Details of Disease

General Information of Disease (ID: DISY2LSN)

Disease Name Lymphoproliferative syndrome 1
Synonyms LPFS1; lymphoproliferative syndrome caused by mutation in ITK; lymphoproliferative syndrome type 1; lymphoproliferative syndrome 1; ITK deficiency; ITK lymphoproliferative syndrome
Definition
A condition of decreased or absent presence or activity of IL2-inducible t-cell kinase. Deficiency of this protein is associated with lymphoproliferative syndrome 1, an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia..
Disease Hierarchy
DIS093I0: Immunodeficiency
DISMVL8O: Lymphoproliferative syndrome
DISY2LSN: Lymphoproliferative syndrome 1
Disease Identifiers
MONDO ID
MONDO_0013081
UMLS CUI
C3552634
OMIM ID
613011
MedGen ID
765548
Orphanet ID
538963
SNOMED CT ID
1186714005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
ITK TT3C80U Definitive Autosomal recessive [1]
ITK TT3C80U Definitive Biomarker [2]
------------------------------------------------------------------------------------
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
ITK OTW4HC8M Definitive Autosomal recessive [1]
------------------------------------------------------------------------------------

References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
2 Atypical Clinical Course in Pediatric Hodgkin Lymphoma: Association With Germline Mutations in Interleukin-2-inducible T-Cell Kinase.J Pediatr Hematol Oncol. 2015 Oct;37(7):507-8. doi: 10.1097/MPH.0000000000000366.