Information on CID40
Basic details
Name: Combined immunodeficiency 40 | Acronym: CID40
Alt. names: IKK-alfa deficiency
Gene: CHUK | MOI: Autosomal recessive | Mechanism of action: Loss of Function
No. of cases in DB: 0 | First reported in: 2021
Last updated on: 2023-02-28 16:41:18 by Andrés Caballero-Oteyza
OMIM:
Orphanet: -
MONDO: -
DOID: -
ClinGen:
Description
Only one patient has been reported with this condition (PMID:34533979). Patient presented with a combined immunodeficiency with autoimmunity phenotype, characterized by recurrent bacterial, viral, fungal infections, and absent secondary lymphoid tissues. She also had skeletal abnormalities and failure to thrive.
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 | Absent | Unreported |
|---|
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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.