Information on IRAK1D
Basic details
Name: IRAK1 deficiency | Acronym: IRAK1D
Alt. names: bacterial susceptibility
Gene: IRAK1 | MOI: X-linked | Mechanism of action:
No. of cases in DB: 1 | First reported in: 2017
Last updated on: 2023-02-28 16:41:18 by Andrés Caballero-Oteyza
OMIM:
Orphanet: -
MONDO: -
DOID: -
ClinGen:
Description
Condition reported for the first time in 2017 ina boy with X-linked MECP2 deficiency-related syndrome due to a large de novo Xq28 chromosomal deletion encompassing both MECP2 and IRAK1(PMID:28069966). The child died at 7 months of age, but unlike most IRAK-4- or MyD88-deficient patients, he did not suffer from invasive bacterial diseases during his short life.
Management
Description of management option has not been reviewed yet.
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1 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
|---|---|---|---|---|---|---|---|---|
105346 |
M | 215708 | 1 | 0 | Italy | Italian | PMID:28069966 [1] |
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 |
|---|
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Summary of treatment outcomes
[Considering only Definitive and Possible cases]
| Treatment ⓘ | Responses & clinical indications |
|---|
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