Information on OS1
Basic details
Name: Omenn syndrome, 1 | Acronym: OS1
Alt. names:
Gene: DCLRE1C | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2005
Last updated on: 2023-02-28 16:41:18 by
Description
It is an inflammatory condition that presents during the first year of life with typical features of severe combined immunodeficiency (SCID) including chronic diarrhea, pneumonitis, and growth retardation. In addition, patients present with inflammatory symptoms including lymphadenopathy, hepatosplenomegaly (enlargement of the liver and spleen), and generalized erythroderma, which can often cause alopecia and loss of eyebrows and eyelashes. In addition, generalized edema and metabolic disturbances may appear.
Management
The main treatment is based on immunosuppressants (such as prednisone and cyclosporine), followed by a hematopoietic stem cell transplant. Prophylaxis against infections and their early and aggressive treatment are the best way to avoid the complications derived from them.
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0 reported cases added to GenIA
| SubjectID | Sex | Fam.ID | AD | AFM | Validity | Country | Population | Reference & Pub.code |
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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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