# OnCo record x-linked-lymphoproliferative-disease (term). Data CC BY-NC 4.0, attribute "Data from OnCo (onco.cc)". Whole corpus: https://onco.cc/api/v1/onco.nt
@prefix schema: <https://schema.org/> .
@prefix onco: <https://onco.cc/ns#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

<https://onco.cc/terms/x-linked-lymphoproliferative-disease/>
  a schema:DefinedTerm ;
  onco:kind "term" ;
  schema:identifier "x-linked-lymphoproliferative-disease" ;
  schema:name "X-linked lymphoproliferative disease type 1 (SAP deficiency)"@en ;
  schema:alternateName "XLP"@en, "XLP1"@en, "XLP-1"@en, "Duncan disease"@en, "Purtilo syndrome"@en, "SAP deficiency"@en, "SH2D1A deficiency"@en ;
  schema:description "X-linked lymphoproliferative disease is a rare inherited immune deficiency, mainly in boys, caused by a fault in the SH2D1A gene, in which the glandular fever virus can trigger a life-threatening overreaction of the immune system or lymphoma. A stem cell transplant is the treatment that changes its course."@en ;
  schema:url <https://onco.cc/terms/x-linked-lymphoproliferative-disease/> ;
  schema:dateModified "2026-11-04"^^xsd:date ;
  schema:sameAs <https://en.wikipedia.org/wiki/X-linked_lymphoproliferative_disease> ;
  schema:citation <https://doi.org/10.3389/fimmu.2025.1620327>, <https://www.orpha.net/en/disease/detail/538931> ;
  onco:tag "gap-fill", "hereditary" ;
  onco:technologies <https://onco.cc/technologies/allogeneic-hsct/>, <https://onco.cc/technologies/germline-testing/> ;
  onco:terms <https://onco.cc/terms/hereditary-cancer-syndromes/> .