Diagnosing Job Syndrome as early as possible is crucial to managing this rare disease. Patients with the disease usually exhibit symptoms such as eczema, staphylococcal skin boils that are “cold” in nature, soft-tissue abscesses, mucocutaneous candidiasis, delayed shredding of the primary teeth, and spontaneous fractures. Other clinical features include cardiac and CNS aneurysms, fungal infections of the gastro intestinal tract and more.
If an immunologist suspects that a patient has the gene for Job Syndrome, it is important that testing is done at the appropriate lab facility with the capability of testing for Primary Immune Deficiencies (PIDs) like Job Syndrome.
The gold standard for confirming a diagnosis of Job Syndrome is the STAT3 Gene Sequencing test, which allows for the expression of a mutant STAT3 protein.
The other test that is frequently conducted on patients suspected of having Job Syndrome is the HIES Screen by Flow test, which is both a protein test and a functional test that measures the presence of IL-17 producing TH17 cells in the CD4+ T-cell population. It evaluates whether STAT3 is normally phosphorylated in patient cells after cytokine simulation.
The HIES Screen by Flow test is sensitive to diagnosing STAT3 Deficient/Job Syndrome since patients displaying symptoms of the disease have very low or absent Th17 cells.
A complete blood count with the differential Eosinophilia is also common in the initial diagnostic stages of the disease. Doctors may also order chest X-ray or CT scans to evaluate the presence of pneumatoceles.