Genopathy
Gene-Disorder Association · Article
Gene
CTLA4
Cytotoxic T-Lymphocyte Associated Protein 4
Disorder
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
First reported 2014
Supporting publications 34
Key publication · gene–disorder Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4.Science (New York, N.Y.) · 2014
Key publication · disorder [Laboratory tests with 2 anti-influenzal preparations--flumidine and injectio bupleuri (Chai-hu)].Casopis lekaru ceskych · 1962
Manually curated
Association Review

In brief

The association between CTLA4 (Cytotoxic T-Lymphocyte Associated Protein 4) and Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 227
Symptoms 64
Compounds 0
Trials 0
Publications 34
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

5 sources

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

Request access
03
CTLA4

The gene

1 source summary

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

Request access
04
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation

The disorder

9 database identifiers

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

Request access
05
Phenotype

Clinical features

35 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

227 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

34 publications

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

Request access
09
Provenance

References & sources

16 references

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

Request access