Information on IKRS-DN
Basic details
Name: IKAROS deficiency | Acronym: IKRS-DN
Alt. names: IKAROS DN
Gene: IKZF1 | MOI: Autosomal dominant | Mechanism of action: Negative Dominance
No. of cases in DB: 0 | First reported in: 2018
Last updated on: 2023-02-28 16:41:18 by Andrés Caballero-Oteyza
OMIM:
Orphanet: -
MONDO: -
DOID: -
ClinGen:
Description
It is characterized by recurrent sinopulmonaryinfections, pneumocystis an early-onset combined immunodeficiency (CID) phenotype. Lab findings show low immunoglobulins, no memory B cells and no memory T cells. First cases were reported to carry the dominant-negative N159S and N159T mutations in 2018 (PMID:29889099)
Management
Description of management option has not been reviewed yet.
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.
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 been completed yet. It is currently ongoing.
Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
Please mind that full curation of this condition has not been completed yet. It is currently ongoing.