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Wando Mount Pleasant Library
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Village Library
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St. Paul's/Hollywood Library
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Otranto Road Library
9 a.m. - 5 p.m.
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Mt. Pleasant Library
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John's Island Library
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Folly Beach Library
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Miss Jane's Building (Edisto Library Temporary Location)
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Reticular Dysgenesis: A Rare Immunodeficiency in a Neonate With Cytopenias and Bacterial Sepsis.
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- Author(s): Janardan, Sanyukta K.; Pencheva, Bojana; Ross, Anthony; Karpen, Heidi E.; Rytting, Heather; Batsuli, Glaivy
- Source:
Pediatrics. Dec2021, Vol. 148 Issue 6, p1-6. 6p. - Source:
- Additional Information
- Subject Terms:
- Abstract: Severe combined immunodeficiency (SCID) consists of a group of disorders defined by abnormal B and T cell development that typically results in death within the first year of life if undiagnosed or untreated. Reticular dysgenesis (RD) is a rare but especially severe form of SCID that is caused by adenylate kinase 2 deficiency and is characterized not only by lymphopenia but also by profound neutropenia. RD predisposes patients to viral and fungal infections typical of SCID as well as serious bacterial infections atypical in the neonatal period in other SCID types. RD is also associated with sensorineural hearing loss not typically seen in other forms of SCID. Without rapid diagnosis and curative hematopoietic stem cell transplantation, RD is fatal within days to months due to overwhelming bacterial infection. The inclusion of the T cell receptor excision circle assay nationally in 2017 on the newborn screen has facilitated diagnosis of SCID in the neonatal period. This case reports on a male infant with RD who presented after preterm birth with severe cytopenias and a gastrointestinal anomaly and ultimately developed severe bacterial sepsis. Postmortem bone marrow evaluation and panel-based gene sequencing identifying 2 novel variants in the adenylate kinase 2 gene provided confirmation for a diagnosis of RD. This case emphasizes the importance of thorough diagnostic evaluation, including the newborn screen, in neonates and infants with persistent and unexplained cytopenias. Prompt hematology and/or immunology referral is advised for disease management and to facilitate hematopoietic stem cell transplantation to optimize long-term survival. [ABSTRACT FROM AUTHOR]
- Abstract: Copyright of Pediatrics is the property of American Academy of Pediatrics and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
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