Janus kinase-3 deficiency
ORPHA: 35078
Overview
human disease
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 Janus kinase-3 deficiency, sourced from HPO and Orphanet clinical annotations.
Impaired lymphocyte transformation with phytohemagglutininAbsent cellular immunityDecreased total T cell countDecreased mitogen-induced T-cell proliferationDecreased total lymphocyte countChronic diarrheaRecurrent respiratory infectionsRecurrent opportunistic infectionsChronic oral candidiasisAbsent natural killer cellsAcute otitis mediaFailure to thrive in infancyDecreased circulating total IgMDecreased circulating IgG concentrationRecurrent viral infectionsRecurrent infection of the gastrointestinal tractRecurrent pneumoniaDecreased total B cell countPartial IgA deficiencyPustuleRectovaginal fistulaHyperpigmentation of the skinSkin rashHepatosplenomegalyAbnormal facial shape
Classification & Codes
Orphanet Code
ORPHA:35078Janus kinase-3 deficiency
| Orphanet | ORPHA:35078 |
| Treatments | 0 drug(s) |
| Symptoms on record | 25 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO