Table 2.
Clinical characteristics of T. marneffei infection in 6 patients with IEI.
| P1 | P2 | P3 | P4 | P5 | P6 | |
|---|---|---|---|---|---|---|
| Gender | F | M | M | F | M | M |
| Province of residence | Hunan | Guangdong | Zhejiang | Jiangxi | Jiangxi | Guangdong |
| Age at diagnosis of IEI (m) | 35m | 5m | 6m | 12m | 31m | 7m |
| Age at T.marneffei infection (m) | 36m | 5m | 29m | 11m | 29m | 25m |
| Method of T. marneffei detection | mNGS of peripheral blood and lymph node biopsy tissue; blood culture; histopathology of lymph node | mNGS of peripheral blood | mNGS of BALF | mNGS and culture of BALF | mNGS of peripheral blood; histopathology of abdominal lymph nodes; blood culture | mNGS of peripheral blood and BALF |
| Infected site of T.marneffei | Blood, lymph node | Blood | Pulmonary | Pulmonary | Blood, lymph nodes, liver, spleen, pancreas | Blood, pulmonary |
| Clinical presentations | ||||||
| Fever | + | - | - | + | + | + |
| Weight loss | + | - | - | - | NA | + |
| Anemia | + | - | + | + | + | + |
| Hepatomegaly | - | - | + | - | Multiple lesions of the liver | - |
| Splenomegaly | + | - | + | - | Multiple lesions of the spleen | Multiple lesions of the spleen |
| Lymphadenopathy | + | - | + | - | + | + |
| Bone destruction | - | - | + | - | - | - |
| Serous effusion | - | - | Pleural effusion | - | Pleural, peritoneal and pericardial effusion | - |
| Respiratory symptoms | Cough | - | - | Cough, shortness of breath, laryngeal stridor | Dysponea | _ |
| Gastrointestinal symptoms | - | - | - | - | Recurrent nausea, diarrhea, vomiting, bloating | Diarrhea |
| Genetic tests | IL12RB1: c.875-885 deletion (paternal); exon 14-16 deletion (maternal) | IL12RB1: c.632G>C, p.R211P, hom | IFNGR1: c.655G>A, p.G219R, hom | STAT3: c.1394C>T, p.S465F, het | STAT1: c.821G>A, p.R274Q, het | CD40LG fragment deletion, hemi |
| Anti-antifungal Treatment | Itraconazole for 3 month, amphotericin B liposome for 2 weeks, then long-term itraconazole | Itraconazole for 6 months | Itraconazole for 9 months | Amphotericin B for 20 days, then long-term voriconazole | Intravenous voriconazole for 25 days, oral voriconazole for 7 months, then Itraconazole for 22 months | Itraconazole for 2 months |
| The last follow-up | Alive, 40m | Alive, 21m | Alive, 51m | Alive, 23m; HSCT at 18m | Alive, 68m | HSCT at 27m, died of sepsis at 29m |
m, month; M, male; F, female; IEI, inborn error of immunity; BALF, bronchoalveolar lavage fluid; NA, Not Available; HSCT, hematopoietic stem cell transplantation.