摘要
We describe the case of a 2-year-old boy with disseminated infection by a rapidly growing,poorly pathogenic mycobacterial species that belonged to the Mycobacterium fortuitum-Mycobacterium peregrinum complex. He had a severe course characterized by a poor response to treatment and recurrent lymph node abscess formation. Sequencing of the interferon-γreceptor 1 gene (IFNγR1) revealed that he was homozygous for a novel null mutation,453delT. Patients presenting with disseminated infections by rapidly growing environmental mycobacteria must be investigated for complete IFNγR1 deficiency. The spectrum of IFNγR1 genotypes associated with this immunological disorder is expanding.
We describe the case of a 2-year-old boy with disseminated infection by a rapidly growing,poorly pathogenic mycobacterial species that belonged to the Mycobacterium fortuitum-Mycobacterium peregrinum complex. He had a severe course characterized by a poor response to treatment and recurrent lymph node abscess formation. Sequencing of the interferon-γreceptor 1 gene (IFNγR1) revealed that he was homozygous for a novel null mutation,453delT. Patients presenting with disseminated infections by rapidly growing environmental mycobacteria must be investigated for complete IFNγR1 deficiency. The spectrum of IFNγR1 genotypes associated with this immunological disorder is expanding.
