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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.
2019
2019
An 18-Year-Old Male With X-linked Lymphoproliferative Syndrome Type 1 Who Developed Primary Central Nervous System Lymphoma 6 Months After Primary Epstein-Barr Virus Infection.
X-linked lymphoproliferative syndrome type 1 (XLP1) is a rare congenital immunodeficiency disease. We report the case of an 18… 
2019
2019
Fever and Skin Eruption
  • H. Kanegane
  • Pediatric Immunology
  • 2019
  • Corpus ID: 208414209
A boy who presented with fever and skin eruptions was diagnosed as having type 1 X-Linked lymphoproliferative disease (XLP1… 
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… 
2017
2017
Targeted sequencing identifies a novel SH2D1A pathogenic variant in a Chinese family: Carrier screening and prenatal genetic testing
X-linked lymphoproliferative disease type 1 (XLP1) is a rare primary immunodeficiency characterized by a clinical triad… 
Review
2016
Review
2016
Two Unrelated Burkitt Lymphomas Seven Years Apart in a Patient With X-Linked Lymphoproliferative Disease Type 1 (XLP1).
OBJECTIVES We describe a rare case of a male child with X-linked lymphoproliferative disease type 1 (XLP1) who presented with… 
2015
2015
Maternal onset de novo SH2D1A mutation and lymphocytic choriomeningitis virus infection in a patient with X-linked lymphoproliferative disease type 1: A case report
X-linked lymphoproliferative disease type 1 (XLP1) is a rare genetic immunodeficiency disease, which occurs due to germline… 
Review
2014
Review
2014
Gene therapy for haemophagocytic lymphohistiocytosis.
Haemophagocytic lymphohistiocytosis (HLH) describes a severe and often fatal immunodysregulatory disorder caused primarily by the… 
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… 
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… 
2011
2011
CD4+ T Lymphocytes with follicular helper phenotype (T(FH)) in patients with SH2D1A deficiency (XLP).
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