Clinical characteristics and long-term prognosis of talaromycosis in children with novel and reported inborn errors of immunity.
AI interpretation is pending for this paper.
Open original publication →What the AI sees
Not AI summarized yet.
Research significance
Pending deeper interpretation.
Source abstract
IMPORTANCE: Little is known about the long-term prognosis of patients with talaromycosis and inborn errors of immunity (IEI). OBJECTIVE: We aimed to evaluate the clinical characteristics and long-term outcomes of talaromycosis in children with IEI on a 13-year cohort study. MAIN OUTCOMES AND MEASURES: An observational study was conducted on pediatric patients with talaromycosis at tertiary hospitals in southern China during 2012 to 2024. Data on demographic information, clinical features, immunological characteristics, genetic tests, antifungal treatment, and long-term prognosis were collected for analysis. RESULTS: Among the 329 patients with talaromycosis without HIV, children accounted for 7%. 100% children with talaromycosis were diagnosed as IEI, and a total of 18 children were finally enrolled. All children were identified with IEI, including five novel genetic defects (IL7R, LYST, PLCG2, DOCK8, and KRAS deficiency) and five reported genetic defects (STAT1-GOF, IL2RG, CD40L, STAT3-LOF, CARD9 deficiency). Most children exhibited decreased lymphocytes, NK cells, and immunoglobulin levels. Half of children had been suffered from severe complications, such as sepsis or septic shock, thus had to received advanced life support in ICU. The median antifungal treatment duration was 16 months (IQR: 0.8-72.5 months). Amphotericin B and voriconazole are commonly used for induction therapy. Voriconazole and itraconazole are commonly used for maintenance therapy. Within 2 weeks of induction antifungal treatment, 3 patients died, and another 3 patients died within 24 weeks. At the end of observation, despite one child died of leukemia and one lost to follow-up, 4 achieved long-term relapse-free survival without antifungal treatment, and 6 were stable with maintenance antifungal therapy (One survived for more than 20 years, the longest recorded survival now). Most children benefited from immune boosting therapy, including 2 received HSCT intervention. CONCLUSIONS AND RELEVANCE: Talaromycosis serves as an early warning indicator for IEI in HIV-uninfected children. Treatment and long-time management remain a challenge. Besides, long lasting anti-fungal and immune boosting therapy may be necessary, while HSCT intervention could provide potential benefits.