Information on POLE2D

Name: Polymerase ? subunit 2 deficiency | Acronym: POLE2D
Alt. names: POLE2 deficiency

Gene: POLE2 | MOI: Autosomal recessive | Mechanism of action:

No. of cases in DB: 0 | First reported in: 2016

Last updated on: 2023-02-28 by Andrés Caballero-Oteyza

OMIM:

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Description

It is characterized by recurrent infections, disseminated BCG infections, autoimmunity (type 1 diabetes), hypothyroidism, facial dysmorphism, hypogammaglobulinemia, and very low B cell numbers. Patients also show lymphopenia, lack of TRECS at NBS, and absent proliferation in response to antigens (PMID: 26365386).

Management

Description of management option has not been reviewed yet.

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Summary of clinical findings

[Considering only Definitive and Possible cases]

Rank Clinical phenotype Present Absent Unreported
Age of onset
distribution

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Summary of treatment outcomes

[Considering only Definitive and Possible cases]

Treatment ⓘ Responses & clinical indications

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0 reported cases added to GenIA

SubjectID Sex Fam.ID AD AFM Validity Country Population Reference & Pub.code

AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).