Hematopoietic Stem Cell Transplantation in CARD9 Deficiency: Knight in Shining Armor?

Excerpt

In this Issue of the Journal of Clinical Immunology, Queiroz-Telles et al. report the first successful use of hematopoietic stem cell transplantation (HSCT) in two unrelated patients with autosomal recessive Caspase Recruitment Domain 9 (CARD9) deficiency suffering from recurrent and ongoing invasive dermatophytosis [1]. Autosomal recessive (CARD9) deficiency (OMIM 212050) has recently been extensively reviewed in this journal [2]. In brief, the condition underlies life-threatening invasive infections by ascomycete fungi typically including invasive and superficial dermatophytosis, invasive phaeohyphomycosis, but also invasive Candida (especially central nervous system infection), and extrapulmonary aspergillosis, in otherwise healthy individuals. Since the first description in 2009, 58 patients from 39 kindreds have been reported with homozygous (n = 49; 31 kindreds) or compound heterozygous (n = 9; 8 kindreds) CARD9 mutations. The clinical penetrance of fungal disease is complete in all patients described until now, albeit only at age 52 years. …