Case Report: Novel Splicing Variant in SH2D1A in a Patient With X-Linked Lymphoproliferative Syndrome Type 1

X-linked lymphoproliferative disease type 1 (XLP1), an X-linked recessive genetic disorder, is associated with primary immunodeficiency. Patients with XLP1 are susceptible to Epstein–Barr virus (EBV) infection. SH2D1A gene is known as the causative gene. We found a novel hemizygous variant of SH2D1A...

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Detalles Bibliográficos
Autores principales: Kwon, Won Kyung, Kim, Jee Ah, Park, Jong-Ho, Kim, Doo Ri, Park, Su Eun, Kim, Yae Jean, Yoo, Keon Hee, Jang, Ja-Hyun, Kang, Eun Suk
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8984122/
https://www.ncbi.nlm.nih.gov/pubmed/35402355
http://dx.doi.org/10.3389/fped.2022.812590

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8984122/
https://www.ncbi.nlm.nih.gov/pubmed/35402355
http://dx.doi.org/10.3389/fped.2022.812590

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