Genopathy
Gene-Disorder Association · Article
Gene
IL2RB
Interleukin 2 Receptor Subunit Beta
Disorder
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
First reported 2019
Supporting publications 2
Key publication · gene–disorder Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance.The Journal of experimental medicine · 2019
Key publication · disorder Individuals with IgA deficiency and common variable immunodeficiency share polymorphisms of major histocompatibility complex class III genes.Proceedings of the National Academy of Sciences of the United States of America · 1989
Manually curated
Association Review

In brief

The association between IL2RB (Interleukin 2 Receptor Subunit Beta) and Immunodeficiency 63 With Lymphoproliferation And Autoimmunity is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 4
Clinical variants 11
Symptoms 37
Compounds 0
Trials 0
Publications 2
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

4 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

Request access
03
IL2RB

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

Request access
04
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity

The disorder

8 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Request access
05
Phenotype

Clinical features

17 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
06
ClinVar and variant evidence

Genetic basis

11 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

Request access
07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Request access
08
Literature

Reading

2 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

Request access
09
Provenance

References & sources

8 references

Every source and publication cited across this dossier, as one numbered reference list.

Request access