Information on IMD60

Basic details

Name: Immunodeficiency 60 | Acronym: IMD60
Alt. names:

Gene: BACH2 | MOI: Autosomal dominant | Mechanism of action:

No. of cases in DB: 0 | First reported in: 2017

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

OMIM: 618394

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Description

Individuals may manifest with findings such as inflammatory bowel disease and recurrent sinopulmonary infections and antiinfectious prophylaxis and early and aggressive treatment of infections may be beneficial. Refs. PMIDs: 28530713

Management

Description of management option has not been reviewed yet.

Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.

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	Chronic diarrhea	3 (99.9%)	0 (0.0%)
2	Decreased basophil count	3 (99.9%)	0 (0.0%)
3	Decreased IgA levels	3 (99.9%)	0 (0.0%)
4	Decreased proportion of memory B cells	3 (99.9%)	0 (0.0%)
5	Sinopulmonary infections	3 (99.9%)	0 (0.0%)
6	Bronchiectasis	2 (66.7%)	1 (33.3%)
7	Decreased IgE levels	2 (66.7%)	1 (33.3%)
8	Decreased IgG levels	2 (66.7%)	1 (33.3%)
9	Decreased IgM levels	2 (66.7%)	1 (33.3%)
10	Crohn's disease	1 (33.3%)	2 (66.7%)
11	perinuclear antineutrophil antibodies	1 (33.3%)	2 (66.7%)
12	ulcerative colitis	1 (33.3%)	2 (66.7%)

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Summary of treatment outcomes

[Considering only Definitive and Possible cases]

Treatment ⓘ	Responses & clinical indications

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