Conditions Other than Severe Combined Immune Deficiency Found on SCID Newborn Screening
Main Article Content
Abstract
Severe combined immune deficiency (SCID) is caused by a wide variety of genetic variants that result in absent or diminished levels of mature and functional T cells. SCID Newborn Screening programs that detect T cell receptor excision circles have resulted in early intervention and improvement in survival rates in infants with SCID but have also identified other conditions with low T cells. These conditions trigger what could be thought of as false positive tests for SCID, but for the most part they do reflect low T cells in conditions other than SCID. The scope of this review is entities other than severe combined immune deficiency that cause low T cell receptor excision circles (TRECs) and are thus identified on newborn screening. Secondary immune deficiencies from prematurity, neonatal medical conditions, hypomorphic or incomplete variants of SCID, transient T cell lymphopenia of infancy, and primary immune deficiencies that do not qualify as SCID are all elaborated. Identification and treatment options for these conditions leading to low TRECs are discussed.
Article Details
How to Cite
FREIJ, Joudeh B; SECORD, Elizabeth A.
Conditions Other than Severe Combined Immune Deficiency Found on SCID Newborn Screening.
Medical Research Archives, [S.l.], v. 10, n. 8, aug. 2022.
ISSN 2375-1924.
Available at: <https://esmed.org/MRA/mra/article/view/3052>. Date accessed: 26 dec. 2024.
doi: https://doi.org/10.18103/mra.v10i8.3052.
Section
Review Articles
The Medical Research Archives grants authors the right to publish and reproduce the unrevised contribution in whole or in part at any time and in any form for any scholarly non-commercial purpose with the condition that all publications of the contribution include a full citation to the journal as published by the Medical Research Archives.
References
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22. Notarangelo LD, Kim M, Walter JE, Lee YE. Human RAG mutations: biochemistry and clinical implications. Nat Rev Immunol. Pub online 2016 March 21. Doi: 10.1038/nri.2016.28.
23. Vogel BH, Bonagura V, Weinberg GA, Ballow M, Isabelle J, DiAntonio L, Parker A, Young A, Cunningham-Rundles C, Fong CT, Celestin J, Lehman H, Rubinstein A, Siegel S, Weiner L, Saavedra-Matiz C, Kay DM, Caggana M. Newborn screening for SCID in New York State: experience from the first two years. J Clin Immunol. 2014;34:289–303.
24. Lev A, Simon AK, Ben-Ari J, Takagi D, Stauber T, Trakhtenbrot L, Rosenthal E, Rechavi G, Amariglio N, Somech R. "Co-existence of clonal expanded autologous and transplacental-acquired maternal T cells in recombination activating gene-deficient severe combined immunodeficiency". Clin Exp Immunol. 176 (3): 380–386.
25. Cavazzana-Calvo M, de Villartey JP. Omenn syndrome: more than a disorder of RAG1 or RAG2 genes. Blood 2005 105:4156; doi: https://doi.org/10.1182/blood-2005-03-1166
26. Ege M, Ma Y, Kalwak K, Lu H, Schwarz K, Pannike U. Omenn Syndrome due to ATREMIS Mutaions. Blood. 2005 Jun 1;105(11):4179-86.
27. Albin-Leeds S, Ochoa J, Mehta H, Vogel BH, Caggana M, Bonagura V, Lehman H, Ballow M, Rubinstein A, Siegel S, Weiner L, Weinberg GA, Cunningham-Rundles C. Idiopathic T cell lymphopenia identified in New York State Newborn Screening. Clin Immunol. 2017 Oct;183:36-40. doi: 10.1016/j.clim.2017.07.002. Epub 2017 Jul 8.
28. Sporter R, Capo C, Bonagura VR. Transient Lymphopenia of Infancy: A Previously Unrecognized Entity. JACI. Vol. 133(2) Presented 2016 AAAAI San Diego CA.
29. Wood H, Burns C, Hawkins H, Tomechko S. P-14 A False Positive for Severe Combined Immune Deficiency (SCID) Caused by a Mutation with the MI T-cell Receptor Excision Circle (TREC) Assay. Newborn Screening Program, Michigan Department of Health and Human Services, Lansing MI. Presented at APHL National Meeting Atlanta, GA 2016.
2. Dvorak CC, Cowan MJ, Logan BR, Notarangelo LD, Griffith LM, Puck JM, et al. The natural history of children with severe combined immunodeficiency: baseline features of the first fifty patients of the primary immune deficiency treatment consortium prospective study 6901. J Clin Immunol. 2013;33:1156–1164. doi: 10.1007/s10875-013-9917-y.
3. Kwan A, Abraham RS, Currier R, Brower A, Andruszewski K, Abbott JK et. al, Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. JAMA. 2014 Aug 20; 312(7):729-38. doi: 10.1001/jama.2014.9132.
4. Chan K, Puck JM. Development of population-based newborn screening for severe combined immunodeficiency. J Allergy Clin Immunol. 2005;115:391–398. doi: 10.1016/j.jaci.2004.10.012.
5. Serana F, Chiarini M, Zanotti C, Sottini A, Bertoli D, Bosio A, et al. Use of V(D)J recombination excision circles to identify T- and B-cell defects and to monitor the treatment in primary and acquired immunodeficiencies. J Transl Med. 2013;11:119. doi: 10.1186/1479-5876-11-119.
6. Pai S, Logan B, Griffith L, Buckley R, Parrott R, Dvorak C, et al. Transplantation outcomes for severe combined immunodeficiency, 2000–2009. N Engl J Med. 2014; 371:434–446. doi: 10.1056/NEJMoa1401177.
7. Myers LA, Patel DD, Puck JM, Buckley RH. Hematopoietic stem cell transplantation for severe combined immunodeficiency in the neonatal period leads to superior thymic output and improved survival. Blood. 2002; 99(3):872–878.
8. Miller J, Tuerck J, Newborn Screening Guidelines for Premature and/or Sick Newborns: A Proposed Guideline. Presented at APHL Annual Conference 2014 in Phoenix, AZ
9. Tierce M, Ruehle M, Secord E. TREC <30 in infants without SCID as a marker for high mortality. JACI Vol 131 (2) AB73. Feb 2013. Presented San Antonio, TX AAAAI Feb. 2013.
10. Lucas A, Cole TJ. Breast milk and neonatal enterocolitis. Lancet. 1990 Dec 22-29; 336(8730):1519-23.
11. Cunningham-Rundles C, Fong CT, Celestin J, Lehman H, Rubinstein A, Siegel S, Weiner L, Saavedra-Matiz C, Kay DM, Caggana M. Newborn screening for SCID in New York State: experience from the first two years. J Clin Immunol. 2014; 34:289–303.
12. Routes JM, Grossman WJ, Verbsky J, Laessig RH, Hoffman GL, Brokopp CD, et al. Statewide newborn screening for severe T-cell lymphopenia. JAMA. 2009; 302:2465–2470. doi: 10.1001/jama.2009.1806.
13. Kuo CY, Garcia-Loret MI, Slev P, Bohnsack JF, Chen K, Profound T cell Lymphopenia Associated with Prenatal Exposure to Purine Antagonists Detected by TREC Screening. Case Reports in Immunology. Vol 2016, Article ID 5083274.
14. Mariotti V, Marconi AM Pardi. Undesired Effects of Steroids During Pregnancy. J Matern Fetal Neonatal Med. 2004 Nov; 16 Suppl 2:5-7.
15. Atkins AE, Ward C. E., Baptist A. P. Challenges of newborn severe combined immunodeficiency screening among premature infants. Pediatrics. 2013;131(4):e1298–e1302.
16. Kostadinov S, Robbins KA, Hayward A. Abnormal TREC-Based Newborn Screening Test in a Premature Neonate with Massive Perivillous Fibrin Deposition of the Placenta. Case Reports Immunol. 2016;2016:5083274. doi: 10.1155/2016/5083274. Epub 2016 Jun 22. PMID: 27403355; PMCID: PMC4923521.
17. McDonald-McGinn DM, Emanuel BS, Zackai EH. 22q11.2 deletion syndrome. GeneReviews. February 28, 2013; https://www.ncbi.nlm.nih.gov/books/NBK1523.
18. McDonald-McGinn, Donna M. and Sullivan, Kathleen E. Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome). Medicine. January 2011; 90(1):1-18.
19. MedlinePlus [Internet]. Bethesda (MD): National Library of Medicine (US); 22q11.2 [updated Dec 1, 2019, cited June 22, 2022]. Available from: https://medlineplus.gov/.: https://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome
20. Bassett AS, Chow EWC, Husted J, et al. Premature death in adults with 22q11.2 deletion syndrome. J Med Genet. May, 2009; 46(5):324-330. https://www.ncbi.nlm.nih.gov/pubmed/19246480. Accessed 4/17/2014.
21. Shearer WT, Dunn E, Notarangelo LD, Dvorak CC, Puck JM, Logan BR et al. Establishing Diagnostic Criteria for SCID, Leaky SCID, and Omenn Syndrome: The Primary Immune Deficiency Treatment Consortium Experience. J Allergy Clin Immunology. 2014 Apr; 133(4):1092-1098.
22. Notarangelo LD, Kim M, Walter JE, Lee YE. Human RAG mutations: biochemistry and clinical implications. Nat Rev Immunol. Pub online 2016 March 21. Doi: 10.1038/nri.2016.28.
23. Vogel BH, Bonagura V, Weinberg GA, Ballow M, Isabelle J, DiAntonio L, Parker A, Young A, Cunningham-Rundles C, Fong CT, Celestin J, Lehman H, Rubinstein A, Siegel S, Weiner L, Saavedra-Matiz C, Kay DM, Caggana M. Newborn screening for SCID in New York State: experience from the first two years. J Clin Immunol. 2014;34:289–303.
24. Lev A, Simon AK, Ben-Ari J, Takagi D, Stauber T, Trakhtenbrot L, Rosenthal E, Rechavi G, Amariglio N, Somech R. "Co-existence of clonal expanded autologous and transplacental-acquired maternal T cells in recombination activating gene-deficient severe combined immunodeficiency". Clin Exp Immunol. 176 (3): 380–386.
25. Cavazzana-Calvo M, de Villartey JP. Omenn syndrome: more than a disorder of RAG1 or RAG2 genes. Blood 2005 105:4156; doi: https://doi.org/10.1182/blood-2005-03-1166
26. Ege M, Ma Y, Kalwak K, Lu H, Schwarz K, Pannike U. Omenn Syndrome due to ATREMIS Mutaions. Blood. 2005 Jun 1;105(11):4179-86.
27. Albin-Leeds S, Ochoa J, Mehta H, Vogel BH, Caggana M, Bonagura V, Lehman H, Ballow M, Rubinstein A, Siegel S, Weiner L, Weinberg GA, Cunningham-Rundles C. Idiopathic T cell lymphopenia identified in New York State Newborn Screening. Clin Immunol. 2017 Oct;183:36-40. doi: 10.1016/j.clim.2017.07.002. Epub 2017 Jul 8.
28. Sporter R, Capo C, Bonagura VR. Transient Lymphopenia of Infancy: A Previously Unrecognized Entity. JACI. Vol. 133(2) Presented 2016 AAAAI San Diego CA.
29. Wood H, Burns C, Hawkins H, Tomechko S. P-14 A False Positive for Severe Combined Immune Deficiency (SCID) Caused by a Mutation with the MI T-cell Receptor Excision Circle (TREC) Assay. Newborn Screening Program, Michigan Department of Health and Human Services, Lansing MI. Presented at APHL National Meeting Atlanta, GA 2016.