Information on AGM10

Basic details

Name: Agammaglobulinemia 10 | Acronym: AGM10
Alt. names: PU.1-mutated agammaglobulinemia

Gene: SPI1 | MOI: Autosomal dominant | Mechanism of action:

No. of cases in DB: 0 | First reported in: 2021

Last updated on: 2023-02-28 16:41:18 by

OMIM: 619707

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Description

Disease caused by heterozygous mutations in SPI1. All PU.MA subjects lack circulating B cells and are deficient PU.1 high expressing myeloid cells. PU.MA marrow samples displayed developmental B-cell arrest.

Management

Description of management option has not been reviewed yet.

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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).

Summary of clinical findings

[Considering only Definitive and Possible cases]

Rank	Clinical term	Present	Unreported
1	Absence of mature B cells	6 (99.9%)	0 (0.0%)
2	Agammaglobulinemia	6 (99.9%)	0 (0.0%)
3	Decreased IgA levels	6 (99.9%)	0 (0.0%)
4	Decreased IgM levels	6 (99.9%)	0 (0.0%)
5	Recurrent respiratory infections	6 (99.9%)	0 (0.0%)
6	Recurrent sinusitis	6 (99.9%)	0 (0.0%)
7	Congenital onset	5 (99.9%)	0 (0.0%)
8	Meningitis	1 (16.7%)	5 (83.3%)
9	Transient neutropenia	1 (16.7%)	5 (83.3%)
10	Type I diabetes mellitus	1 (16.7%)	5 (83.3%)

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Summary of treatment outcomes

[Considering only Definitive and Possible cases]

Treatment ⓘ	Responses & clinical indications

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