ABSTRACT
Diagnosis of invasive fungal infection remains challenging. Here we report a case of early diagnosis of invasive aspergillosis in a neutropenic patient affected by acute myeloid leukaemia, achieved through the detection of Aspergillus fumigatus species-specific ribonucleic acid sequences by a sensitive multiplex real-time polymerase chain reaction-based molecular assay. Thanks to the early diagnosis, targeted therapy was promptly established and the severe fungal infection controlled, allowing the patient to subsequently receive allogeneic hematopoietic stem cell transplantation from a haploidentical donor, her only curative option. Also in this instance, targeted secondary antifungal prophylaxis with voriconazole avoided any other fungal infection afterwards. This report suggests how the implementation of molecular assays in combination with routine diagnostic procedures, can improve microbiological diagnosis in sepsis, particularly in case of fungal infection, difficult to detect with standard microbiological culture methods.
ABSTRACT
We report herein the identification of a new HLA-A null allele. This allele, A*0105N, was detected during histocompatibility testing of a cord blood donor and the respective mother. Serologic typing results contrasted those obtained with DNA typing that alone showed the presence of HLA-A*01. ThisA*0105N was due to a nucleotide deletion in exon 4 that altered the reading frame, causing a premature termination.