Genopathy
Gene-Disorder Association · Article
Gene
POU2AF1
POU Class 2 Homeobox Associating Factor 1
Disorder
Immunodeficiency 14b, Autosomal Recessive
First reported 2018
Key publication · disorder Primary immunodeficiency disorder caused by phosphoinositide 3-kinase δ deficiency.The Journal of allergy and clinical immunology · 2018
Manually curated
Association Review

In brief

The association between POU2AF1 (POU Class 2 Homeobox Associating Factor 1) and Immunodeficiency 14b, Autosomal Recessive is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 26
Compounds 0
Trials 0
Publications 0
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

1 source

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

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03
POU2AF1

The gene

1 source summary

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

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04
Immunodeficiency 14b, Autosomal Recessive

The disorder

6 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

16 clinical features

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

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06
Provenance

References & sources

4 references

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

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