Information on IMD16

Basic details

Name: Immunodeficiency 16 | Acronym: IMD16
Alt. names:

Gene: TNFRSF4 | MOI: Autosomal recessive | Mechanism of action:

No. of cases in DB: 0 | First reported in: 2013

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

OMIM: 615593

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Description

Individuals may be susceptible to severe infections, as well as related oncologic sequelae (eg, Kaposi sarcoma), and early and aggressive treatment of infections and related sequelae may be beneficial. Refs. PMIDs: 20156905; 23897980

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
1 Kaposi's sarcomaarrow icon 3 (99.9%) 0 (0.0%) 0 (0.0%)

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.