primary immunodeficiency syndrome due to p14 deficiency
MeSH: C563663ORPHA: 90023
Overview
infections
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with primary immunodeficiency syndrome due to p14 deficiency, sourced from HPO and Orphanet clinical annotations.
Coarse facial featuresDecreased total neutrophil countImmunodeficiencyShort statureHypopigmentation of hairRecurrent bronchopulmonary infectionsPartial albinism
Classification & Codes
MeSH Code
C563663Orphanet Code
ORPHA:90023primary immunodeficiency syndrome due to p14 deficiency
| MeSH | C563663 |
| Orphanet | ORPHA:90023 |
| Treatments | 0 drug(s) |
| Symptoms on record | 7 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO