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Case Reports
. 2024 Jun 25:51:22-25.
doi: 10.1016/j.jdcr.2024.05.042. eCollection 2024 Sep.

Type I bare lymphocyte syndrome with novel TAP1 and TAP2 pathogenic variants

Sahal Samarkandy  1   2 , Randa Khafaji  3 , Alhusain Alshareef  1   2
Affiliations
Case Reports

Type I bare lymphocyte syndrome with novel TAP1 and TAP2 pathogenic variants

Sahal Samarkandy et al. JAAD Case Rep. .
No abstract available

Keywords: HLA class I deficiency; bare lymphocyte syndrome; bare lymphocyte syndrome type I.

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Conflict of interest statement

None disclosed.

Figures

Fig 1
Fig 1
Six large well-demarcated round indurated plaques with some areas of ulcerations and yellowish crusts distributed asymmetrically over both lower extremities.
Fig 2
Fig 2
Multiple well-demarcated erythematous ulcerated plaques coalescing over the left ankle.
Fig 3
Fig 3
A, B, Depicting the dermatoscopic features of the lesions. A, Central white scarring (black arrow heads), yellow globules (solid arrows), and interspersed vessels (dashed arrows). B, Yellow globules (solid arrows) and peripheral telangiectatic vessels (dashed arrows).
Fig 4
Fig 4
Integrative Genomics Viewer images showcasing the deletions in TAP1 and TAP2 genes.
See this image and copyright information in PMC

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References

    1. Zimmer J., Andrès E., Donato L., Hanau D., Hentges F., de la Salle H. Clinical and immunological aspects of HLA class I deficiency. QJ Med. 2005;98(10):719–727. doi: 10.1093/qjmed/hci112. - DOI - PubMed
    1. Sommer S. The importance of immune gene variability (MHC) in evolutionary ecology and conservation. Front Zool. 2005;2:16. doi: 10.1186/1742-9994-2-16. - DOI - PMC - PubMed
    1. Chauhan P., Adya K.A. Dermatoscopy of cutaneous granulomatous disorders. Indian Dermatol Online J. 2021;12(1):34–44. doi: 10.4103/idoj.IDOJ_543_20. - DOI - PMC - PubMed
    1. Yabe T., Kawamura S., Sato M., et al. A subject with a novel type I bare lymphocyte syndrome has tapasin deficiency due to deletion of 4 exons by Alu-mediated recombination. Blood. 2002;100(4):1496–1498. doi: 10.1182/blood-2001-12-0252. - DOI - PubMed
    1. Shrestha D., Szöllosi J., Jenei A. Bare lymphocyte syndrome: an opportunity to discover our immune system. Immunol Lett. 2012;141(2):147–157. doi: 10.1016/j.imlet.2011.10.007. - DOI - PubMed

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