Information on IL10D
Basic details
Name: Il-10 deficiency | Acronym: IL10D
Alt. names:
Gene: IL10 | MOI: Autosomal recessive | Mechanism of action: Loss of Function
No. of cases in DB: 0 | First reported in: 2010
Last updated on: 2023-02-28 16:41:18 by
OMIM:
Orphanet: -
MONDO: -
DOID: -
ClinGen:
Description
Condition first reported by Glocker et al. in 2010 in 2 infants, who both carried a missense G113R mutation (PMID20934598). It is characterized by early-onset (before first year of life) inflammatory bowel disease (IBD), folliculitis, recurrent respiratory diseases, arthritis, and normal levels of circulating B and T cells.
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 | Absent | Unreported |
|---|
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.