STAT3 Deficiency


STAT3 Deficiency - Ileocecal histoplasmosis (mimicking Crohns disease) and recurrent colonic infections have been reported in patients. Disseminated histoplasmosis has also been reported in STAT3 deficiency.


Hyper IgM Syndrome


Hyper IgM syndrome - Pulmonary infection and hepatitis from histoplasmosis have been reported in patients with this disease.


IFN-Gamma Receptor 1 Deficiency


IFN-gamma Receptor 1 Deficiency - Histoplasmosis has been reported in 1 patient with this disease.


Chronic Mucocutaneous Candidiasis



Chronic Mucocutaneous Candidiasis - Disseminated Histoplasmosis and Coccidiomycosis have been reported in patients with gain of function STAT1 mutations (mutations result in impaired IFN gamma immunity).


GATA2 Deficiency

GATA2 Deficiency - Patients suffer from fungal infections from Aspergillus and Histoplasmosis. Atypical mycobacterial and viral (HPV, molluscum contagiosum) infections also occur.


STAT1 Mutations



STAT1 (gain of function) mutations - Disseminated Histoplasmosis and Coccidiomycosis has been reported in patients with gain of function STAT1 mutations. Prolonged STAT1 phosphorylation, hypomethylation and dephosphorylation impair IFN-gamma restimulation which results in diminished Th1 immune responses.