Genopathy
Gene-Disorder Association · Article
Gene
NFKB2
Nuclear Factor Kappa B Subunit 2
Disorder
Immunodeficiency, Common Variable, 10
First reported 2012
Supporting publications 12
Key publication · gene–disorder Deficit in anterior pituitary function and variable immune deficiency (DAVID) in children presenting with adrenocorticotropin deficiency and severe infections.The Journal of clinical endocrinology and metabolism · 2012
Key publication · disorder David Gruby and the fungus growths.Medical woman's journal · 1950
Manually curated
Association Review

In brief

The association between NFKB2 (Nuclear Factor Kappa B Subunit 2) and Immunodeficiency, Common Variable, 10 is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording a known molecular basis and pathogenic variants.

Sources 3
Clinical variants 700
Symptoms 42
Compounds 0
Trials 0
Publications 12
01
At a glance

Association overview

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

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02
Provenance

Evidence and sources

3 sources

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

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03
NFKB2

The gene

2 source summaries

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

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04
Immunodeficiency, Common Variable, 10

The disorder

8 database identifiers

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

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05
Phenotype

Clinical features

24 clinical features

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

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06
ClinVar and variant evidence

Genetic basis

700 clinical variants

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

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07
Mechanism overlap

Shared mechanisms

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

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08
Literature

Reading

12 publications

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

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09
Provenance

References & sources

14 references

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

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