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

• Main Authors: Won Kyung Kwon (Author), Jee Ah Kim (Author), Jong-Ho Park (Author), Doo Ri Kim (Author), Su Eun Park (Author), Yae Jean Kim (Author), Keon Hee Yoo (Author), Ja-Hyun Jang (Author), Eun Suk Kang (Author)
• Formato: Livro
• Publicado em: Frontiers Media S.A., 2022-03-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

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...