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lymphoproliferative syndrome 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

lymphoproliferative syndrome 1

MONDO:0013081

Also known as:ITK deficiencyITK lymphoproliferative syndromeLPFS1

Overview

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..

GeneticsAutosomal recessive · ITK (chr 5)

ResearchLimited published research (6 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Pleural effusion, Persistent EBV viremia, Enlarged liver (hepatomegaly), and Decreased CD4+ T cell proportion and others; and very common findings: Hodgkin lymphoma. 26 total HPO annotations.

Organ System	Phenotype Count	Example Features
Blood and immune system	12	Autoimmunity, Autoimmune hemolytic anemia, Recurrent infections

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

ITK encodes IL2 inducible T cell kinase (620 aa). Tyrosine kinase that plays an essential role in regulation of the adaptive immune response. Highest expression in Spleen (16.7 TPM) and Whole Blood (10.5 TPM).

Lymphoproliferative syndrome 1 is caused by mutations in the ITK gene on chromosome 5.

The ITK protein participates in Recruitment of ITK to SLP-76, Syk activation leads to SLP-76 activation, and Recruitment of TEC kinases to p-SLP-76 pathways.

ITK is classified as a druggable target (Clinically Actionable, Druggable Genome, Enzyme, Kinase, and Tyrosine Kinase categories) with score 5.8.

Diagnosis

Genetic testing for ITK is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 12 always present features, 1 very common feature, 8 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for lymphoproliferative syndrome 1.

6 publications have been identified in PubMed for lymphoproliferative syndrome 1. Research spans Case Report / Case Series (67%), Review / Meta-Analysis (17%), and Basic Science / Preclinical (17%).

Recent Publications

Hossain MS (2026). [PMID: 42146361](https://pubmed.ncbi.nlm.nih.gov/42146361/). *bioRxiv*. [Basic Science / Preclinical]
Oussama K (2026). [PMID: 42132280](https://pubmed.ncbi.nlm.nih.gov/42132280/). *Clin Exp Immunol*. [Case Report / Case Series]
Aliyeva G (2025). [PMID: 41099879](https://pubmed.ncbi.nlm.nih.gov/41099879/). *J Clin Immunol*. [Review / Meta-Analysis]
Kadhi A (2025). [PMID: 39853250](https://pubmed.ncbi.nlm.nih.gov/39853250/). *Dermatol Pract Concept*. [Case Report / Case Series]
Li HY (2024). [PMID: 38955711](https://pubmed.ncbi.nlm.nih.gov/38955711/). *Zhonghua Bing Li Xue Za Zhi*. [Case Report / Case Series]

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 5:33 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:613011

Orphanet

European rare disease database

Orphanet:538963

GARD

Genetic and Rare Diseases Info Center

GARD:17979

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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lymphoproliferative syndrome 1

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

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