Table 7.
Endemic mycoses in AD hyper-IgE syndrome (Job syndrome).
| Genetic defect | Endemic fungal pathogen | Gender/age, residence | Clinical manifestations | Other infections and comorbidities | Treatment and outcome | |
|---|---|---|---|---|---|---|
| Stanga and Dajud (173) | Not stated | Coccidioides immitis | F/4 years | Coccidioidal meningitis with cerebral infarct at multiple sites, gross left hemiplegia | Recurrent sinus and skin infections, eczema | Treated with amphotericin B and fluconazole, minimal residual deficits |
| Powers et al. (174) | Heterozygous p.T412S | C. immitis | F/17 years, UT, USA | Coccidioidal meningitis and cerebral abscess, altered mental status requiring temporary intubation | Staphylococcus aureus skin and soft tissue infections, recurrent sinopulmonary infections | Improved with liposomal amphotericin, followed by fluconazole prophylaxis |
| Odio et al. (87) | Heterozygous p.V713M | C. immitis | F/4 years, AZ, USA | Coccidioidal meningitis and pulmonary infection presenting with fever, headache, and seizure | Recurrent pneumonia and otitis, skin infections, eczema, thrush | Complicated by cerebral vascular accident and hydrocephalus, treated with liposomal amphotericin and fluconazole Residual left hemiparesis |
| Alberti-Flor et al. (175) | Not stated | Histoplasma capsulatum | M/16 years | Histoplasmosis with ileocecal involvement | Not stated | Resection of terminal ileum and right colon, treated with ketoconazole with good response |
| Cappell et al. (176) | Not stated | H. capsulatum | F/27 years | Disseminated histoplasmosis with cecum, colon, and bone marrow involvement | Not stated | Treated with amphotericin B and ketoconazole |
| Desai et al. (177) | Not stated | H. capsulatum | M/33 years | Histoplasmosis with pulmonary and tongue involvement | Eczema, recurrent sinopulmonary infections, thrush and onychomycosis, Staphylococcal septic arthritis, Cryptococcus meningitis at 37 years | Histoplasmosis treated with amphotericin B and ketoconazole; lobectomy for bronchiectasis |
| Steiner et al. (178) | Not stated | H. capsulatum | F/14 years | Histoplasmosis with ileocecal involvement | Staphylococcal pneumonitis complicated by cystic changes and bronchopleural fistula | Treated with 12 months of itraconzole with good response |
| Robinson et al. (179) | Heterozygous p.K591M | H. capsulatum | M/33 months | Disseminated histoplasmosis with pneumonia and hepatosplenomegaly | Pneumonia, otitis, thrush, eczema, folliculitis, gastroenteritis, multiple fractures, pneumatocele, multiple allergy, developmental delay | Not stated |
| Rana et al. (180) | Not stated | H. capsulatum | F/4 years, India | Histoplasmosis with rectal involvement | Recurrent subcutaneous abscess, giardiasis, Entamoeba infection, molluscum contagiosum, milk allergy | Good response to treatment |
| Jiao et al. (181) | Not stated | H. capsulatum | M/21 years | Terminal ileal perforation, histopathology showed H. capsulatum within histiocytes | Not stated | Partial small bowel resection Liposomal amphotericin, itraconazole |
| Odio et al. (182) | Heterozygous p.V432M | H. capsulatum | M/10 years, US | Disseminated histoplasmosis with pulmonary, liver, and spleen involvement | Not stated | Treated with liposomal amphotericin, itraconzaole, and posaconazole |
| Heterozygous p.F621V | H. capsulatum | F/15 years, US | Histoplasmosis with gastrointestinal involvement, complicated by duodenal stricture | Not stated | Treated with liposomal amphotericin and itraconazole | |
| Heterozygous p.W479C | H. capsulatum | F/22 years, US | Histoplasmosis with laryngeal involvement requiring reconstructive largyngoplasty | Not stated | Treated with ketoconazole | |
| Ma et al. (183) | Not stated | Talaromyces marneffei | M/30 years, Hong Kong | Lung abscess, massive hemoptysis | Stenotrophomonas maltophilia lung abscess, recurrent pneumonia, skin infections | Treated with amphotericin B, died of respiratory failure due to rapid disease progression |
| Lee et al. (85) | Heterozygous p.D374G | T. marneffei | F/12 months, Guangzhou, China | Disseminated T. marneffei infection with pancytopenia and hepatosplenomegaly, positive culture of T. marneffei from bone marrow | Pulmonary aspergillosis, Staphylococcus septicemia, pneumatocele, and pneumothorax | T. marneffei infection treated with itraconazole with good response |
Location of residence and mutation of STAT3 gene are provided wherever information is available.