Lymphoproliferative Syndrome 1

Preferred Label : Lymphoproliferative Syndrome 1;

NCIt synonyms : ITK Deficiency; LPFS1;

NCIt related terms : Lymphoproliferative Syndrome 1/ITK Deficiency; IL-2 Inducible T-cell Kinase Deficiency;

NCIt definition : An autosomal recessive immunodeficiency caused but mutation(s) in the ITK gene, encoding tyrosine-protein kinase ITK/TSK. It is characterized by the early childhood onset of Epstein-Barr virus (EBV)-associated immune dysregulation leading to lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, and/or hypogammaglobulinemia.;

Details

Origin ID

C126344;

UMLS CUI

C4283841;

Automatic exact mappings (from CISMeF team)
- Combined immunodeficiency due to CD27 deficiency [ORDO Disease]
- Combined immunodeficiency due to ITK deficiency [ORDO Disease]
Currated CISMeF NLP mapping
- Lymphoproliferative syndrome 1 [OMIM Phenotype]
- lymphoproliferative syndrome 1 [DO Concept]
- lymphoproliferative syndrome, Ebv-Associated, autosomal, 1 [MeSH concept]
- lymphoproliferative syndrome, Ebv-Associated, autosomal, 1 [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
disease_mapped_to_gene
- ITK Gene [NCIt concept]
related_to_genetic_biomarker
- ITK Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients