Information on OS3

Basic details

Name: Omenn syndrome 3 | Acronym: OS3
Alt. names: T+B- SCID

Gene: RAG2 | MOI: Autosomal recessive | Mechanism of action:

No. of cases in DB: 2 | First reported in: 1998

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

OMIM: 603554

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Description

Antiinfectious prophylaxis (though special consideration is necessary related to the use of live vaccines) and early and aggressive treatment of infections may be beneficial. Refs. PMIDs: 9630231; 10226883; 16276422; 20128425; 18463379; 21624848; 21184155; 21625022

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.

2 reported cases added to GenIA

SubjectID	Sex	Fam.ID	AD	AFM	Validity	Country	Population	Reference & Pub.code
104851	M	215585	1	0		Egypt	Egyptian	PMID:30307608 [6]
104855	F	215589	0	0		Egypt	Egyptian	PMID:30307608 [7]

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	Unreported
1	(unusual) Respiratory tract infection	2 (99.9%)	0 (0.0%)
2	Hepatopathy	2 (99.9%)	0 (0.0%)
3	Abnormal lymphoproliferation	2 (99.9%)	0 (0.0%)
4	Lung disease	2 (99.9%)	0 (0.0%)
5	Hepatomegaly	2 (99.9%)	0 (0.0%)
6	Pneumonia	2 (99.9%)	0 (0.0%)
7	Erythroderma	2 (99.9%)	0 (0.0%)
8	Enteropathy	1 (50.0%)	1 (50.0%)
9	Diarrhea	1 (50.0%)	1 (50.0%)

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
Antibiotics	Absent (1) for Pneumonia. Mild (1) for Pneumonia

Please mind that full curation of this condition has not been completed yet. It is currently ongoing.