Table 5.

Endemic mycoses in IL12RB1 deficiency and INFGR1 deficiency.

	Genetic defect	Endemic fungal pathogen	Gender/age, residence	Clinical manifestations	Other infections and comorbidities	Treatment and outcome
IL12RB1 deficiency
Moraes-Vasconcelos et al. (138)	Homozygous p.L77F	Paracoccidioides brasiliensis	M/24 years, Brazil	20 years: fever, hepatosplenomegaly, generalized lymphadenpathy	BCG cervical adenopathy at 7 m, relapse at 2 years 6 years; disseminated non-typhoidal salmonellosis which lasted for 7 years	Treated with trimethoprim-sulfamethoxazole for 5 years with clinical resolution
de Beaucoudrey et al. (137)	Homozygous p.R521X	Histoplasma spp.	F/5 years	Disseminated histoplasmosis	Tuberculosis	Not mentioned
Vinh et al. (139)	Homozygous p.C186Y	Coccidioides spp.	Patient 1: F/22 years, US	Diffuse lymphadenopathy (cervical, supraclavicular, hilar, mediastinal, retroperitoneal)	Non-typhoidal salmonellosis (bacteremia and lymphadenopathy)	Fluconazole for 1.5 years without recurrence
			Patient 2 (brother of Patient 1): M/6 years, Arizona, US	6 years: coccidioidal pneumonia 14 years: right supraclavicular lymphadenopathy and a nasal lesion 16 years: osteomyelitis of the right proximal tibia	Nil	Received fluconazole for 2 years, developed osteomyelitis 2 months after stopping fluconazole, treated with itraconazole with improvement
Hwangpo et al. (140)	IL12-receptor defect (by functional studies)	Histoplasma spp.	M/8 years	Disseminated histoplasmosis with miliary infiltration of the lungs, mediastinal lymphadenopathy, splenomegaly	Not mentioned	Itraconazole
Falcão et al. (141)	Homozygous p.R283X	Histoplasma capsulatum	M/4 years, Brazil	4 years: fever, hepatosplenomegaly, generalized lymphadenopathy, bone marrow involvement 6 years: CNS histoplasmosis complicated by hydrocephalus	Tuberculous adenitis	Antifungal treatment and itraconazole prophylaxis
			Brother of the proband	Disseminated histoplasmosis	Tuberculous adenitis, disseminated salmonellosis	Not mentioned
IFNGR1 defect
Zerbe and Holland (146)	Heterozygous c.818del4	H. capsulatum	M/3 years, Tennessee, US	3 years: fever, pneumonia, hepatosplenomegaly, cervical and paratracheal lymphadenopathy 4.5 years: fever, pneumonia, generalized lymphadenopathy, sinusitis; lymph node biopsy yielded H. capsulaum 4.8 years: right paranasal mass and osteomyelitis of the facial bones requiring debridement	Coexisting MAC infection: 3 years: MAC found in gastric aspirate 7 years: cervical lymphadenopathy and osteomyelitis of rib, biopsy yielded MAC	Repeated courses of intensive antifungal and antimycobacterial therapy, subcutaneous IFN-γ injection led to clearing of all bone lesions. Remained well on prophylactic itraconazole, azithromycin, and IFN-γ
Vinh et al. (147)	Heterozygous c.818del4	Coccidioides spp.	M/11 years, Arizona, US	Lobar pneumonia, mediastinal and hilar lymphadenopathy; later developed osteomyelitis involving the vertebral spine and pelvic bone	Mycobacterium chelonae pulmonary infection at 11 months; M. kansasii abscess involving the cervical spine and retropharyngeal space	Refractory coccidioidomycosis with progressive skeletal lesions despite prolonged use of antifungal therapy (amphotericin B and azoles). Surgical debridement with implantation of amphotericin B-impregnated beads. Adjunctive IFN-γ injection for M. kansasii infection with good response
Lee and Lau (manuscript in preparation)	Homozygous c.182dupT, p.V61fs	Talaromyces marneffei	F/5 months, Chiang Mai, Thailand	Generalized papular skin lesions, hepatosplenomegaly, osteolytic lesions in the skull, fungemia	11 months: fulminant salmonella septicemia	T. marneffei infection resolved with amphotericin B followed by oral itraconazole; died of salmonellosis and massive lower gastrointestinal bleeding

Location of residence is indicated wherever information is available.

IFN, interferon; MAC, Mycobacterium avium complex.