Table 6.

Endemic mycoses in AD signal transducer and activator of transcription 1 defect.

	Genetic defect	Endemic fungal pathogen	Gender/age, residence	Clinical manifestations	Other infections and comorbidities	Treatment and outcome
Sampaio et al. (161)	Heterozygous p.E353K	Coccidioides spp.	Patient 1: F/17 years, AZ, USA	Coccidioidal pneumonia, mediastinal lymphadenopathy, and sternocleidomastoid abscess; progressive disease with osteomyelitis of the vertebral spine and lesions in the skin, liver, and spleen at 20 years	Extensive persistent tinea capitis and kerion caused by T. tonsurans	Progressive disease despite prolonged antifungal therapy including amphotericin B, azoles and caspofungin. Developed spinal cord compression at 20 years due to intramedullary lesion
	Heterozygous p.A267V	Coccidioides immitis	Patient 2: F/9 years, AZ, USA	Coccidioidal pneumonia and intrathoracic lymphadenopathy, osteomyelitis of the vertebral spine; progressive disease with CNS involvement, lymphadenopathy, retinal mass, and multifocal osteomyelitis	Nil	Progressive disease despite prolonged antifungal therapy including amphotericin B, azoles, and caspofungin, suboptimal response to adjunctive IFN-γ therapy. Died of overwhelming coccidioidomycosis at 17 years
	Heterozygous p.T385M	Histoplasma capsulatum	Patient 3: M/21 years	Disseminated histoplasmosis at 12 years	CMC, M. fortuitum cervical lymphadenopathy, recurrent pneumonia and herpes zoster, bronchiecatasis Recurrent fractures, progressive bilateral upper limb muscle atrophy	Histoplasmosis treated with itraconazole with good response
	Heterozygous p.R274G	H. capsulatum	Patient 4: M/31 years	17 years: disseminated histoplasmosis presenting with fever, weight loss, lymphadenopathy with liver, and bone marrow involvement 30 years: CNS histoplasmosis	CMC, warts, recurrent Salmonella septicemia Type 1 DM at 24 years 31 years: PML caused by JC virus	Histoplasmosis treated with amphotericin B for 6 months followed by fluconazole with multiple relapses that responded to intensified treatment
	Heterozygous p.F172L	H. capsulatum	Patient 5: F/25 years	7 years: disseminated histoplasmosis presenting with fever, hepatosplenomegaly, lymphadenopathy, and dyspnea; recurrence at 8 years	CMC Subclinical hypothyroidism at 14 years, ovarian failure at 24 years	Histoplasmosis treated with itraconazole with good response
Lee et al. (162)	Heterozygous p.A267V	Talaromyces marneffei	Patient 1: M/14 years, Hong Kong	Disseminated T. marneffei infection at 15 years with generalized lymphadenopathy, positive culture of T. marneffei from lymph node biopsy	CMC	Amphotericin B, itraconazole prophylaxis
	Heterozygous p.L358F	T. marneffei	Patient 2: F/8 years, Hong Kong	Cavitating pneumonia with cystic cavities; mediastinal and hilar lymphadenopathy, positive culture of T. marneffei from BAL CMC	Recurrent sinopulmonary infections Influenza A (H1N1)	Liposomal amphotericin, itraconazole prophylaxis
	Heterozygous p.T288I	T. marneffei	Patient 3: F/16 years, Hong Kong	Cervical lymphadenopathy, positive culture of T. marneffei and M. tuberculosis from lymph node biopsy; concomitant axillary, mesenteric, and retroperitoneal lymphadenopathy	CMC Recurrent sinopulmonary infections and herpes zoster EBV-associated HLH Disseminated aspergillosis	T. marneffei infection responded well to itraconazole Disseminated aspergillosis and EBV-associated HLH at 16 years, died of massive gastrointestinal hemorrhage
Lee and Lau, unpublished	Heterozygous p.M390I	T. marneffei	M/40 years, Hong Kong	10 years: cervical lymphadenopathy complicated by ulcerations; perforation of the hard palate, mediastinal lymphadenopathy causing SVC obstruction and sternal erosion, tissue culture yielded T. marneffei 17 years: osteomyelitis of the thumb, forearm, and tibia	CMC	Relapsing and remitting disease course on prolonged treatment of amphotericin B and fluconazole till 20 years; infection cleared with residual scarring of the skin and dilated veins on the chest

Location of residence is indicated wherever information is available.

BAL, bronchoalveolar lavage; CMC, chronic mucocutaneous candidiasis; CNS, central nervous system; DM, diabetes mellitus; EBV, Epstein–Barr virus; IFN, interferon; PML, progressive multifocal leukoencephalopathy; SVC, superior vena cava.