lymphoproliferative syndrome 1
Findings
No curated finding names lymphoproliferative syndrome 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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..
Definition from the Mondo Disease Ontology (MONDO:0013081), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
26 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased total CD4+ T cell proportionHPOHP:0032218
- 2 of 2 reported patients
- Decreased total leukocyte countHPOHP:0001882
- 2 of 2 reported patients
- Elevated circulating C-reactive protein concentrationHPOHP:0011227
- 2 of 2 reported patients
- HepatomegalyHPOHP:0002240
- 2 of 2 reported patients
- Increased circulating ferritin concentrationHPOHP:0003281
- 2 of 2 reported patients
- LymphadenopathyHPO
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ITKHGNC:6171
- Definitive · ClinGen · Autosomal recessive · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
5 names
Resolves to: lymphoproliferative syndrome 1
- Also called
- ITK deficiencyITK lymphoproliferative syndromeLPFS1lymphoproliferative syndrome caused by mutation in ITKlymphoproliferative syndrome type 1