow Transplantation Sub Group (TPBMT-SG)
Dec 16, 2019·Journal of Clinical Immunology·Noa Greenberg-KushnirTali Stauber
Mar 18, 2020·Genes & Diseases·Rajni KumrahAmit Rawat
May 24, 2020·International Journal of Immunogenetics·Sinem FirtinaMuge Sayitoglu
Sep 16, 2020·Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie·C ThomasM Audrain