Information on XPPD
Name: Properdin deficiency, X-linked | Acronym: XPPD
Alt. names:
Gene: CFP | MOI: X-linked recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 1995
Last updated on: 2023-02-28 16:41:18 by
Description
Individuals are especially susceptible to Neisseria infections, warranting infectious prophylaxis and early and aggressive treatment of infections. Refs. PMIDs: 8530058; 8871668; 10909851; 22229731
Management
Description of management option has not been reviewed yet.
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Summary of clinical findings
[Considering only Definitive and Possible cases]
| Rank | Clinical phenotype | Present | Absent | Unreported |
|---|
Age of onset
distribution
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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.
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).