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SH2D1A Deficiency

Known as: SH2D1A deficiency/XLP1, X-linked Lymphoproliferative Syndrome 1, XLP1 
A condition of decreased or absent presence or activity of SH2 domain protein 1A. Deficiency of this protein is associated with X-linked… 
National Institutes of Health

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Broader (1)

X-Linked Lymphoproliferative Disorder

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Transfer of gene corrected T cells corrects humoral and cytotoxic defects in X-linked lymphoproliferative disease (XLP1)
BACKGROUND: XLP1 arises from mutations in the SH2D1A gene encoding SAP, an adaptor protein expressed in T, NK and NKT cells… 
2016
2016
Table 2. [Clinical Phenotypes of SH2D1A-Related XLP (XLP1)].
2014
2014
Intrinsic defect in B-lymphoblastoid cell lines from patients with X-linked lymphoproliferative disease type 1. I. Cell surface phenotype and functional studies.
BACKGROUND: Mutations in SH2D1A/DSHP/SAP gene are responsible for the onset of X-linked lymphoproliferative disease type 1 (XLP1…