Genopathy
Gene-Disorder Association · Article
Gene
CHUK
Component Of Inhibitor Of Nuclear Factor Kappa B Kinase Complex
Disorder
Combined Immunodeficiency-Hypogammaglobulinemia-Skeletal Anomalies Syndrome Due To Ikbka Deficiency
First reported 2021
Supporting publications 2
Key publication · disorder Combined immunodeficiency with autoimmunity caused by a homozygous missense mutation in inhibitor of nuclear factor 𝛋B kinase alpha (IKKα).Science immunology · 2021
Manually curated
Association Review

In brief

The association between CHUK (Component Of Inhibitor Of Nuclear Factor Kappa B Kinase Complex) and Combined Immunodeficiency-Hypogammaglobulinemia-Skeletal Anomalies Syndrome Due To Ikbka Deficiency is a manually-curated gene–disease association, drawing on a single expert-curated source, which records a causative germline mutation.

Sources 1
Clinical variants 0
Symptoms 0
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

1 source

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

Request access
03
CHUK

The gene

2 source summaries

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

Request access
04
Combined Immunodeficiency-Hypogammaglobulinemia-Skeletal Anomalies Syndrome Due To Ikbka Deficiency

The disorder

2 database identifiers

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

Request access
05
Literature

Reading

2 publications

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

Request access
06
Provenance

References & sources

5 references

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

Request access