Hepatic Candida albicans Infection in a Child With CARD9 Deficiency: A Case Report and Literature Review

Microbial infections caused by fungi, bacteria, viruses, and parasites significantly contribute to global mortality and healthcare costs, particularly in immunocompromised hosts. Candida albicans , a commonly encountered fungal pathogen, is responsible for a broad spectrum of conditions, ranging from superficial mucosal infections to life-threatening systemic disease. Caspase recruitment domain–containing protein 9 (CARD9) deficiency, an autosomal recessive inborn error of immunity, is associated with severe and recurrent fungal infections. We present the case of an 11-year-old boy with hepatic candidiasis caused by a homozygous frameshift loss-of-function variant in CARD9 (c.820dup, p.Asp274GlyfsTer61). The diagnosis was confirmed through an integrated diagnostic approach combining histopathology, fungal culture, next-generation sequencing of liver tissue, and whole-exome sequencing. The patient showed a poor response to initial azole therapy but improved significantly after switching to caspofungin, with adjunctive granulocyte colony-stimulating factor therapy. A revised literature review of published pediatric or pediatric-onset cases showed that central nervous system and pulmonary involvement predominated, whereas hepatic disease remained exceptionally rare. This case expands the recognized deep-organ spectrum of CARD9 deficiency and highlights the importance of considering inborn errors of immunity in children with unexplained or refractory deep-seated fungal infections.